Zespół hipoplastycznego lewego serca
Diagnostyka i diagnoza

Zespół hipoplastycznego lewego serca (HLHS) to ciężka wrodzona wada serca charakteryzująca się niedorozwojem lewej komory, zastawki mitralnej, aortalnej oraz aorty wstępującej, co prowadzi do zaburzeń przepływu krwi i bez leczenia skutkuje śmiercią. Diagnostyka prenatalna, głównie za pomocą echokardiografii płodowej wykonywanej między 18 a 22 tygodniem ciąży, pozwala na wczesne wykrycie cech HLHS, takich jak hipoplazja lewej komory, zastawki i aorty, oraz ocenia stopień zaawansowania wady przy pomocy wartości Z-score, w tym stosunku RV/LV ≥1,28 jako predyktora rozwoju jednokomorowego serca. Po urodzeniu rozpoznanie opiera się na badaniu fizykalnym, pulsoksymetrii, echokardiografii, EKG i zdjęciu rentgenowskim klatki piersiowej, a w wybranych przypadkach na cewnikowaniu serca, rezonansie magnetycznym lub tomografii komputerowej. Badania genetyczne, takie jak analiza wolnego płodowego DNA, amniocenteza oraz kariotyp i mikroarray, są istotne dla identyfikacji powiązanych zespołów genetycznych (np. Turner, DiGeorge, Down), które wpływają na rokowanie i przebieg leczenia.

Diagnostyka zespołu hipoplastycznego lewego serca

Zespół hipoplastycznego lewego serca (HLHS) jest rzadką, ale poważną wrodzoną wadą serca charakteryzującą się niedorozwojem struktur lewej strony serca, w tym lewej komory, zastawki aortalnej, zastawki mitralnej i aorty wstępującej. Wada ta uniemożliwia prawidłowy przepływ krwi przez serce, co bez leczenia prowadzi do śmierci.12 Diagnostyka tej wady jest kluczowa, zarówno w okresie prenatalnym, jak i po urodzeniu dziecka, ponieważ wczesne rozpoznanie umożliwia zaplanowanie opieki okołoporodowej i neonatologicznej.3

Diagnostyka prenatalna

Obecnie większość przypadków HLHS jest diagnozowana jeszcze przed urodzeniem dziecka, co znacząco poprawiło rokowania i umożliwiło lepsze planowanie opieki poporodowej.45 Diagnostyka prenatalna odbywa się głównie za pomocą następujących metod:

  • Rutynowe badanie ultrasonograficzne w ciąży – zazwyczaj wykonywane w drugim trymestrze (między 18 a 22 tygodniem ciąży), może ujawnić nieprawidłowości w budowie serca płodu, które mogą sugerować HLHS67
  • Prenatalna echokardiografia (echokardiografia płodowa) – jest złotym standardem w diagnostyce HLHS, umożliwiającym szczegółową ocenę anatomii i funkcji serca płodu89

W obrazie echokardiograficznym HLHS typowo obserwuje się:1011

  • Dysproporcję między komorami serca z hipoplastyczną lewą komorą
  • Małą, pogrubiałą i hiperechogeniczną lewą komorę o słabej kurczliwości
  • Niedorozwój drogi wypływu z lewej komory
  • Hipoplazję lub atrezję zastawki mitralnej i/lub aortalnej
  • Hipoplazję aorty wstępującej i łuku aorty

W diagnostyce prenatalnej istotne są również tzw. wartości Z-score, które pomagają w ocenie nasilenia wady i umożliwiają monitorowanie jej w trakcie ciąży. Szczególnie ważny jest stosunek długości prawej komory do lewej komory (RV/LV), gdzie wartość ≥1,28 jest najsilniejszym predyktorem rozwoju jednokomorowego serca.1213

Diagnostyka poporodowa

Jeżeli zespół hipoplastycznego lewego serca nie zostanie zdiagnozowany prenatalnie, często objawia się klinicznie w ciągu pierwszych dni życia, zwłaszcza gdy przewód tętniczy zaczyna się zamykać, prowadząc do objawów niewydolności serca i niskiego rzutu systemowego.1415

Diagnostyka poporodowa obejmuje:1617

  • Badanie fizykalne – lekarz może wykryć szmer serca spowodowany turbulentnym przepływem krwi oraz inne objawy, takie jak sinica, słabe tętno obwodowe czy objawy niewydolności serca1819
  • Pulsoksymetria – nieinwazyjna metoda monitorowania poziomu tlenu we krwi, która może wskazywać na nieprawidłowości2021
  • Echokardiografia – główne narzędzie diagnostyczne umożliwiające szczegółową ocenę anatomii i funkcji serca; pozwala na potwierdzenie diagnozy HLHS i ocenę nasilenia wady2223
  • Elektrokardiogram (EKG) – wykazuje przerost prawej komory i zmniejszoną aktywność elektryczną lewej komory2425
  • Zdjęcie rentgenowskie klatki piersiowej – może wykazać powiększone serce (kardiomegalię) i zastój żylny w płucach2627

W bardziej złożonych przypadkach lub do dalszej oceny anatomii i funkcji serca mogą być stosowane dodatkowe metody diagnostyczne:2829

Testy genetyczne w diagnostyce HLHS

Badania genetyczne odgrywają istotną rolę w diagnostyce HLHS, ponieważ wada ta może być związana z różnymi zaburzeniami chromosomalnymi. Testy genetyczne mogą obejmować:3536

  • Badanie wolnego płodowego DNA (cell-free fetal DNA testing) – analiza próbki krwi w celu poszukiwania kopii DNA płodu, mogących wskazywać na problemy genetyczne37
  • Amniocenteza – pobranie i badanie niewielkiej próbki płynu owodniowego otaczającego płód w macicy, zazwyczaj wykonywane między 14 a 20 tygodniem ciąży38
  • Kariotyp lub mikroarray – badanie krwi dziecka w celu wykrycia problemów z DNA, może być wykonane jako podstawowe badanie chromosomów (kariotyp) lub bardziej szczegółowa analiza wszystkich genów (mikroarray)39

Testy genetyczne są szczególnie ważne, aby zidentyfikować powiązane zaburzenia chromosomalne, takie jak zespół Turnera, zespół DiGeorge’a czy zespół Downa, ponieważ noworodki z tymi zespołami mają wyższą zachorowalność i śmiertelność oraz dłuższy czas pobytu w szpitalu po operacji.4041

Znaczenie wczesnej diagnostyki HLHS

Wczesna diagnostyka zespołu hipoplastycznego lewego serca ma kluczowe znaczenie z kilku powodów:4243

  • Umożliwia zaplanowanie porodu w specjalistycznym ośrodku z oddziałem kardiochirurgii dziecięcej44
  • Pozwala na natychmiastowe rozpoczęcie leczenia farmakologicznego po urodzeniu (podanie prostaglandyny E1), aby utrzymać drożność przewodu tętniczego4546
  • Umożliwia zaplanowanie pierwszego etapu leczenia chirurgicznego, które zwykle musi być przeprowadzone w pierwszym tygodniu życia47
  • Daje rodzicom czas na przygotowanie się do urodzenia dziecka z poważną wadą serca i zrozumienie dostępnych opcji leczenia48
  • Wiąże się z niższą śmiertelnością, krótszym czasem hospitalizacji i mniejszym ryzykiem uszkodzenia mózgu po urodzeniu49

Wielodyscyplinarne podejście w diagnostyce HLHS

Diagnostyka i leczenie zespołu hipoplastycznego lewego serca wymaga współpracy wielodyscyplinarnego zespołu specjalistów, w tym:5051

  • Ginekologów-położników
  • Neonatologów
  • Kardiologów dziecięcych
  • Kardiochirurgów
  • Genetyków klinicznych
  • Specjalistów medycyny płodowej
  • Pediatrów

Współpraca tych specjalistów pozwala na zapewnienie kompleksowej i skoordynowanej opieki nad dzieckiem z HLHS od momentu diagnozy, przez poród, aż po dalsze leczenie.5253

Postępy w diagnostyce zespołu hipoplastycznego lewego serca

W ostatnich latach nastąpił znaczny postęp w diagnostyce HLHS, szczególnie w zakresie diagnostyki prenatalnej. Poprawa rozdzielczości aparatów ultrasonograficznych oraz zwiększenie świadomości i częstości wykonywania badań w drugim trymestrze ciąży przyczyniły się do lepszego zrozumienia spektrum tej wady i rozszerzenia wiedzy na jej temat.54

Nowoczesne techniki obrazowania, takie jak zaawansowana echokardiografia płodowa, rezonans magnetyczny płodu i tomografia komputerowa, umożliwiają coraz dokładniejszą ocenę anatomii i funkcji serca płodu, co pozwala na lepsze planowanie leczenia poporodowego.55

Postępy w dziedzinie testów genetycznych również przyczyniły się do lepszego zrozumienia genetycznego podłoża HLHS, co może mieć wpływ na przyszłe strategie leczenia i profilaktyki.5657

Wyzwania w diagnostyce HLHS

Mimo postępów w diagnostyce, zespół hipoplastycznego lewego serca wciąż stanowi wyzwanie diagnostyczne. Niektóre z głównych trudności to:5859

  • Trudność w ocenie lewej komory u płodu, zwłaszcza w łagodniejszych przypadkach HLHS
  • Zmiany w anatomii serca mogą nie być w pełni widoczne aż do późniejszego okresu ciąży
  • Łagodniejsze formy HLHS mogą być trudniejsze do zdiagnozowania prenatalnie
  • Niektóre przypadki mogą zostać przeoczone podczas rutynowych badań ultrasonograficznych
  • Po urodzeniu, objawy mogą nie być widoczne do momentu, gdy przewód tętniczy zacznie się zamykać, co może nastąpić po wypisie ze szpitala

Dlatego ważne jest, aby lekarze byli świadomi tych wyzwań i stosowali odpowiednie protokoły diagnostyczne, które mogą pomóc w wykrywaniu nawet subtelnych przypadków HLHS.6061

Różnicowanie diagnostyczne

Zespół hipoplastycznego lewego serca należy różnicować z innymi lewostonnymi wadami serca, które mogą dawać podobny obraz kliniczny, zwłaszcza w sytuacji, gdy krążenie systemowe jest zależne od drożności przewodu tętniczego. Do tych wad należą:6263

Dokładna diagnostyka różnicowa jest kluczowa dla określenia optymalnej strategii leczenia.64

Współczesne standardy diagnostyczne

Współczesne standardy diagnostyczne w zespole hipoplastycznego lewego serca opierają się na wielokierunkowym podejściu, łączącym badania obrazowe, kliniczne i genetyczne. Echokardiografia pozostaje złotym standardem diagnostycznym, zarówno w okresie prenatalnym, jak i po urodzeniu.6566

Dla lewstronnych wad układu krążenia, w tym HLHS, coraz powszechniejsze staje się wprowadzanie strategii badań przesiewowych w kierunku wrodzonych wad serca, takich jak rutynowe badania ultrasonograficzne w ciąży oraz badania przesiewowe noworodków za pomocą pulsoksymetrii.67

Wczesna i dokładna diagnostyka HLHS jest kluczowa dla poprawy wyników leczenia tej złożonej wady serca. Dzięki postępom w technikach obrazowania i badaniach genetycznych, coraz więcej przypadków jest rozpoznawanych prenatalnie, co umożliwia lepsze planowanie opieki poporodowej i poprawia rokowanie.6869

Multidyscyplinarne podejście do diagnostyki i leczenia HLHS, obejmujące współpracę specjalistów z różnych dziedzin, jest niezbędne dla zapewnienia optymalnej opieki nad dzieckiem z tą złożoną wadą serca.70

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  1. 12.04.2026
  2. www.leksykon.com.pl

Materiały źródłowe

  • #1 Hypoplastic Left Heart Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK554576/
    Hypoplastic left heart syndrome (HLHS) is a rare but severe congenital heart defect characterized by underdevelopment of left-sided heart structures, including the left ventricle, aortic valve, mitral valve, and ascending aorta. […] Diagnosis often occurs prenatally through fetal echocardiography, with postnatal clinical findings including cyanosis, weak pulses, and signs of low cardiac output as the ductus closes. […] HLHS is often diagnosed prenatally through routine fetal ultrasonography, with advances in imaging techniques enabling earlier and more accurate detection. Early diagnosis has improved perinatal management and outcomes. […] Echocardiography is the gold standard for diagnosing HLHS, and it can detect the condition prenatally or after birth. Prenatal echocardiography may reveal progressive LV hypoplasia and hypoplasia of the aortic arch, though these changes might not be fully apparent until later in gestation. […] Genetic testing is essential to identify associated chromosomal abnormalities, such as Turner syndrome, DiGeorge syndrome, or Down syndrome, as these neonates have higher morbidity and mortality rates as well as experience longer hospital stays after surgery.
  • #2 Hypoplastic Left Heart Syndrome (HLHS) | Children’s Hospital of Philadelphia
    https://www.chop.edu/conditions-diseases/hypoplastic-left-heart-syndrome-hlhs
    Hypoplastic left heart syndrome (HLHS) is a severe congenital heart defect in which the left side of the heart is underdeveloped. […] Often, hypoplastic left heart syndrome is diagnosed before birth, with fetal echocardiogram (ultrasound). […] Sometimes HLHS is diagnosed hours or days after birth and the baby will need immediate therapy. Diagnosis of HLHS may require some or all these tests: Echocardiogram (also called „echo” or ultrasound): sound waves create an image of the heart, Electrocardiogram (ECG): a record of the electrical activity of the heart, Chest x-ray, Pulse oximetry: a noninvasive way to monitor the oxygen content of the blood, Cardiac catheterization: a thin tube is inserted into the heart through a vein and/or artery in the leg which makes measurements throughout the heart, Cardiac MRI: a three-dimensional image shows the heart’s structures in detail.
  • #3 Advancements in prenatal diagnosis and management of hypoplastic left heart syndrome: A multidisciplinary approach and future directions
    https://www.wjgnet.com/1949-8462/full/v17/i3/103668.htm
    Prenatal diagnosis empowers parents to make informed decisions about their child’s treatment, ranging from surgical interventions to supportive care. […] A multidisciplinary approach to prenatal care, involving obstetricians, neonatologists, pediatric cardiologists, and cardiac surgeons, is essential for delivering comprehensive and coordinated care. […] Prenatal counseling and education are pivotal in helping parents understand the complexity of the condition, the available management options, and the potential long-term effects of treatment. […] Although advances in surgical techniques and staged palliation have improved survival rates, challenges remain, including hemodynamic issues, neurological complications, and the need for lifelong immunosuppression in transplant cases. […] Future directions in fetal cardiology include continued research into the genetic basis of HLHS, exploration of stem cell therapies, and bioengineering solutions, and expanding the availability of heart transplantation.
  • #4 Hypoplastic Left Heart Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK554576/
    Hypoplastic left heart syndrome (HLHS) is a rare but severe congenital heart defect characterized by underdevelopment of left-sided heart structures, including the left ventricle, aortic valve, mitral valve, and ascending aorta. […] Diagnosis often occurs prenatally through fetal echocardiography, with postnatal clinical findings including cyanosis, weak pulses, and signs of low cardiac output as the ductus closes. […] HLHS is often diagnosed prenatally through routine fetal ultrasonography, with advances in imaging techniques enabling earlier and more accurate detection. Early diagnosis has improved perinatal management and outcomes. […] Echocardiography is the gold standard for diagnosing HLHS, and it can detect the condition prenatally or after birth. Prenatal echocardiography may reveal progressive LV hypoplasia and hypoplasia of the aortic arch, though these changes might not be fully apparent until later in gestation. […] Genetic testing is essential to identify associated chromosomal abnormalities, such as Turner syndrome, DiGeorge syndrome, or Down syndrome, as these neonates have higher morbidity and mortality rates as well as experience longer hospital stays after surgery.
  • #5 Hypoplastic left heart syndrome – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/hypoplastic-left-heart-syndrome/diagnosis-treatment/drc-20350605
    To diagnose hypoplastic left heart syndrome (HLHS), a healthcare professional examines the baby and listens to the baby’s heart. The healthcare professional may hear a sound called a heart murmur. Rushing blood flow causes this sound. […] Tests used to find hypoplastic left heart syndrome (HLHS) in the baby before or after birth may include: […] A routine ultrasound exam during the second trimester of pregnancy usually can tell if the baby has HLHS. […] This test uses sound waves to make pictures of the heart. It shows how blood flows through the heart. It can be used after a baby is born to diagnose hypoplastic left heart syndrome. If a baby has HLHS, the test might find that the lower left heart chamber and heart valves are small. The body’s main artery, called the aorta, also may be small.
  • #6 Hypoplastic Left Heart Syndrome (HLHS): Causes, Symptoms & Treatment
    https://my.clevelandclinic.org/health/diseases/12214-hypoplastic-left-heart-syndrome-hlhs
    Hypoplastic left heart syndrome (HLHS) is a heart condition that develops before birth (congenital). The left side of a baby’s heart doesn’t form right. This keeps blood from flowing through their heart in a normal way. […] A healthcare provider can make a hypoplastic left heart syndrome diagnosis with information from harmless imaging. […] During pregnancy, healthcare providers use painless and non-invasive imaging methods such as prenatal ultrasound and fetal echocardiogram to evaluate your baby’s heart before birth. […] After your baby is born, healthcare providers diagnose the condition by observing symptoms and examining test results. They may hear a heart murmur while using a stethoscope to listen to your baby’s heart. This means blood isn’t flowing the way it should. […] Tests for a hypoplastic left heart syndrome diagnosis may include chest X-ray, echocardiogram, electrocardiogram (EKG), and pulse oximetry screening.
  • #7 Hypoplastic left heart syndrome – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/hypoplastic-left-heart-syndrome/diagnosis-treatment/drc-20350605
    To diagnose hypoplastic left heart syndrome (HLHS), a healthcare professional examines the baby and listens to the baby’s heart. The healthcare professional may hear a sound called a heart murmur. Rushing blood flow causes this sound. […] Tests used to find hypoplastic left heart syndrome (HLHS) in the baby before or after birth may include: […] A routine ultrasound exam during the second trimester of pregnancy usually can tell if the baby has HLHS. […] This test uses sound waves to make pictures of the heart. It shows how blood flows through the heart. It can be used after a baby is born to diagnose hypoplastic left heart syndrome. If a baby has HLHS, the test might find that the lower left heart chamber and heart valves are small. The body’s main artery, called the aorta, also may be small.
  • #8 Hypoplastic Left Heart Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK554576/
    Hypoplastic left heart syndrome (HLHS) is a rare but severe congenital heart defect characterized by underdevelopment of left-sided heart structures, including the left ventricle, aortic valve, mitral valve, and ascending aorta. […] Diagnosis often occurs prenatally through fetal echocardiography, with postnatal clinical findings including cyanosis, weak pulses, and signs of low cardiac output as the ductus closes. […] HLHS is often diagnosed prenatally through routine fetal ultrasonography, with advances in imaging techniques enabling earlier and more accurate detection. Early diagnosis has improved perinatal management and outcomes. […] Echocardiography is the gold standard for diagnosing HLHS, and it can detect the condition prenatally or after birth. Prenatal echocardiography may reveal progressive LV hypoplasia and hypoplasia of the aortic arch, though these changes might not be fully apparent until later in gestation. […] Genetic testing is essential to identify associated chromosomal abnormalities, such as Turner syndrome, DiGeorge syndrome, or Down syndrome, as these neonates have higher morbidity and mortality rates as well as experience longer hospital stays after surgery.
  • #9 SciELO Brazil – Prenatal diagnosis of hypoplastic left heart syndrome: current knowledge Prenatal diagnosis of hypoplastic left heart syndrome: current knowledge
    https://www.scielo.br/j/rb/a/5pTnh69XLQBGCzPs4PMcJkM/
    Hypoplastic left heart syndrome (HLHS) is characterized by underdevelopment of the left-sided heart structures. The prenatal diagnosis of this congenital heart disease is crucial because a newborn with undiagnosed HLHS often presents with clinical signs of low cardiac output once the ductus arteriosus begins to close. […] Severe forms of HLHS are characterized by a markedly abnormal four-chamber view of the fetal heart (small left atrium, hypoplastic left ventricle, or abnormal mitral valve). The left ventricular outflow tract view allows the degree of hypoplasia in the tract to be evaluated and the diameter of the ascending aorta to be measured. […] The Z-scores are intended to aid in the diagnosis and follow-up of HLHS. In mild forms of HLHS, a right ventricle/left ventricle length ratio 1.28 was the strongest predictor of a univentricular outcome.
  • #10
    https://pmc.ncbi.nlm.nih.gov/articles/PMC10775813/
    Prenatal diagnosis of HLHS is critical because a neonate with undiagnosed HLHS often presents with clinical signs of low cardiac output as the ductus arteriosus begins to close, with compromised systemic perfusion. […] Therefore, in this study, we review the ultrasound features relevant to the prenatal diagnosis of HLHS. […] The ventricular chamber discrepancy due to the hypoplastic LV is the clue to suspect HLHS in the four-chamber view of the fetal heart. […] The view of the left ventricular outflow tract (LVOT) can confirm the diagnosis of HLHS by providing an evaluation of the degree of LVOT hypoplasia, making it possible to measure the ascending aorta, aortic isthmus, and descending aorta in millimeters and express them as Z-scores. […] The Z-scores are intended to aid in the diagnosis and follow-up of HLHS. In mild forms of HLHS, a RV/LV length ratio 1.28 appears to be the strongest variable for identifying a univentricular outcome.
  • #11
    https://journals.lww.com/ijab/fulltext/2017/07030/prenatal_sonographic_diagnosis_of_hypoplastic_left.18.aspx
    HLHS can be detected on prenatal sonography between 18 and 22 weeks of gestation with a 4-chamber view of the fetal heart. […] Prenatal sonological diagnosis has been shown to improve outcome when compared with neonates not diagnosed before birth. […] The most important sonographic findings include the following: a small, thick-walled and hyperechoic left ventricle, with weak contractility. […] Prenatal diagnosis is important for pregnancy counseling and for planning the delivery, due to the severity of this condition and the specialized surgical treatment that is required. […] HLHS which is a complex combination of cardiac malformations can be detected with prenatal evaluation with ultrasound providing an option of pregnancy termination to the parents, or intrauterine interventions may be performed if the parents wish to continue the pregnancy.
  • #12
    https://pmc.ncbi.nlm.nih.gov/articles/PMC10775813/
    Prenatal diagnosis of HLHS is critical because a neonate with undiagnosed HLHS often presents with clinical signs of low cardiac output as the ductus arteriosus begins to close, with compromised systemic perfusion. […] Therefore, in this study, we review the ultrasound features relevant to the prenatal diagnosis of HLHS. […] The ventricular chamber discrepancy due to the hypoplastic LV is the clue to suspect HLHS in the four-chamber view of the fetal heart. […] The view of the left ventricular outflow tract (LVOT) can confirm the diagnosis of HLHS by providing an evaluation of the degree of LVOT hypoplasia, making it possible to measure the ascending aorta, aortic isthmus, and descending aorta in millimeters and express them as Z-scores. […] The Z-scores are intended to aid in the diagnosis and follow-up of HLHS. In mild forms of HLHS, a RV/LV length ratio 1.28 appears to be the strongest variable for identifying a univentricular outcome.
  • #13 SciELO Brazil – Prenatal diagnosis of hypoplastic left heart syndrome: current knowledge Prenatal diagnosis of hypoplastic left heart syndrome: current knowledge
    https://www.scielo.br/j/rb/a/5pTnh69XLQBGCzPs4PMcJkM/
    Prenatal diagnosis of HLHS is critical because a neonate with undiagnosed HLHS often presents with clinical signs of low cardiac output as the ductus arteriosus begins to close, with compromised systemic perfusion. […] Therefore, in this study, we review the ultrasound features relevant to the prenatal diagnosis of HLHS. […] The ventricular chamber discrepancy due to the hypoplastic LV is the clue to suspect HLHS in the four-chamber view of the fetal heart. […] The view of the left ventricular outflow tract (LVOT) can confirm the diagnosis of HLHS by providing an evaluation of the degree of LVOT hypoplasia, making it possible to measure the ascending aorta, aortic isthmus, and descending aorta in millimeters and express them as Z-scores. […] The Z-scores are intended to aid in the diagnosis and follow-up of HLHS. In mild forms of HLHS, a RV/LV length ratio 1.28 appears to be the strongest variable for identifying a univentricular outcome.
  • #14 Hypoplastic Left Heart Syndrome Diagnosis & Treatment | Mount Sinai – New York
    https://www.mountsinai.org/locations/childrens-heart/conditions/hlhs
    If your baby has hypoplastic left heart syndrome (HLHS), you can find comfort in knowing that specialists at Mount Sinai Kravis Children’s Heart Center are here to help. We have advanced diagnostics and surgical expertise along with interstage monitoring to treat and manage your child with HLHS. […] Our doctors can diagnose hypoplastic left heart syndrome during pregnancy. This usually happens at the time of a regular prenatal ultrasound, when your obstetrician may notice a possible abnormality of your unborn baby’s heart. You then will need to see a specialist for a more detailed diagnosis. […] If HLHS is not diagnosed before your baby is born, it may be suspected based on low-oxygen levels during a congenital heart defect screening, or if your baby develops any HLHS symptoms. An accurate diagnosis can be made with an echocardiogram.
  • #15
    https://pmc.ncbi.nlm.nih.gov/articles/PMC10775813/
    Prenatal diagnosis of HLHS is critical because a neonate with undiagnosed HLHS often presents with clinical signs of low cardiac output as the ductus arteriosus begins to close, with compromised systemic perfusion. […] Therefore, in this study, we review the ultrasound features relevant to the prenatal diagnosis of HLHS. […] The ventricular chamber discrepancy due to the hypoplastic LV is the clue to suspect HLHS in the four-chamber view of the fetal heart. […] The view of the left ventricular outflow tract (LVOT) can confirm the diagnosis of HLHS by providing an evaluation of the degree of LVOT hypoplasia, making it possible to measure the ascending aorta, aortic isthmus, and descending aorta in millimeters and express them as Z-scores. […] The Z-scores are intended to aid in the diagnosis and follow-up of HLHS. In mild forms of HLHS, a RV/LV length ratio 1.28 appears to be the strongest variable for identifying a univentricular outcome.
  • #16 Hypoplastic Left Heart Syndrome (HLHS) | Children’s Hospital of Philadelphia
    https://www.chop.edu/conditions-diseases/hypoplastic-left-heart-syndrome-hlhs
    Hypoplastic left heart syndrome (HLHS) is a severe congenital heart defect in which the left side of the heart is underdeveloped. […] Often, hypoplastic left heart syndrome is diagnosed before birth, with fetal echocardiogram (ultrasound). […] Sometimes HLHS is diagnosed hours or days after birth and the baby will need immediate therapy. Diagnosis of HLHS may require some or all these tests: Echocardiogram (also called „echo” or ultrasound): sound waves create an image of the heart, Electrocardiogram (ECG): a record of the electrical activity of the heart, Chest x-ray, Pulse oximetry: a noninvasive way to monitor the oxygen content of the blood, Cardiac catheterization: a thin tube is inserted into the heart through a vein and/or artery in the leg which makes measurements throughout the heart, Cardiac MRI: a three-dimensional image shows the heart’s structures in detail.
  • #17 Hypoplastic Left Heart Syndrome (HLHS) | Prognosis & Treatment | Children’s Wisconsin
    https://childrenswi.org/medical-care/herma-heart/conditions/hypoplastic-left-heart-syndrome
    How is hypoplastic left heart syndrome diagnosed? […] Your child’s physician may have heard a heart murmur during a physical examination, and referred your child to a pediatric cardiologist for a diagnosis. A heart murmur is simply a noise caused by the turbulence of blood flowing through the obstruction from the right ventricle to the pulmonary artery. Symptoms your child exhibits will also help with the diagnosis. […] A pediatric cardiologist specializes in the diagnosis and medical management of congenital heart defects, as well as heart problems that may develop later in childhood. The cardiologist will perform a physical examination, listening to the heart and lungs, and make other observations that help in the diagnosis. However, other tests are needed to help with the diagnosis.
  • #18 Hypoplastic left heart syndrome – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/hypoplastic-left-heart-syndrome/diagnosis-treatment/drc-20350605
    To diagnose hypoplastic left heart syndrome (HLHS), a healthcare professional examines the baby and listens to the baby’s heart. The healthcare professional may hear a sound called a heart murmur. Rushing blood flow causes this sound. […] Tests used to find hypoplastic left heart syndrome (HLHS) in the baby before or after birth may include: […] A routine ultrasound exam during the second trimester of pregnancy usually can tell if the baby has HLHS. […] This test uses sound waves to make pictures of the heart. It shows how blood flows through the heart. It can be used after a baby is born to diagnose hypoplastic left heart syndrome. If a baby has HLHS, the test might find that the lower left heart chamber and heart valves are small. The body’s main artery, called the aorta, also may be small.
  • #19 Hypoplastic Left Heart Syndrome (HLHS): Causes, Symptoms & Treatment
    https://my.clevelandclinic.org/health/diseases/12214-hypoplastic-left-heart-syndrome-hlhs
    Hypoplastic left heart syndrome (HLHS) is a heart condition that develops before birth (congenital). The left side of a baby’s heart doesn’t form right. This keeps blood from flowing through their heart in a normal way. […] A healthcare provider can make a hypoplastic left heart syndrome diagnosis with information from harmless imaging. […] During pregnancy, healthcare providers use painless and non-invasive imaging methods such as prenatal ultrasound and fetal echocardiogram to evaluate your baby’s heart before birth. […] After your baby is born, healthcare providers diagnose the condition by observing symptoms and examining test results. They may hear a heart murmur while using a stethoscope to listen to your baby’s heart. This means blood isn’t flowing the way it should. […] Tests for a hypoplastic left heart syndrome diagnosis may include chest X-ray, echocardiogram, electrocardiogram (EKG), and pulse oximetry screening.
  • #20 Hypoplastic Left Heart Syndrome (HLHS) | Children’s Hospital of Philadelphia
    https://www.chop.edu/conditions-diseases/hypoplastic-left-heart-syndrome-hlhs
    Hypoplastic left heart syndrome (HLHS) is a severe congenital heart defect in which the left side of the heart is underdeveloped. […] Often, hypoplastic left heart syndrome is diagnosed before birth, with fetal echocardiogram (ultrasound). […] Sometimes HLHS is diagnosed hours or days after birth and the baby will need immediate therapy. Diagnosis of HLHS may require some or all these tests: Echocardiogram (also called „echo” or ultrasound): sound waves create an image of the heart, Electrocardiogram (ECG): a record of the electrical activity of the heart, Chest x-ray, Pulse oximetry: a noninvasive way to monitor the oxygen content of the blood, Cardiac catheterization: a thin tube is inserted into the heart through a vein and/or artery in the leg which makes measurements throughout the heart, Cardiac MRI: a three-dimensional image shows the heart’s structures in detail.
  • #21 Hypoplastic Left Heart Syndrome (HLHS): Diagnosis & Treatment | NewYork-Presbyterian
    https://www.nyp.org/pediatrics/heart/hypoplastic-left-heart-syndrome-hlhs/treatment
    How is Hypoplastic Left Heart Syndrome Diagnosed? Many times, hypoplastic left heart syndrome is diagnosed during routine prenatal tests. These prenatal tests were created to check for birth defects or other disorders prior to birth. HLHS can be detected during pregnancy with an ultrasound. By viewing the images, a doctor can determine the presence of congenital heart dysfunction. […] To further investigate, the doctor may request a fetal echocardiogram, which is an ultrasound of the babys heart; this test can confirm a diagnosis of HLHS. It is important to know if a baby has developed a congenital heart disorder early on. Babies with HLHS will require surgery soon after their birth to avoid heart failure or death. […] Diagnosis for hypoplastic left heart syndrome may require these tests to confirm the findings: Echocardiogram. This ultrasound test uses sound waves to create an image of the heart. Electrocardiogram (ECG). This test measures the electrical activity of the heart. Chest X-ray. X-rays are used to view the internal organs of the baby. Pulse oximetry. This non-invasive test monitors the oxygen levels in the blood. Cardiac catheterization. A thin tube is guided through a vein or artery in the leg or through the belly button (umbilicus) into the heart. Cardiac MRI. This imaging test produces clear, 3-dimentional images of the heart and any abnormalities present.
  • #22 Hypoplastic left heart syndrome – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/hypoplastic-left-heart-syndrome/diagnosis-treatment/drc-20350605
    To diagnose hypoplastic left heart syndrome (HLHS), a healthcare professional examines the baby and listens to the baby’s heart. The healthcare professional may hear a sound called a heart murmur. Rushing blood flow causes this sound. […] Tests used to find hypoplastic left heart syndrome (HLHS) in the baby before or after birth may include: […] A routine ultrasound exam during the second trimester of pregnancy usually can tell if the baby has HLHS. […] This test uses sound waves to make pictures of the heart. It shows how blood flows through the heart. It can be used after a baby is born to diagnose hypoplastic left heart syndrome. If a baby has HLHS, the test might find that the lower left heart chamber and heart valves are small. The body’s main artery, called the aorta, also may be small.
  • #23 Hypoplastic Left Heart Syndrome – Pediatrics – Merck Manual Professional Edition
    https://www.merckmanuals.com/professional/pediatrics/congenital-cardiovascular-anomalies/hypoplastic-left-heart-syndrome
    Hypoplastic left heart syndrome consists of hypoplasia of the left ventricle and ascending aorta, maldevelopment and hypoplasia of the aortic and mitral valves (frequently aortic atresia is present), an atrial septal defect, and a patent ductus arteriosus. […] Diagnosis is by emergency echocardiography. […] Diagnosis of hypoplastic left heart syndrome is suspected clinically, particularly in neonates with metabolic acidosis that worsens after receiving oxygen; oxygen lowers pulmonary vascular resistance and thus increases the relative proportion of the right ventricle output that flows to the lungs rather than through the patent ductus arteriosus to the body. Diagnosis is confirmed by emergency echocardiography. […] Chest x-ray shows cardiomegaly and pulmonary venous congestion or pulmonary edema. ECG shows right ventricular hypertrophy and diminished left ventricular forces, though it may be within normal limits for a neonate.
  • #24 Hypoplastic Left Heart Syndrome – Pediatrics – Merck Manual Professional Edition
    https://www.merckmanuals.com/professional/pediatrics/congenital-cardiovascular-anomalies/hypoplastic-left-heart-syndrome
    Hypoplastic left heart syndrome consists of hypoplasia of the left ventricle and ascending aorta, maldevelopment and hypoplasia of the aortic and mitral valves (frequently aortic atresia is present), an atrial septal defect, and a patent ductus arteriosus. […] Diagnosis is by emergency echocardiography. […] Diagnosis of hypoplastic left heart syndrome is suspected clinically, particularly in neonates with metabolic acidosis that worsens after receiving oxygen; oxygen lowers pulmonary vascular resistance and thus increases the relative proportion of the right ventricle output that flows to the lungs rather than through the patent ductus arteriosus to the body. Diagnosis is confirmed by emergency echocardiography. […] Chest x-ray shows cardiomegaly and pulmonary venous congestion or pulmonary edema. ECG shows right ventricular hypertrophy and diminished left ventricular forces, though it may be within normal limits for a neonate.
  • #25 Hypoplastic Left Heart Syndrome (HLHS) in Children | Cedars-Sinai
    https://www.cedars-sinai.org/health-library/diseases-and-conditions—pediatrics/h/hypoplastic-left-heart-syndrome.html
    In many cases, hypoplastic left heart syndrome can be diagnosed with an ultrasound while the baby is still in the womb (uterus). […] Your child will need a pediatric cardiologist to make the diagnosis. This is a doctor with special training in treating heart problems in children. […] Testing for congenital heart disease varies. Your child may have these tests: […] Echocardiogram (echo). An echo uses sound waves to make moving pictures of the heart and heart valves. Children with HLHS are almost always diagnosed by echocardiography. […] Chest X-ray. A chest X-ray may show problems that appear with HLHS. […] Electrocardiogram (ECG). An ECG records the electrical activity of the heart. It shows abnormal rhythms (arrhythmias) and finds heart muscle damage.
  • #26 Hypoplastic Left Heart Syndrome – Pediatrics – Merck Manual Professional Edition
    https://www.merckmanuals.com/professional/pediatrics/congenital-cardiovascular-anomalies/hypoplastic-left-heart-syndrome
    Hypoplastic left heart syndrome consists of hypoplasia of the left ventricle and ascending aorta, maldevelopment and hypoplasia of the aortic and mitral valves (frequently aortic atresia is present), an atrial septal defect, and a patent ductus arteriosus. […] Diagnosis is by emergency echocardiography. […] Diagnosis of hypoplastic left heart syndrome is suspected clinically, particularly in neonates with metabolic acidosis that worsens after receiving oxygen; oxygen lowers pulmonary vascular resistance and thus increases the relative proportion of the right ventricle output that flows to the lungs rather than through the patent ductus arteriosus to the body. Diagnosis is confirmed by emergency echocardiography. […] Chest x-ray shows cardiomegaly and pulmonary venous congestion or pulmonary edema. ECG shows right ventricular hypertrophy and diminished left ventricular forces, though it may be within normal limits for a neonate.
  • #27 Hypoplastic Left Heart Syndrome (HLHS) in Children | Cedars-Sinai
    https://www.cedars-sinai.org/health-library/diseases-and-conditions—pediatrics/h/hypoplastic-left-heart-syndrome.html
    In many cases, hypoplastic left heart syndrome can be diagnosed with an ultrasound while the baby is still in the womb (uterus). […] Your child will need a pediatric cardiologist to make the diagnosis. This is a doctor with special training in treating heart problems in children. […] Testing for congenital heart disease varies. Your child may have these tests: […] Echocardiogram (echo). An echo uses sound waves to make moving pictures of the heart and heart valves. Children with HLHS are almost always diagnosed by echocardiography. […] Chest X-ray. A chest X-ray may show problems that appear with HLHS. […] Electrocardiogram (ECG). An ECG records the electrical activity of the heart. It shows abnormal rhythms (arrhythmias) and finds heart muscle damage.
  • #28 Hypoplastic Left Heart Syndrome (HLHS) | Children’s Hospital of Philadelphia
    https://www.chop.edu/conditions-diseases/hypoplastic-left-heart-syndrome-hlhs
    Hypoplastic left heart syndrome (HLHS) is a severe congenital heart defect in which the left side of the heart is underdeveloped. […] Often, hypoplastic left heart syndrome is diagnosed before birth, with fetal echocardiogram (ultrasound). […] Sometimes HLHS is diagnosed hours or days after birth and the baby will need immediate therapy. Diagnosis of HLHS may require some or all these tests: Echocardiogram (also called „echo” or ultrasound): sound waves create an image of the heart, Electrocardiogram (ECG): a record of the electrical activity of the heart, Chest x-ray, Pulse oximetry: a noninvasive way to monitor the oxygen content of the blood, Cardiac catheterization: a thin tube is inserted into the heart through a vein and/or artery in the leg which makes measurements throughout the heart, Cardiac MRI: a three-dimensional image shows the heart’s structures in detail.
  • #29 Hypoplastic Left Heart Syndrome (HLHS): Overview and Hybrid Treatment | Nationwide Children’s Hospital
    https://www.nationwidechildrens.org/conditions/hypoplastic-left-heart-syndrome
    After Your Baby Is Born (Postnatal Diagnosis) […] Echocardiogram: An echocardiogram is a special ultrasound used by a pediatric heart doctor (cardiologist) to look closely at your babys heart and surrounding blood vessels. […] Heart Catheterization: This is a test to measure pressures in the heart. It can also take pictures of the heart and open a narrowing with a balloon or small metal coil, called a stent. Heart catheterizations are done while your child is asleep with medicines called anesthesia. […] Cardiac MRI: A test that uses radio waves, magnets, and a computer to make detailed pictures of the heart and blood vessels. Cardiac MRI can provide detailed information on the type and severity of heart disease. […] Some congenital conditions are caused by a babys DNA. The doctors may suggest genetic testing to find out more about this.
  • #30 Hypoplastic Left Heart Syndrome | Symptoms, Diagnosis & Treatment
    https://www.cincinnatichildrens.org/health/h/hlhs
    Hypoplastic left heart syndrome (HLHS) is one of the most complex cardiac defects seen in the newborn. […] This heart defect is diagnosed on fetal echocardiograms. It is one of the most common cardiac defects found on screening ultrasounds. Early diagnosis of the defect allows for prompt intervention at the time of birth. […] Echocardiograms can give detailed information of the anatomy of the various cardiac structures affected in hypoplastic left heart syndrome. They also give important information about the function of the right ventricle, the heart valves, the size of the atrial septal defect and the size of the patent ductus arteriosus. […] Cardiac catheterization is rarely used as part of the initial evaluation. This is due to the high risks in an unstable newborn. Catheterization does help evaluate cardiopulmonary function and anatomy in older children with hypoplastic left heart syndrome. It can help with planning for later stages in the treatment.
  • #31 Hypoplastic Left Heart Syndrome (HLHS) | Children’s Hospital of Philadelphia
    https://www.chop.edu/conditions-diseases/hypoplastic-left-heart-syndrome-hlhs
    Hypoplastic left heart syndrome (HLHS) is a severe congenital heart defect in which the left side of the heart is underdeveloped. […] Often, hypoplastic left heart syndrome is diagnosed before birth, with fetal echocardiogram (ultrasound). […] Sometimes HLHS is diagnosed hours or days after birth and the baby will need immediate therapy. Diagnosis of HLHS may require some or all these tests: Echocardiogram (also called „echo” or ultrasound): sound waves create an image of the heart, Electrocardiogram (ECG): a record of the electrical activity of the heart, Chest x-ray, Pulse oximetry: a noninvasive way to monitor the oxygen content of the blood, Cardiac catheterization: a thin tube is inserted into the heart through a vein and/or artery in the leg which makes measurements throughout the heart, Cardiac MRI: a three-dimensional image shows the heart’s structures in detail.
  • #32 Hypoplastic Left Heart Syndrome (HLHS): Diagnosis & Treatment | NewYork-Presbyterian
    https://www.nyp.org/pediatrics/heart/hypoplastic-left-heart-syndrome-hlhs/treatment
    How is Hypoplastic Left Heart Syndrome Diagnosed? Many times, hypoplastic left heart syndrome is diagnosed during routine prenatal tests. These prenatal tests were created to check for birth defects or other disorders prior to birth. HLHS can be detected during pregnancy with an ultrasound. By viewing the images, a doctor can determine the presence of congenital heart dysfunction. […] To further investigate, the doctor may request a fetal echocardiogram, which is an ultrasound of the babys heart; this test can confirm a diagnosis of HLHS. It is important to know if a baby has developed a congenital heart disorder early on. Babies with HLHS will require surgery soon after their birth to avoid heart failure or death. […] Diagnosis for hypoplastic left heart syndrome may require these tests to confirm the findings: Echocardiogram. This ultrasound test uses sound waves to create an image of the heart. Electrocardiogram (ECG). This test measures the electrical activity of the heart. Chest X-ray. X-rays are used to view the internal organs of the baby. Pulse oximetry. This non-invasive test monitors the oxygen levels in the blood. Cardiac catheterization. A thin tube is guided through a vein or artery in the leg or through the belly button (umbilicus) into the heart. Cardiac MRI. This imaging test produces clear, 3-dimentional images of the heart and any abnormalities present.
  • #33 Hypoplastic left heart syndrome | Radiology Reference Article | Radiopaedia.org
    https://radiopaedia.org/articles/hypoplastic-left-heart-syndrome?lang=us
    Hypoplastic left heart syndrome (HLHS) is a cyanotic congenital cardiac anomaly where affected individuals can have profound cyanosis and cardiac failure. […] It is one of the most common causes for a neonate to present with congestive cardiac failure and the 4th most frequent cardiac anomaly to manifest within the 1st year of life. […] The presence of an atrial septal defect and/or persistent patent foramen ovale (PFO) is crucial in residual cardiac function. […] Hypoplastic left heart syndrome is fatal if untreated. […] The four chamber view is particularly helpful in the initial in utero assessment. […] CT allows direct visualization of anomaly and vessel anatomy. […] MRI allows direct visualization of anatomy, while SSFP sequences may be used to provide an additional dynamic assessment.
  • #34 Hypoplastic left heart syndrome | Radiology Reference Article | Radiopaedia.org
    https://radiopaedia.org/articles/hypoplastic-left-heart-syndrome?lang=us
    Hypoplastic left heart syndrome (HLHS) is a cyanotic congenital cardiac anomaly where affected individuals can have profound cyanosis and cardiac failure. […] It is one of the most common causes for a neonate to present with congestive cardiac failure and the 4th most frequent cardiac anomaly to manifest within the 1st year of life. […] The presence of an atrial septal defect and/or persistent patent foramen ovale (PFO) is crucial in residual cardiac function. […] Hypoplastic left heart syndrome is fatal if untreated. […] The four chamber view is particularly helpful in the initial in utero assessment. […] CT allows direct visualization of anomaly and vessel anatomy. […] MRI allows direct visualization of anatomy, while SSFP sequences may be used to provide an additional dynamic assessment.
  • #35 Hypoplastic Left Heart Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK554576/
    Hypoplastic left heart syndrome (HLHS) is a rare but severe congenital heart defect characterized by underdevelopment of left-sided heart structures, including the left ventricle, aortic valve, mitral valve, and ascending aorta. […] Diagnosis often occurs prenatally through fetal echocardiography, with postnatal clinical findings including cyanosis, weak pulses, and signs of low cardiac output as the ductus closes. […] HLHS is often diagnosed prenatally through routine fetal ultrasonography, with advances in imaging techniques enabling earlier and more accurate detection. Early diagnosis has improved perinatal management and outcomes. […] Echocardiography is the gold standard for diagnosing HLHS, and it can detect the condition prenatally or after birth. Prenatal echocardiography may reveal progressive LV hypoplasia and hypoplasia of the aortic arch, though these changes might not be fully apparent until later in gestation. […] Genetic testing is essential to identify associated chromosomal abnormalities, such as Turner syndrome, DiGeorge syndrome, or Down syndrome, as these neonates have higher morbidity and mortality rates as well as experience longer hospital stays after surgery.
  • #36 Hypoplastic Left Heart Syndrome (HLHS): Overview and Hybrid Treatment | Nationwide Children’s Hospital
    https://www.nationwidechildrens.org/conditions/hypoplastic-left-heart-syndrome
    Cell-Free Fetal DNA Testing: A sample of blood is taken to look for copies of your baby’s (fetal) DNA. A positive result means that there could be problems with the DNA. This must be confirmed with another test to be sure of the result. Other testing may be done before or after birth, depending on your babys needs. […] Amniocentesis: A small sample of amniotic fluid that surrounds the baby in the womb is taken and tested for DNA problems. This test is usually done in the middle of the second trimester of pregnancy, usually between 14 and 20 weeks. It can be used to confirm findings from the cell-free fetal DNA test. […] Karyotype or Microarray: A sample of your babys blood is taken to test for DNA problems. This is called either a karyotype (basic chromosome study) or a microarray (more detailed look at all genes).
  • #37 Hypoplastic Left Heart Syndrome (HLHS): Overview and Hybrid Treatment | Nationwide Children’s Hospital
    https://www.nationwidechildrens.org/conditions/hypoplastic-left-heart-syndrome
    Cell-Free Fetal DNA Testing: A sample of blood is taken to look for copies of your baby’s (fetal) DNA. A positive result means that there could be problems with the DNA. This must be confirmed with another test to be sure of the result. Other testing may be done before or after birth, depending on your babys needs. […] Amniocentesis: A small sample of amniotic fluid that surrounds the baby in the womb is taken and tested for DNA problems. This test is usually done in the middle of the second trimester of pregnancy, usually between 14 and 20 weeks. It can be used to confirm findings from the cell-free fetal DNA test. […] Karyotype or Microarray: A sample of your babys blood is taken to test for DNA problems. This is called either a karyotype (basic chromosome study) or a microarray (more detailed look at all genes).
  • #38 Hypoplastic Left Heart Syndrome (HLHS): Overview and Hybrid Treatment | Nationwide Children’s Hospital
    https://www.nationwidechildrens.org/conditions/hypoplastic-left-heart-syndrome
    Cell-Free Fetal DNA Testing: A sample of blood is taken to look for copies of your baby’s (fetal) DNA. A positive result means that there could be problems with the DNA. This must be confirmed with another test to be sure of the result. Other testing may be done before or after birth, depending on your babys needs. […] Amniocentesis: A small sample of amniotic fluid that surrounds the baby in the womb is taken and tested for DNA problems. This test is usually done in the middle of the second trimester of pregnancy, usually between 14 and 20 weeks. It can be used to confirm findings from the cell-free fetal DNA test. […] Karyotype or Microarray: A sample of your babys blood is taken to test for DNA problems. This is called either a karyotype (basic chromosome study) or a microarray (more detailed look at all genes).
  • #39 Hypoplastic Left Heart Syndrome (HLHS): Overview and Hybrid Treatment | Nationwide Children’s Hospital
    https://www.nationwidechildrens.org/conditions/hypoplastic-left-heart-syndrome
    Cell-Free Fetal DNA Testing: A sample of blood is taken to look for copies of your baby’s (fetal) DNA. A positive result means that there could be problems with the DNA. This must be confirmed with another test to be sure of the result. Other testing may be done before or after birth, depending on your babys needs. […] Amniocentesis: A small sample of amniotic fluid that surrounds the baby in the womb is taken and tested for DNA problems. This test is usually done in the middle of the second trimester of pregnancy, usually between 14 and 20 weeks. It can be used to confirm findings from the cell-free fetal DNA test. […] Karyotype or Microarray: A sample of your babys blood is taken to test for DNA problems. This is called either a karyotype (basic chromosome study) or a microarray (more detailed look at all genes).
  • #40 Hypoplastic Left Heart Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK554576/
    Hypoplastic left heart syndrome (HLHS) is a rare but severe congenital heart defect characterized by underdevelopment of left-sided heart structures, including the left ventricle, aortic valve, mitral valve, and ascending aorta. […] Diagnosis often occurs prenatally through fetal echocardiography, with postnatal clinical findings including cyanosis, weak pulses, and signs of low cardiac output as the ductus closes. […] HLHS is often diagnosed prenatally through routine fetal ultrasonography, with advances in imaging techniques enabling earlier and more accurate detection. Early diagnosis has improved perinatal management and outcomes. […] Echocardiography is the gold standard for diagnosing HLHS, and it can detect the condition prenatally or after birth. Prenatal echocardiography may reveal progressive LV hypoplasia and hypoplasia of the aortic arch, though these changes might not be fully apparent until later in gestation. […] Genetic testing is essential to identify associated chromosomal abnormalities, such as Turner syndrome, DiGeorge syndrome, or Down syndrome, as these neonates have higher morbidity and mortality rates as well as experience longer hospital stays after surgery.
  • #41 Hypoplastic left heart syndrome – Wikipedia
    https://en.wikipedia.org/wiki/Hypoplastic_left_heart_syndrome
    Hypoplastic left heart syndrome (HLHS) is a rare congenital heart defect in which the left side of the heart is severely underdeveloped and incapable of supporting the systemic circulation. […] Diagnosis can occur prenatally via ultrasound or shortly after birth via echocardiography. […] Hypoplastic left heart syndrome can be diagnosed prenatally or after birth via echocardiography. Typical findings include a small left ventricle and aorta, abnormalities of the mitral and aortic valves, retrograde flow in the transverse arch of the aorta, and left-to-right flow between the atria. It is often recognized during the second trimester of pregnancy, between 18 and 24 weeks’ gestation. […] Chest x-ray may also be utilized in the diagnosis of hypoplastic left heart syndrome, and typically shows an enlarged cardiac silhouette along with signs pulmonary hypertension. Blood work and genetic testing remain of high importance as well, and should include a complete blood count, electrolytes, lactate, and arterial blood gas to evaluate acid-base status and oxygenation. Genetic testing may be beneficial to obtain and has been associated with multiple chromosomal abnormalities including Turner, DiGeorge, and Down syndrome.
  • #42 Advancements in prenatal diagnosis and management of hypoplastic left heart syndrome: A multidisciplinary approach and future directions
    https://www.wjgnet.com/1949-8462/full/v17/i3/103668.htm
    Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of left-sided cardiac structures such as underdevelopment of the left ventricle, aorta, and aortic arch along mitral atresia or stenosis, all of which ultimately result in left ventricular outflow tract obstruction. […] Prenatal diagnosis of HLHS is one of the most significant aspects of the management of the disease, as it is associated with decreased mortality, decreased duration of hospital stay, and low risk of postnatal brain injury. […] The most commonly employed tools for detecting prenatal cardiac defects are fetal ultrasound (fUSG) and fetal echocardiography (fECHO). […] In the context of various congenital malformations, which collectively represent a leading cause of infant mortality, fECHO has emerged as a valuable diagnostic tool.
  • #43 Hypoplastic left heart syndrome – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/hypoplastic-left-heart-syndrome/diagnosis-treatment/drc-20350605
    If hypoplastic left heart syndrome is found before birth, healthcare professionals usually recommend giving birth at a hospital with a cardiac surgery center. […] Most children with hypoplastic left heart syndrome need several surgeries. […] Many babies with hypoplastic left heart syndrome need a heart transplant. […] After surgery or a transplant, a baby needs lifelong care with a heart doctor trained in congenital heart disease to watch for complications.
  • #44 Hypoplastic Left Heart Syndrome Diagnosis & Treatment | Mount Sinai – New York
    https://www.mountsinai.org/locations/childrens-heart/conditions/hlhs
    If your baby has hypoplastic left heart syndrome (HLHS), you can find comfort in knowing that specialists at Mount Sinai Kravis Children’s Heart Center are here to help. We have advanced diagnostics and surgical expertise along with interstage monitoring to treat and manage your child with HLHS. […] Our doctors can diagnose hypoplastic left heart syndrome during pregnancy. This usually happens at the time of a regular prenatal ultrasound, when your obstetrician may notice a possible abnormality of your unborn baby’s heart. You then will need to see a specialist for a more detailed diagnosis. […] If HLHS is not diagnosed before your baby is born, it may be suspected based on low-oxygen levels during a congenital heart defect screening, or if your baby develops any HLHS symptoms. An accurate diagnosis can be made with an echocardiogram.
  • #45 Hypoplastic Left Heart Syndrome Diagnosis & Treatment | Cardinal Glennon
    https://www.ssmhealth.com/cardinal-glennon/fetal-care-institute/fetal-heart-program/heart-conditions/hypoplastic-left-heart-syndrome
    Hypoplastic left heart syndrome (HLHS) is a congenital heart defect, where the left side of the babys heart is underdeveloped. […] If your doctor suspects a fetal heart anomaly after reviewing your routine ultrasound, he or she may request a fetal echocardiogram (echo), an ultrasound of the fetuss heart. This safe, noninvasive test shows the structure of the heart and how it is functioning, which can help us confirm the diagnosis of HLHS and discuss the best options for treatment during or after delivery. […] After delivery, the baby will need prostaglandin (PGE), an intravenous medication that keeps the patent ductus arteriosus (a normal connection present in babies in the womb) open. […] Within the first week of the babys birth, the first of three heart surgeries will be performed unless there are other medical concerns that could delay surgery. […] Following these surgeries, your child will likely need lifelong follow-up visits with a cardiologist to monitor their progress.
  • #46 Pediatric Hypoplastic Left Heart Syndrome Treatment & Management: Approach Considerations, Medical Care, Surgical Care
    https://emedicine.medscape.com/article/890196-treatment
    Prenatal diagnosis of hypoplastic left heart syndrome (HLHS) by fetal echocardiography is possible. When the HLHS is identified, it is advisable to have the baby deliver at an institution where tertiary care, including neonatal cardiac surgery, is performed routinely. […] If a diagnosis of hypoplastic left heart syndrome is suspected, start prostaglandin E1 infusion immediately to establish ductal patency and ensure adequate systemic perfusion. […] Successful preoperative management depends on providing adequate systemic blood flow while limiting pulmonary overcirculation. […] Correction of metabolic acidosis with sodium bicarbonate infusion is essential in early management. […] Serial blood gas analysis is necessary. Initially, an umbilical arterial catheter is useful to obtain frequent blood samples.
  • #47 Hypoplastic Left Heart Syndrome Diagnosis & Treatment | Cardinal Glennon
    https://www.ssmhealth.com/cardinal-glennon/fetal-care-institute/fetal-heart-program/heart-conditions/hypoplastic-left-heart-syndrome
    Hypoplastic left heart syndrome (HLHS) is a congenital heart defect, where the left side of the babys heart is underdeveloped. […] If your doctor suspects a fetal heart anomaly after reviewing your routine ultrasound, he or she may request a fetal echocardiogram (echo), an ultrasound of the fetuss heart. This safe, noninvasive test shows the structure of the heart and how it is functioning, which can help us confirm the diagnosis of HLHS and discuss the best options for treatment during or after delivery. […] After delivery, the baby will need prostaglandin (PGE), an intravenous medication that keeps the patent ductus arteriosus (a normal connection present in babies in the womb) open. […] Within the first week of the babys birth, the first of three heart surgeries will be performed unless there are other medical concerns that could delay surgery. […] Following these surgeries, your child will likely need lifelong follow-up visits with a cardiologist to monitor their progress.
  • #48 Advancements in prenatal diagnosis and management of hypoplastic left heart syndrome: A multidisciplinary approach and future directions
    https://www.wjgnet.com/1949-8462/full/v17/i3/103668.htm
    Prenatal diagnosis empowers parents to make informed decisions about their child’s treatment, ranging from surgical interventions to supportive care. […] A multidisciplinary approach to prenatal care, involving obstetricians, neonatologists, pediatric cardiologists, and cardiac surgeons, is essential for delivering comprehensive and coordinated care. […] Prenatal counseling and education are pivotal in helping parents understand the complexity of the condition, the available management options, and the potential long-term effects of treatment. […] Although advances in surgical techniques and staged palliation have improved survival rates, challenges remain, including hemodynamic issues, neurological complications, and the need for lifelong immunosuppression in transplant cases. […] Future directions in fetal cardiology include continued research into the genetic basis of HLHS, exploration of stem cell therapies, and bioengineering solutions, and expanding the availability of heart transplantation.
  • #49 Advancements in prenatal diagnosis and management of hypoplastic left heart syndrome: A multidisciplinary approach and future directions
    https://www.wjgnet.com/1949-8462/full/v17/i3/103668.htm
    Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of left-sided cardiac structures such as underdevelopment of the left ventricle, aorta, and aortic arch along mitral atresia or stenosis, all of which ultimately result in left ventricular outflow tract obstruction. […] Prenatal diagnosis of HLHS is one of the most significant aspects of the management of the disease, as it is associated with decreased mortality, decreased duration of hospital stay, and low risk of postnatal brain injury. […] The most commonly employed tools for detecting prenatal cardiac defects are fetal ultrasound (fUSG) and fetal echocardiography (fECHO). […] In the context of various congenital malformations, which collectively represent a leading cause of infant mortality, fECHO has emerged as a valuable diagnostic tool.
  • #50 Advancements in prenatal diagnosis and management of hypoplastic left heart syndrome: A multidisciplinary approach and future directions
    https://www.wjgnet.com/1949-8462/full/v17/i3/103668.htm
    Prenatal diagnosis empowers parents to make informed decisions about their child’s treatment, ranging from surgical interventions to supportive care. […] A multidisciplinary approach to prenatal care, involving obstetricians, neonatologists, pediatric cardiologists, and cardiac surgeons, is essential for delivering comprehensive and coordinated care. […] Prenatal counseling and education are pivotal in helping parents understand the complexity of the condition, the available management options, and the potential long-term effects of treatment. […] Although advances in surgical techniques and staged palliation have improved survival rates, challenges remain, including hemodynamic issues, neurological complications, and the need for lifelong immunosuppression in transplant cases. […] Future directions in fetal cardiology include continued research into the genetic basis of HLHS, exploration of stem cell therapies, and bioengineering solutions, and expanding the availability of heart transplantation.
  • #51 Pediatric Hypoplastic Left Heart Syndrome Treatment & Management: Approach Considerations, Medical Care, Surgical Care
    https://emedicine.medscape.com/article/890196-treatment
    Consult a pediatric cardiologist, pediatric cardiovascular surgeon, genetic specialist if a chromosomal abnormality is suspected, and an interventional pediatric cardiologist. […] Transfer the infant to a hospital with appropriate ICUs. Pediatric cardiology and cardiovascular surgery services must be immediately available.
  • #52 Advancements in prenatal diagnosis and management of hypoplastic left heart syndrome: A multidisciplinary approach and future directions
    https://www.wjgnet.com/1949-8462/full/v17/i3/103668.htm
    Prenatal diagnosis empowers parents to make informed decisions about their child’s treatment, ranging from surgical interventions to supportive care. […] A multidisciplinary approach to prenatal care, involving obstetricians, neonatologists, pediatric cardiologists, and cardiac surgeons, is essential for delivering comprehensive and coordinated care. […] Prenatal counseling and education are pivotal in helping parents understand the complexity of the condition, the available management options, and the potential long-term effects of treatment. […] Although advances in surgical techniques and staged palliation have improved survival rates, challenges remain, including hemodynamic issues, neurological complications, and the need for lifelong immunosuppression in transplant cases. […] Future directions in fetal cardiology include continued research into the genetic basis of HLHS, exploration of stem cell therapies, and bioengineering solutions, and expanding the availability of heart transplantation.
  • #53 Hypoplastic Left Heart Syndrome (HLHS) | Children’s Hospital of Philadelphia
    https://www.chop.edu/conditions-diseases/hypoplastic-left-heart-syndrome-hlhs
    Children who have had surgical reconstruction for HLHS require life-long care by a cardiologist experienced in congenital heart disease. […] As a group, children with complex congenital heart defects who have had open heart surgery as infants are also at a higher risk for neurodevelopmental issues when compared to children without congenital heart defects.
  • #54
    https://journals.lww.com/ijab/fulltext/2017/07030/prenatal_sonographic_diagnosis_of_hypoplastic_left.18.aspx
    Hypoplastic left heart syndrome (HLHS) represents a variety of cardiac malformations that may result from errors in the early stages of cardiac development. […] Over the recent years, the improved resolution of advanced equipment with awareness and increased performance of second-trimester ultrasound examinations for the assessment of fetal anomalies have helped in understanding the spectrum and have expanded our knowledge of HLHS. […] Prenatal recognition of disease also allows families to prepare for a child with a life-threatening defect by consultation with the multidisciplinary team that will care for their newborn and discussing the short- and long-term prognosis. […] However, the prenatal sonological diagnosis is difficult and hence many cases are missed undiagnosed. […] The incidence of hypoplastic left heart syndrome (HLHS) is approximately 1 in 10,000 live births; however, their prenatal diagnosis by sonography remains very less.
  • #55 Advancements in prenatal diagnosis and management of hypoplastic left heart syndrome: A multidisciplinary approach and future directions
    https://www.wjgnet.com/1949-8462/full/v17/i3/103668.htm
    The clinical presentation of HLHS closely resembles symptoms associated with other cardiac structural abnormalities that obstruct the left ventricular outflow tract, hindering its ability to sustain systemic circulation and requiring ductal-dependent blood flow ex utero. […] The following ECHO characteristics can be used to diagnose HLHS: (1) A left ventricular end-diastolic dimension of less than 9 mm; (2) An aortic root diameter of less than 6 mm; (3) A ratio of left ventricular end-diastolic to right ventricular end-diastolic dimension of less than 0.6; and (4) An absence or significantly distorted and small-amplitude mitral valve echo. […] Recent research has highlighted the growing interest in this modality, particularly in addressing the known limitations of fECHO. […] Prenatal management strategies, including FAV, FAS, and MH therapy, show promise in improving outcomes for HLHS patients.
  • #56 Hypoplastic Left Heart Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK554576/
    Hypoplastic left heart syndrome (HLHS) is a rare but severe congenital heart defect characterized by underdevelopment of left-sided heart structures, including the left ventricle, aortic valve, mitral valve, and ascending aorta. […] Diagnosis often occurs prenatally through fetal echocardiography, with postnatal clinical findings including cyanosis, weak pulses, and signs of low cardiac output as the ductus closes. […] HLHS is often diagnosed prenatally through routine fetal ultrasonography, with advances in imaging techniques enabling earlier and more accurate detection. Early diagnosis has improved perinatal management and outcomes. […] Echocardiography is the gold standard for diagnosing HLHS, and it can detect the condition prenatally or after birth. Prenatal echocardiography may reveal progressive LV hypoplasia and hypoplasia of the aortic arch, though these changes might not be fully apparent until later in gestation. […] Genetic testing is essential to identify associated chromosomal abnormalities, such as Turner syndrome, DiGeorge syndrome, or Down syndrome, as these neonates have higher morbidity and mortality rates as well as experience longer hospital stays after surgery.
  • #57 Advancements in prenatal diagnosis and management of hypoplastic left heart syndrome: A multidisciplinary approach and future directions
    https://www.wjgnet.com/1949-8462/full/v17/i3/103668.htm
    Prenatal diagnosis empowers parents to make informed decisions about their child’s treatment, ranging from surgical interventions to supportive care. […] A multidisciplinary approach to prenatal care, involving obstetricians, neonatologists, pediatric cardiologists, and cardiac surgeons, is essential for delivering comprehensive and coordinated care. […] Prenatal counseling and education are pivotal in helping parents understand the complexity of the condition, the available management options, and the potential long-term effects of treatment. […] Although advances in surgical techniques and staged palliation have improved survival rates, challenges remain, including hemodynamic issues, neurological complications, and the need for lifelong immunosuppression in transplant cases. […] Future directions in fetal cardiology include continued research into the genetic basis of HLHS, exploration of stem cell therapies, and bioengineering solutions, and expanding the availability of heart transplantation.
  • #58
    https://journals.lww.com/ijab/fulltext/2017/07030/prenatal_sonographic_diagnosis_of_hypoplastic_left.18.aspx
    Hypoplastic left heart syndrome (HLHS) represents a variety of cardiac malformations that may result from errors in the early stages of cardiac development. […] Over the recent years, the improved resolution of advanced equipment with awareness and increased performance of second-trimester ultrasound examinations for the assessment of fetal anomalies have helped in understanding the spectrum and have expanded our knowledge of HLHS. […] Prenatal recognition of disease also allows families to prepare for a child with a life-threatening defect by consultation with the multidisciplinary team that will care for their newborn and discussing the short- and long-term prognosis. […] However, the prenatal sonological diagnosis is difficult and hence many cases are missed undiagnosed. […] The incidence of hypoplastic left heart syndrome (HLHS) is approximately 1 in 10,000 live births; however, their prenatal diagnosis by sonography remains very less.
  • #59
    https://www.e-cep.org/journal/view.php?number=2002450215
    Typical hypoplastic left heart syndrome(HLHS) is a distinct pathologic entity with aortic atresia, mitral atresia, very hypoplastic or absent left ventricle and thread like ascending aorta. […] The diagnosis of HLHS in fetal echocardiography is based on 2-dimensional echocardio -graphic evidence of a diminutive ascending aorta, aortic atresia, mitral atresia or severe stenosis and a hypoplastic left ventricle. […] This report shows a fetal case who showed hypoplastic left side chambers and retrograde isthmic flow and was diagnosed with hypoplastic left heart syndrome. […] This case illustrates the extreme difficulty of assessing left ventricle in a fetus.
  • #60 4.5 Hypoplastic Left Heart Syndrome | CDC
    https://archive.cdc.gov/www_cdc_gov/ncbddd/birthdefects/surveillancemanual/chapters/chapter-4/chapter4.5g.html
    Echocardiography has largely superseded other imaging techniques. Newborn screening via pulse oximetry which is based on the non-invasive detection of low peripheral oxygen saturation is effective in detecting HLHS as long as the condition decreases the blood oxygen saturation below the cut-off for newborn screening testing. Note that HLHS, especially in the presence of a widely open ductus arteriosus, might be missed in the early newborn period and could become clinically obvious only after the ductus closes, which might happen after discharge from the nursery or birthing centre.
  • #61
    https://journals.lww.com/ijab/fulltext/2017/07030/prenatal_sonographic_diagnosis_of_hypoplastic_left.18.aspx
    Hypoplastic left heart syndrome (HLHS) represents a variety of cardiac malformations that may result from errors in the early stages of cardiac development. […] Over the recent years, the improved resolution of advanced equipment with awareness and increased performance of second-trimester ultrasound examinations for the assessment of fetal anomalies have helped in understanding the spectrum and have expanded our knowledge of HLHS. […] Prenatal recognition of disease also allows families to prepare for a child with a life-threatening defect by consultation with the multidisciplinary team that will care for their newborn and discussing the short- and long-term prognosis. […] However, the prenatal sonological diagnosis is difficult and hence many cases are missed undiagnosed. […] The incidence of hypoplastic left heart syndrome (HLHS) is approximately 1 in 10,000 live births; however, their prenatal diagnosis by sonography remains very less.
  • #62 Hypoplastic left heart syndrome | Orphanet Journal of Rare Diseases | Full Text
    https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-2-23
    Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. […] The most useful diagnostic modality is the echocardiogram. The syndrome can be diagnosed by fetal echocardiography between 18 and 22 weeks of gestation. […] The clinical presentation may resemble those of neonates with other left-sided obstructive lesions where the systemic circulation is dependent on ductal flow. These conditions may include critical aortic stenosis, coarctation of the aorta, interrupted aortic arch. […] The syndrome can be diagnosed by fetal echocardiography between 18 and 22 weeks of gestation.
  • #63 Hypoplastic Left Heart Syndrome – Pediatrics – Merck Manual Professional Edition
    https://www.merckmanuals.com/professional/pediatrics/congenital-cardiovascular-anomalies/hypoplastic-left-heart-syndrome
    Hypoplastic left heart syndrome consists of hypoplasia of the left ventricle and ascending aorta, maldevelopment and hypoplasia of the aortic and mitral valves (frequently aortic atresia is present), an atrial septal defect, and a patent ductus arteriosus. […] Diagnosis is by emergency echocardiography. […] Diagnosis of hypoplastic left heart syndrome is suspected clinically, particularly in neonates with metabolic acidosis that worsens after receiving oxygen; oxygen lowers pulmonary vascular resistance and thus increases the relative proportion of the right ventricle output that flows to the lungs rather than through the patent ductus arteriosus to the body. Diagnosis is confirmed by emergency echocardiography. […] Chest x-ray shows cardiomegaly and pulmonary venous congestion or pulmonary edema. ECG shows right ventricular hypertrophy and diminished left ventricular forces, though it may be within normal limits for a neonate.
  • #64 Hypoplastic left heart syndrome | Orphanet Journal of Rare Diseases | Full Text
    https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-2-23
    Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. […] The most useful diagnostic modality is the echocardiogram. The syndrome can be diagnosed by fetal echocardiography between 18 and 22 weeks of gestation. […] The clinical presentation may resemble those of neonates with other left-sided obstructive lesions where the systemic circulation is dependent on ductal flow. These conditions may include critical aortic stenosis, coarctation of the aorta, interrupted aortic arch. […] The syndrome can be diagnosed by fetal echocardiography between 18 and 22 weeks of gestation.
  • #65 Hypoplastic Left Heart Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK554576/
    Hypoplastic left heart syndrome (HLHS) is a rare but severe congenital heart defect characterized by underdevelopment of left-sided heart structures, including the left ventricle, aortic valve, mitral valve, and ascending aorta. […] Diagnosis often occurs prenatally through fetal echocardiography, with postnatal clinical findings including cyanosis, weak pulses, and signs of low cardiac output as the ductus closes. […] HLHS is often diagnosed prenatally through routine fetal ultrasonography, with advances in imaging techniques enabling earlier and more accurate detection. Early diagnosis has improved perinatal management and outcomes. […] Echocardiography is the gold standard for diagnosing HLHS, and it can detect the condition prenatally or after birth. Prenatal echocardiography may reveal progressive LV hypoplasia and hypoplasia of the aortic arch, though these changes might not be fully apparent until later in gestation. […] Genetic testing is essential to identify associated chromosomal abnormalities, such as Turner syndrome, DiGeorge syndrome, or Down syndrome, as these neonates have higher morbidity and mortality rates as well as experience longer hospital stays after surgery.
  • #66 Hypoplastic left heart syndrome – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/hypoplastic-left-heart-syndrome/diagnosis-treatment/drc-20350605
    To diagnose hypoplastic left heart syndrome (HLHS), a healthcare professional examines the baby and listens to the baby’s heart. The healthcare professional may hear a sound called a heart murmur. Rushing blood flow causes this sound. […] Tests used to find hypoplastic left heart syndrome (HLHS) in the baby before or after birth may include: […] A routine ultrasound exam during the second trimester of pregnancy usually can tell if the baby has HLHS. […] This test uses sound waves to make pictures of the heart. It shows how blood flows through the heart. It can be used after a baby is born to diagnose hypoplastic left heart syndrome. If a baby has HLHS, the test might find that the lower left heart chamber and heart valves are small. The body’s main artery, called the aorta, also may be small.
  • #67 4.5 Hypoplastic Left Heart Syndrome | CDC
    https://archive.cdc.gov/www_cdc_gov/ncbddd/birthdefects/surveillancemanual/chapters/chapter-4/chapter4.5g.html
    Echocardiography has largely superseded other imaging techniques. Newborn screening via pulse oximetry which is based on the non-invasive detection of low peripheral oxygen saturation is effective in detecting HLHS as long as the condition decreases the blood oxygen saturation below the cut-off for newborn screening testing. Note that HLHS, especially in the presence of a widely open ductus arteriosus, might be missed in the early newborn period and could become clinically obvious only after the ductus closes, which might happen after discharge from the nursery or birthing centre.
  • #68 Advancements in prenatal diagnosis and management of hypoplastic left heart syndrome: A multidisciplinary approach and future directions
    https://www.wjgnet.com/1949-8462/full/v17/i3/103668.htm
    Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of left-sided cardiac structures such as underdevelopment of the left ventricle, aorta, and aortic arch along mitral atresia or stenosis, all of which ultimately result in left ventricular outflow tract obstruction. […] Prenatal diagnosis of HLHS is one of the most significant aspects of the management of the disease, as it is associated with decreased mortality, decreased duration of hospital stay, and low risk of postnatal brain injury. […] The most commonly employed tools for detecting prenatal cardiac defects are fetal ultrasound (fUSG) and fetal echocardiography (fECHO). […] In the context of various congenital malformations, which collectively represent a leading cause of infant mortality, fECHO has emerged as a valuable diagnostic tool.
  • #69
    https://journals.lww.com/ijab/fulltext/2017/07030/prenatal_sonographic_diagnosis_of_hypoplastic_left.18.aspx
    HLHS can be detected on prenatal sonography between 18 and 22 weeks of gestation with a 4-chamber view of the fetal heart. […] Prenatal sonological diagnosis has been shown to improve outcome when compared with neonates not diagnosed before birth. […] The most important sonographic findings include the following: a small, thick-walled and hyperechoic left ventricle, with weak contractility. […] Prenatal diagnosis is important for pregnancy counseling and for planning the delivery, due to the severity of this condition and the specialized surgical treatment that is required. […] HLHS which is a complex combination of cardiac malformations can be detected with prenatal evaluation with ultrasound providing an option of pregnancy termination to the parents, or intrauterine interventions may be performed if the parents wish to continue the pregnancy.
  • #70 Advancements in prenatal diagnosis and management of hypoplastic left heart syndrome: A multidisciplinary approach and future directions
    https://www.wjgnet.com/1949-8462/full/v17/i3/103668.htm
    Prenatal diagnosis empowers parents to make informed decisions about their child’s treatment, ranging from surgical interventions to supportive care. […] A multidisciplinary approach to prenatal care, involving obstetricians, neonatologists, pediatric cardiologists, and cardiac surgeons, is essential for delivering comprehensive and coordinated care. […] Prenatal counseling and education are pivotal in helping parents understand the complexity of the condition, the available management options, and the potential long-term effects of treatment. […] Although advances in surgical techniques and staged palliation have improved survival rates, challenges remain, including hemodynamic issues, neurological complications, and the need for lifelong immunosuppression in transplant cases. […] Future directions in fetal cardiology include continued research into the genetic basis of HLHS, exploration of stem cell therapies, and bioengineering solutions, and expanding the availability of heart transplantation.