Pniowiec tętniczy
Diagnostyka i diagnoza

Pniowiec tętniczy to rzadka wrodzona wada serca charakteryzująca się obecnością pojedynczego dużego naczynia tętniczego wychodzącego z serca, zamiast dwóch prawidłowych – aorty i tętnicy płucnej. Wada ta najczęściej współistnieje z ubytkiem w przegrodzie międzykomorowej (VSD), co prowadzi do mieszania się krwi utlenowanej i odtlenowanej. Diagnostyka prenatalna opiera się na przezklatkowym badaniu echokardiograficznym płodu (dokładność około 92,3%), ultrasonografii 3D/4D oraz technikach dopplerowskich, umożliwiających wizualizację pojedynczego pnia tętniczego i tętnic płucnych. Po urodzeniu rozpoznanie wspomagają objawy kliniczne takie jak sinica, tachypnea, hepatomegalia, tachykardia oraz charakterystyczne szmery serca. Diagnostyka obrazowa obejmuje echokardiografię, EKG, RTG klatki piersiowej, cewnikowanie serca, tomografię komputerową (CCT) i rezonans magnetyczny serca (CMRI), które pozwalają na ocenę anatomii, funkcji serca oraz powikłań, w tym nadciśnienia płucnego.

Diagnostyka pniowca tętniczego (truncus arteriosus)

Pniowiec tętniczy jest rzadką wrodzoną wadą serca, w której występuje pojedyncze duże naczynie (pień tętniczy) wychodzące z serca, zamiast prawidłowych dwóch naczyń – aorty i tętnicy płucnej. Wada ta zazwyczaj współistnieje z ubytkiem w przegrodzie międzykomorowej (VSD), który umożliwia mieszanie się krwi bogatej w tlen z krwią ubogą w tlen.12 Diagnostyka pniowca tętniczego może odbywać się zarówno w okresie prenatalnym, jak i po urodzeniu dziecka.

Diagnostyka prenatalna

Pniowiec tętniczy może zostać zdiagnozowany już w okresie prenatalnym podczas rutynowego badania ultrasonograficznego lub bardziej specjalistycznego badania – echokardiogram-plodowy/” title=”echokardiogram płodowy” class=”to-tag” data-termid=”125620″>płodowego echokardiogramu.12 Dokładność diagnostyczna echokardiografii prenatalnej w wykrywaniu pniowca tętniczego wynosi około 92,3%, według niektórych ośrodków medycznych.1

Diagnostyka prenatalna zazwyczaj obejmuje:

  • Przezklatkowe badanie echokardiograficzne płodu – może być wykonane już od 13 tygodnia ciąży, choć najczęściej diagnoza stawiana jest między 20 a 25 tygodniem.12
  • Obrazowanie wielopłaszczyznowe w ultrasonografii 3D i 4D – pozwala na jednoczesną wizualizację trzech ortogonalnych płaszczyzn anatomicznych (poprzecznej, strzałkowej i czołowej), co znacznie ułatwia diagnostykę złożonych wad serca.1
  • Obrazowanie tomograficzne (TUI) i obrazowanie metodą dopplera mocy – uzupełniające techniki obrazowania w ultrasonografii 3D i 4D.2

Najważniejszym objawem diagnostycznym w badaniu prenatalnym jest wizualizacja pojedynczego naczynia tętniczego wychodzącego z serca i nachodzącego na ubytek przegrody międzykomorowej. Jednak znalezisko to może być trudne do odróżnienia od innych wad serca, takich jak tetralogia Fallota lub atrezja płucna z ubytkiem przegrody międzykomorowej. Kluczowym elementem różnicującym jest uwidocznienie tętnic płucnych odchodzących od wspólnego pnia tętniczego.12

Diagnostyka poporodowa

Po urodzeniu, diagnostyka pniowca tętniczego zazwyczaj rozpoczyna się od obserwacji klinicznych i badania fizykalnego dziecka. Noworodki z pniowcem tętniczym mogą prezentować następujące objawy:12

  • Sinica (niebieskawe lub szarawe zabarwienie skóry i błon śluzowych)
  • Problemy z oddychaniem (tachypnea, wciąganie międzyżebrowe, stękanie, poruszanie skrzydełkami nosa)
  • Trudności w karmieniu i przyroście masy ciała
  • Męczliwość, senność
  • Tachykardia
  • Hepatomegalia (powiększenie wątroby)

Podczas badania fizykalnego lekarz może stwierdzić:12

  • Szmer serca – charakterystyczny dźwięk spowodowany turbulentnym przepływem krwi przez wadliwe struktury serca
  • Wzmożone tętnienie – silne, gwałtowne bicie serca
  • Słaby puls
  • Zastój płucny – płyn w płucach wykrywalny podczas osłuchiwania

Badania diagnostyczne

W celu potwierdzenia diagnozy pniowca tętniczego wykonuje się szereg badań diagnostycznych:123

Badania podstawowe
  • Pulsoksymetria – nieinwazyjny test mierzący poziom tlenu we krwi za pomocą sondy umieszczonej na palcu lub stopie dziecka. Niskie poziomy tlenu mogą sugerować obecność pniowca tętniczego. Jest to często element rutynowych badań przesiewowych u noworodków.12
  • Test hipersoksji – pomiar gazometrii tętniczej przed i po podaniu 100% tlenu, co pomaga odróżnić chorobę serca od pierwotnej patologii płucnej.1
  • Elektrokardiogram (EKG) – rejestruje aktywność elektryczną serca, wykazując nieprawidłowe rytmy i cechy przeciążenia mięśnia sercowego. U pacjentów z pniowcem tętniczym często wykazuje przerost obu komór oraz może uwidocznić cechy powiększenia lewego przedsionka w przypadku znacznego nadmiernego przepływu płucnego.12
Badania obrazowe
  • Echokardiogram (echo) – najważniejsze badanie w diagnostyce pniowca tętniczego. Wykorzystuje fale dźwiękowe do tworzenia ruchomych obrazów serca i zastawek. W przypadku pniowca tętniczego uwidacznia:123
    • Pojedyncze duże naczynie wychodzące z serca
    • Ubytek w przegrodzie międzykomorowej
    • Nieprawidłowości zastawki pnia tętniczego
    • Nieprawidłowy przepływ krwi przez serce
    • Ilość krwi przepływającej do płuc
    • Ryzyko nadciśnienia płucnego
  • Rentgen klatki piersiowej (RTG) – pokazuje ogólny rozmiar i kształt serca oraz płuc. U pacjentów z pniowcem tętniczym może wykazać:12
    • Kardiomegalię (powiększenie serca)
    • Zwiększone rysowanie naczyniowe płuc
    • Poszerzenie śródpiersia
    • Stosunkowo wysokie położenie tętnic płucnych
    • Prawostronny łuk aorty (w około 30% przypadków)
Badania zaawansowane
  • Cewnikowanie serca – inwazyjne badanie dostarczające szczegółowych informacji o strukturach wewnątrz serca. Podczas tego badania:12
    • Cienki, elastyczny cewnik wprowadza się do naczynia krwionośnego w pachwinie i przesuwa do serca
    • Dokonuje się pomiarów ciśnienia krwi i poziomu tlenu w komorach serca
    • Ocenia się tętnicę płucną i aortę
    • Wstrzykuje się środek kontrastowy, aby lepiej zobrazować struktury wewnątrz serca
  • Tomografia komputerowa serca (CCT) – dostarcza szczegółowych obrazów anatomii serca i naczyń. Jest szczególnie przydatna w ocenie anomalii tętnic wieńcowych, łuku aorty i innych nieprawidłowości pozasercowych.12
  • Rezonans magnetyczny serca (CMRI) – zapewnia dokładne obrazy anatomii serca i funkcji krążenia, szczególnie pomocne w ocenie struktury i funkcji mięśnia sercowego.12

Badania genetyczne

Około 50% noworodków z pniowcem tętniczym ma powiązane zaburzenia genetyczne, najczęściej zespół delecji chromosomu 22q11.2 (znany również jako zespół DiGeorge’a), który występuje u około 20% przypadków.1 Z tego powodu zalecane jest wykonanie badań genetycznych, które mogą obejmować:12

  • Test krwi w kierunku zespołu delecji 22q11.2
  • Analiza chromosomowa
  • Badania prenatalne w przypadku diagnostyki wady w okresie ciąży

Diagnostyka różnicowa

Pniowiec tętniczy należy różnicować z innymi wrodzonymi wadami serca, które mogą dawać podobny obraz kliniczny lub echokardiograficzny:12

  • Tetralogia Fallota – szczególnie z atrezją płucną
  • Podwójna droga odpływu z prawej komory z atrezją płucną
  • Atrezja aorty z ubytkiem przegrody międzykomorowej

Kluczowym elementem różnicującym jest uwidocznienie tętnic płucnych odchodzących bezpośrednio od wspólnego pnia tętniczego.1

Wyzwania diagnostyczne

Diagnostyka pniowca tętniczego może być wyzwaniem z kilku powodów:12

  • Rzadkość występowania wady – szacuje się, że rocznie w Stanach Zjednoczonych rodzi się około 300 dzieci z tą wadą1
  • Złożoność anatomiczna i różne podtypy wady
  • Podobieństwo w obrazowaniu do innych wad conotruncalnych
  • Potrzeba sekwencyjnego badania wielu płaszczyzn skanowania i procesu mentalnej rekonstrukcji ich przestrzennych relacji

Nowoczesne technologie obrazowania, takie jak wielopłaszczyznowe obrazowanie 3D i 4D, znacząco poprawiły dokładność diagnostyczną prenatalną do ponad 90%.12

Klasyfikacja w diagnostyce

W procesie diagnostycznym ważne jest określenie typu pniowca tętniczego, który opisuje anatomię tętnic płucnych lewej i prawej, odprowadzających krew do płuc.1 Dokładne określenie typu wady ma kluczowe znaczenie dla planowania leczenia chirurgicznego.

Europejskie Towarzystwo Kardiologiczne (ESC) wskazuje, że przezklatkowa echokardiografia jest metodą obrazowania z wyboru zarówno w diagnostyce pniowca tętniczego, jak i w ocenie przedoperacyjnej tego schorzenia.1 Echokardiografia z analizą przepływu w przekroju poprzecznym i metodą Dopplera jest zazwyczaj wystarczająca do potwierdzenia rozpoznania pniowca tętniczego i pełnej charakterystyki różnych cech anatomicznych u większości pacjentów.

Znaczenie wczesnej diagnostyki dla rokowania

Wczesna i dokładna diagnostyka pniowca tętniczego ma kluczowe znaczenie dla rokowania pacjenta:12

  • Bez leczenia chirurgicznego około 70-85% niemowląt z pniowcem tętniczym umiera w pierwszym roku życia, głównie z powodu powikłań, takich jak zastoinowa niewydolność serca i choroba naczyniowa płuc.
  • Zabieg chirurgiczny powinien być wykonany w ciągu pierwszych tygodni życia, aby zapobiec uszkodzeniu płuc.
  • Wskaźnik przeżycia po operacji pniowca tętniczego wynosi 80-97%, według najnowszych badań.

U dzieci starszych leczenie chirurgiczne może nie być możliwe, dlatego tak ważne jest jak najszybsze zdiagnozowanie tej wady.1

Opieka nad pacjentem z pniowcem tętniczym wymaga regularnych wizyt kontrolnych u kardiologa dziecięcego przez całe życie, co podkreśla znaczenie wczesnej i precyzyjnej diagnostyki dla długoterminowego zarządzania chorobą.12

Kolejne rozdziały

Zapraszamy do dalszego czytania naszego leksykonu.

Wybierz kolejny rozdział z menu poniżej, aby otworzyć nową podstronę kompedium wiedzy i uzyskać szczegółowe informację o leku, substancji lub chorobie.

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

Materiały źródłowe

  • #1 Truncus Arteriosus – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK534774/
    Truncus arteriosus is an uncommon cyanotic congenital cardiac defect characterized by a single large arterial trunk with a semilunar valve overriding a ventricular septal defect. […] This activity for healthcare professionals is designed to enhance learners’ competence in evaluating and managing truncus arteriosus. After participation, learners gain proficiency in recognizing the signs and symptoms of truncus arteriosus and determining individualized diagnostic and treatment approaches for patients with this condition. […] Select the appropriate diagnostic tests for a patient with possible truncus arteriosus. […] Prenatal diagnosis by fetal echocardiography is usually performed at 22 weeks of gestation on average and as early as 13 weeks of gestation. […] Postnatal diagnosis is ascertained with a transthoracic echocardiogram showing the lesion’s precise anatomy and type. […] Cardiac catheterization is mainly reserved for interventions, such as balloon angioplasty or stenting to dilate narrowed pulmonary arteries between surgical procedures. […] New technological advances have improved the rate of diagnosing truncus arteriosus prenatally to greater than 90%.
  • #1 About Truncus Arteriosus | Congenital Heart Defects (CHDs) | CDC
    https://www.cdc.gov/heart-defects/about/truncus-arteriosus.html
    Truncus arteriosus may be diagnosed during pregnancy or soon after the baby is born. […] During pregnancy, screening tests (prenatal tests) check for birth defects and other conditions. An ultrasound, a tool that creates pictures of the baby, may detect truncus arteriosus. If a healthcare provider suspects truncus arteriosus, they can request a fetal echocardiogram to confirm the diagnosis. A fetal echocardiogram is a more detailed ultrasound of the baby’s heart. This test can show problems with the structure of the heart. The test can show a single large vessel coming from the heart, and how the heart is working with this defect. […] If a healthcare provider suspects a baby might have truncus arteriosus, they can request an echocardiogram to confirm the diagnosis. An echocardiogram is an ultrasound of the heart. This test can show problems with the structure of the heart. It can show the single large vessel coming from the heart or misshapen truncal valve. It can also show how the heart is working (or not) with this defect. This defect could be the blood leaking back into the heart or the blood moving through a hole between the ventricles. […] Truncus arteriosus can also be detected with newborn pulse oximetry screening. Newborn screening using pulse oximetry can identify some infants with truncus arteriosus before they show any symptoms.
  • #1 Truncus arteriosus from prenatal diagnosis to clinical outcome: a single-centre experience | Cardiology in the Young | Cambridge Core
    https://www.cambridge.org/core/journals/cardiology-in-the-young/article/truncus-arteriosus-from-prenatal-diagnosis-to-clinical-outcome-a-singlecentre-experience/1F4D13CB5F79F97BE656A5843F252722
    The aim of this study was to review our institutions experience with truncus arteriosus from prenatal diagnosis to clinical outcome. […] Truncus arteriosus antenatal echocardiographic diagnostic accuracy within our institution was 92.3%. […] This study demonstrates good prenatal diagnostic accuracy of truncus arteriosus. […] There was no mortality and favourable clinical outcomes at mid-term follow-up, with little interventions on the right ventricle-to-pulmonary artery connection and no right ventricle deterioration. […] The clinical outcomes of both antenatally and postnatally diagnosed live-born truncus arteriosus patients were good in our cohort. […] There was no early or late mortality in our cohort. […] At latest follow-up, all patients showed good functional capacity (class I or II of the NYHA and modified Ross Heart Failure Classification).
  • #1 Prenatal diagnosis of truncus arteriosus using multiplanar display in 4D ultrasonography
    https://pmc.ncbi.nlm.nih.gov/articles/PMC3437769/
    Prenatal diagnosis of truncus arteriosus with fetal echocardiography has been reported as early as the first trimester (using high resolution transvaginal ultrasound). […] However, most cases are diagnosed between 20 and 25 weeks. […] Visualization of a single arterial vessel overriding a VSD (rather than a distinct aorta and pulmonary artery) during examination of the outflow tracts, is a common finding of three cardiac defects: truncus arteriosus, tetralogy of Fallot and pulmonary atresia with VSD. […] Thus, differentiating truncus arteriosus from these two other congenital heart defects relies on the sonographic demonstration that the main pulmonary artery, or at least one of its branches, arise from the single arterial trunk. […] Because truncus arteriosus is a complex conotruncal anomaly and has multiple subtypes, the prenatal diagnosis requires sequential examination of multiple scanning planes and a process of mental reconstruction of their spatial relationships, which demands expertise and knowledge in fetal echocardiography.
  • #1 Prenatal diagnosis of truncus arteriosus using multiplanar display in 4D ultrasonography
    https://pmc.ncbi.nlm.nih.gov/articles/PMC3437769/
    Such a process, however, can be facilitated by novel display modalities in 3D and 4D ultrasound, including multiplanar display, tomographic ultrasound imaging (TUI) and power Doppler rendering. […] The advantages of 3D and 4D over 2D sonography in obstetrics have been described. […] By reslicing volume datasets of the fetal heart (which can only be obtained with 3D and 4D sonography), sonographic planes can be easily obtained. […] Multiplanar imaging in 3D and 4D ultrasonography is a display modality that allows for the simultaneous visualization of three orthogonal anatomic planes (transverse, sagittal and coronal). […] It has also been demonstrated that multiplanar display may help in the evaluation of abnormal vascular connections. […] Prenatal assessment of these risk factors may assist in a more individualized parental counseling.
  • #1 Truncus Arteriosus Differential Diagnoses
    https://emedicine.medscape.com/article/892489-differential
    It is important for clinicians to properly diagnose truncus arteriosus. […] Obtain routine laboratory and imaging studies (to include a full complement of echocardiographic views) in the neonate with truncus arteriosus to aid in determining therapeutic strategy and assist diagnosis. […] For postnatal diagnosis, truncus arteriosus is suggested by the history and physical findings, along with abnormal results on the critical congenital heart disease screening test in the first few days after birth, showing preductal and postductal oxygen saturation less than 95% with mild or unnoticeable cyanosis. […] These infants exhibit poor feeding, lethargy, tachypnea, costal-sternal retractions, grunting, nasal flaring, tachycardia, or hepatomegaly.
  • #1 Partners in Care | Truncus Arteriosus treatment at the Texas Center…
    https://www.partnersincare.health/conditions/truncus-arteriosus
    Truncus arteriosus is often diagnosed during prenatal ultrasounds before a baby is born. […] During physical examinations, your child’s doctor listens to your child’s heart and lungs and may detect a heart murmur, which are extra sounds heard throughout the cardiac cycle due to increased blood flow. […] If your pediatrician suspects increased blood flow, a recommendation to see a pediatric cardiologist may be made. […] Your doctor may also refer you to a pediatric cardiologist if your child is breathing fast or has lips or skin that appear blue in color. […] Once the diagnosis of truncus arteriosus has been made, chromosomal analysis should be performed to determine if the baby also has a genetic condition or syndrome. […] Tests performed when diagnosing truncus arteriosus may include:
  • #1 Truncus Arteriosus (TA)
    https://livinghealthy.hawaiipacifichealth.org/Library/News/Newsletters/Cancer/90,P01826
    How is truncus arteriosus diagnosed? A prenatal ultrasound may show truncus arteriosus. Your child’s healthcare provider will check your child after birth. They may find signs like a pounding heart and weak pulse. They may hear an abnormal heart sound (heart murmur) when listening to your baby’s chest with a stethoscope. If they do, you may have been referred to a pediatric cardiologist for a diagnosis. This is a healthcare provider with special training to diagnose and treat heart problems in babies and children. […] These specialists will also examine your baby. They will listen to their heart and lungs with a stethoscope. Your baby may have other tests, including: […] Pulse oximetry. A probe placed on your child’s finger or toe can measure the oxygen level. Low levels may mean a diagnosis of truncus arteriosus.
  • #1 Truncus Arteriosus Workup: Laboratory Studies, Electrocardiography, Radiography
    https://emedicine.medscape.com/article/892489-workup
    Routine laboratory studies in the neonate with truncus arteriosus generally aid in determining therapeutic strategy rather than diagnosis. […] An important exception in some cases is an arterial blood gas measurement, which helps to evaluate the degree of acidosis on presentation and may aid in differentiating cardiac disease from primary pulmonary pathology when performed before and after administration of 100% inspired oxygen (hyperoxia test). […] The European Society of Cardiology (ESC) indicates transthoracic echocardiography is the imaging modality of choice to diagnose truncus arteriosus as well as for the preoperative assessment of this condition. […] Echocardiography with cross-sectional and Doppler flow analysis is sufficient to confirm the diagnosis of truncus arteriosus and fully characterize the various anatomic features in most patients.
  • #1 Persistent Truncus Arteriosus – Pediatrics – Merck Manual Professional Edition
    https://www.merckmanuals.com/professional/pediatrics/congenital-cardiovascular-anomalies/persistent-truncus-arteriosus
    Persistent truncus arteriosus occurs when, during fetal development, the primitive truncus does not divide into the pulmonary artery and aorta, resulting in a single, large, arterial trunk that overlies a large, malalignment type ventricular septal defect. […] Diagnosis is by echocardiography, MRI, CT angiography, or cardiac catheterization. […] Diagnosis is suspected clinically, supported by chest x-ray and ECG, and established by 2-dimensional echocardiography with color flow and Doppler studies. Cardiac catheterization is occasionally necessary to delineate associated anomalies before surgery, but cardiac MRI or CT angiography may supplant the need for catheterization. […] Chest x-ray shows varying degrees of cardiomegaly with increased pulmonary vascular markings, right aortic arch (in about 30%), and relatively high position of pulmonary arteries. […] ECG commonly shows combined ventricular hypertrophy. Substantial pulmonary overcirculation may produce evidence of left atrial enlargement.
  • #1 Truncus arteriosus – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/truncus-arteriosus/diagnosis-treatment/drc-20364277
    Truncus arteriosus is usually diagnosed soon after a child is born. The baby may look blue or gray and have trouble breathing. […] If a baby has truncus arteriosus, the healthcare professional may hear fluid in the lungs during this exam. […] Tests to diagnose truncus arteriosus include: […] An echocardiogram uses sound waves to create pictures of the beating heart. This is the main test to diagnose truncus arteriosus. It shows blood flow through the heart and heart valves. In a baby with truncus arteriosus, the test shows one single large vessel leading from the heart. There’s typically a hole in the wall between the lower heart chambers.
  • #1 Truncus Arteriosus (TA)
    https://livinghealthy.hawaiipacifichealth.org/Library/News/Newsletters/Cancer/90,P01826
    Chest X-ray. This shows the overall size and shape of the heart and lungs. It may show signs typical of truncus arteriosus. […] Electrocardiogram (ECG). An ECG records the electrical activity of the heart. It shows abnormal rhythms, and finds heart muscle stress. […] Echocardiogram (echo). An echo uses sound waves (ultrasound) to make a moving picture of the heart and heart valves. An echo shows the truncus arteriosus. […] Cardiac catheterization. This gives very detailed information about the structures inside the heart. Your baby will be given medicine to relax (sedation). The healthcare provider will put a thin, flexible tube (catheter) into a blood vessel in the groin. It is then moved to the heart. They will take measurements of blood pressure and oxygen in the heart chambers. The pulmonary artery and aorta will also be checked. Contrast dye is also injected to let the provider more clearly see the structures inside the heart.
  • #1 Truncus Arteriosus Workup: Laboratory Studies, Electrocardiography, Radiography
    https://emedicine.medscape.com/article/892489-workup
    Increasingly, diagnosis of truncus arteriosus and other complex heart defects is made by prenatal echocardiography. […] Prenatal echocardiography is generally accurate and sensitive for the diagnosis of truncus arteriosus, although the precise diagnosis may be difficult to distinguish from similar anomalies, such as tetralogy of Fallot or double-outlet right ventricle with pulmonary atresia, or aortic atresia with a ventricular septal defect. […] More detailed anatomic and cardiac function information can be obtained with cardiovascular computed tomography (CCT) scanning and cardiovascular magnetic resonance imaging (CMRI) as needed. […] Cardiac catheterization is important in decision-making regarding the time and type of surgery to be performed (palliative vs corrective).
  • #1 Truncus Arteriosus | Pediatric Echocardiography
    https://pedecho.org/library/fetal/fetal-truncus
    Truncus arteriosus (TA) is a rare form of congenital heart disease occurring in 1-3% of patients with congenital heart disease. Truncus arteriosus has an estimated birth incidence of approximately 7 to 21 per 100,000 live births. […] Persistent truncus arteriosus results from incomplete or failed septation. It is characterized by a single great artery arising from the heart with a single semilunar valve that overrides the right and left ventricles. […] A ventricular septal defect (VSD) is most commonly associated with TA, as well as anomalies with truncal valve, aortic arch and coronary arteries. […] Approximately 30% of patients with TA have a right aortic arch and 10-12% have aortic arch hypoplasia or an interrupted aortic arch. […] Approximately 50% of newborns with truncus arteriosus have associated genetic disorder, most commonly the chromosome 22q11.2 deletion syndrome (~20% of the cases).
  • #1 Truncus Arteriosus | Children’s Hospital of Philadelphia
    https://www.chop.edu/conditions-diseases/truncus-arteriosus
    Usually truncus arteriosus is diagnosed before the baby leaves the hospital if the doctor hears a murmur or sees a blue tint to the lips or skin. Or, a primary care pediatrician might detect the symptoms of truncus arteriosus during a checkup or a parent might notice symptoms and bring the baby to a doctor or hospital. […] Diagnosis of truncus arteriosus may require some or all of these tests: […] Often, truncus arteriosus is diagnosed on a fetal ultrasound and/or echocardiogram. The Fetal Heart Program at CHOP specializes in the detection, evaluation and management of congenital heart defects like truncus arteriosus prior to a baby’s birth, and can prepare a plan for delivery and care immediately after birth. […] A number of children with truncus arteriosus also have a genetic syndrome called 22q11 deletion syndrome (also known as DiGeorge, velocardialfacial or conotruncal anomaly face syndromes). Genetic testing (a blood test) for this syndrome may be part of our evaluation.
  • #1 Truncus Arteriosus | Riley Children’s Health
    https://www.rileychildrens.org/health-info/truncus-arteriosus
    The Centers for Disease Control and Prevention estimate that 300 babies are born each year in the United States with a rare, congenital heart defect known as truncus arteriosus. […] Truncus arteriosus can be diagnosed during pregnancy by a routine prenatal ultrasound or fetal echocardiogram. […] After birth, a heart murmur may alert doctors to a potential problem. However, because not all heart murmurs are serious, additional diagnostic testing through chest x-ray, EKG and echocardiogram are required. […] Truncus arteriosus can be diagnosed prenatally by a routine prenatal ultrasound or fetal echocardiogram.
  • #1 Truncus Arteriosus: Symptoms & Treatment
    https://my.clevelandclinic.org/health/diseases/14785-truncus-arteriosus
    Babies with truncus arteriosus need heart surgery within the first weeks of life. The most common procedure is called a Rastelli repair, which creates two separate paths for blood to leave your babys heart. […] Your childs provider may say your child has a specific type of truncus arteriosus. These types describe the anatomy of your childs left and right pulmonary arteries, which carry blood to their lungs. […] The survival rate for truncus arteriosus surgery is 80% to 97%, according to the latest research. […] Your childs care team can tell you more about the factors that might affect your childs life expectancy.
  • #1 Truncus arteriosus | Radiology Reference Article | Radiopaedia.org
    https://radiopaedia.org/articles/truncus-arteriosus?lang=us
    Truncus arteriosus is a cyanotic congenital heart anomaly in which a single trunk supplies both the pulmonary and systemic circulation, instead of a separate aorta and a pulmonary trunk. It accounts for up to 2% of congenital cardiac anomalies and is almost always associated with a ventricular septal defect (VSD) to allow circulatory flow circuit completion. […] Patients may present with signs and symptoms of cyanosis or congestive heart failure. […] Chest radiographs often show moderate cardiomegaly with pulmonary plethora (mainly as a result of collateral formation) and widened mediastinum. […] However, after birth, when separate pulmonary and systemic circulations are required, this congenital heart defect becomes a critical issue. Without prompt surgical correction, approximately 70-85% of affected infants die within the first year, primarily due to complications such as congestive heart failure and pulmonary vascular disease.
  • #1 Truncus Arteriosus | Children’s Hospital Colorado
    https://www.childrenscolorado.org/conditions-and-advice/conditions-and-symptoms/conditions/truncus-arteriosus/
    Truncus arteriosus is a rare type of congenital birth defect in which the two major arteries of the heart (the aorta and the pulmonary artery) fail to separate during development. Instead, there is only one large vessel coming from the heart. […] An echocardiogram (ECHO) is the best test to diagnose truncus arteriosus. This test will give cardiologists at Children’s Colorado a moving picture of your child’s heart in action. […] If your child has been diagnosed with truncus arteriosus, he or she will need heart surgery to repair it. […] Surgery is recommended within the first few weeks of life if the condition is detected immediately after birth. During the procedure, a pediatric cardiac surgeon will close the holes within the heart and separate the pulmonary and truncal arteries. […] In older children, surgical therapy may not be possible, which is why it is important to diagnose this condition as soon as possible.
  • #1 Truncus Arteriosus | American Heart Association
    https://www.heart.org/en/health-topics/congenital-heart-defects/about-congenital-heart-defects/truncus-arteriosus
    Truncus arteriosus occurs when the two large arteries carrying blood away from the heart don’t form properly and one large artery is present instead. This artery (the truncus) sits over a large opening or hole in the wall between the two pumping chambers (ventricular septal defect). With only one artery, there is no specific path to the lungs for oxygen before returning to the heart to deliver oxygen to the body. […] Surgery is needed to close the ventricular septal defect (VSD) and separate blood flow to the body from blood flow to the lungs. This is usually done early in infancy to prevent high blood pressure from damaging the lung arteries. […] Children with truncus arteriosus need regular follow-up with a pediatric cardiologist and they may need to take medicine after surgery. Your child’s cardiologist will evaluate with a variety of tests including electrocardiograms and echocardiograms to determine when another procedure such as cardiac catheterization may be needed.
  • #2 Truncus Arteriosus | American Heart Association
    https://www.heart.org/en/health-topics/congenital-heart-defects/about-congenital-heart-defects/truncus-arteriosus
    Truncus arteriosus occurs when the two large arteries carrying blood away from the heart don’t form properly and one large artery is present instead. This artery (the truncus) sits over a large opening or hole in the wall between the two pumping chambers (ventricular septal defect). With only one artery, there is no specific path to the lungs for oxygen before returning to the heart to deliver oxygen to the body. […] Surgery is needed to close the ventricular septal defect (VSD) and separate blood flow to the body from blood flow to the lungs. This is usually done early in infancy to prevent high blood pressure from damaging the lung arteries. […] Children with truncus arteriosus need regular follow-up with a pediatric cardiologist and they may need to take medicine after surgery. Your child’s cardiologist will evaluate with a variety of tests including electrocardiograms and echocardiograms to determine when another procedure such as cardiac catheterization may be needed.
  • #2 Truncus Arteriosus | Riley Children’s Health
    https://www.rileychildrens.org/health-info/truncus-arteriosus
    The Centers for Disease Control and Prevention estimate that 300 babies are born each year in the United States with a rare, congenital heart defect known as truncus arteriosus. […] Truncus arteriosus can be diagnosed during pregnancy by a routine prenatal ultrasound or fetal echocardiogram. […] After birth, a heart murmur may alert doctors to a potential problem. However, because not all heart murmurs are serious, additional diagnostic testing through chest x-ray, EKG and echocardiogram are required. […] Truncus arteriosus can be diagnosed prenatally by a routine prenatal ultrasound or fetal echocardiogram.
  • #2 Truncus Arteriosus – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK534774/
    Truncus arteriosus is an uncommon cyanotic congenital cardiac defect characterized by a single large arterial trunk with a semilunar valve overriding a ventricular septal defect. […] This activity for healthcare professionals is designed to enhance learners’ competence in evaluating and managing truncus arteriosus. After participation, learners gain proficiency in recognizing the signs and symptoms of truncus arteriosus and determining individualized diagnostic and treatment approaches for patients with this condition. […] Select the appropriate diagnostic tests for a patient with possible truncus arteriosus. […] Prenatal diagnosis by fetal echocardiography is usually performed at 22 weeks of gestation on average and as early as 13 weeks of gestation. […] Postnatal diagnosis is ascertained with a transthoracic echocardiogram showing the lesion’s precise anatomy and type. […] Cardiac catheterization is mainly reserved for interventions, such as balloon angioplasty or stenting to dilate narrowed pulmonary arteries between surgical procedures. […] New technological advances have improved the rate of diagnosing truncus arteriosus prenatally to greater than 90%.
  • #2 Prenatal diagnosis of truncus arteriosus using multiplanar display in 4D ultrasonography
    https://pmc.ncbi.nlm.nih.gov/articles/PMC3437769/
    Such a process, however, can be facilitated by novel display modalities in 3D and 4D ultrasound, including multiplanar display, tomographic ultrasound imaging (TUI) and power Doppler rendering. […] The advantages of 3D and 4D over 2D sonography in obstetrics have been described. […] By reslicing volume datasets of the fetal heart (which can only be obtained with 3D and 4D sonography), sonographic planes can be easily obtained. […] Multiplanar imaging in 3D and 4D ultrasonography is a display modality that allows for the simultaneous visualization of three orthogonal anatomic planes (transverse, sagittal and coronal). […] It has also been demonstrated that multiplanar display may help in the evaluation of abnormal vascular connections. […] Prenatal assessment of these risk factors may assist in a more individualized parental counseling.
  • #2 📃 Truncus arteriosus
    https://thefetus.net/content/truncus-arteriosus-1
    Persistent truncus arteriosus is a rare congenital cardiac malformation in which there is only a single common artery arising from the heart. This single artery supplies the systemic, pulmonary, and coronary circulations. […] Prenatal diagnosis of truncus arteriosus can be challenging, and only a few cases have been reported. […] A diagnosis of truncus arteriosus versus tetralogy of Fallot with pulmonary atresia was made. […] The diagnosis is made by observing a single common arterial outflow tract overriding the ventricular septum. This finding, however, may be indistinguishable from that which is seen in cases of tetralogy of Fallot or pulmonary atresia with a ventricular septal defect. […] Demonstration of the pulmonary arteries originating from the arterial trunk or a truncal valve with 4 or more leaflets may also help differentiate truncus arteriosus from other anomalies. […] The treatment of choice for truncus arteriosus is early surgical repair. […] When prenatal diagnosis of truncus arteriosus is made before viability, termination of pregnancy can be offered.
  • #2 Truncus arteriosus – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/truncus-arteriosus/diagnosis-treatment/drc-20364277
    Truncus arteriosus is usually diagnosed soon after a child is born. The baby may look blue or gray and have trouble breathing. […] If a baby has truncus arteriosus, the healthcare professional may hear fluid in the lungs during this exam. […] Tests to diagnose truncus arteriosus include: […] An echocardiogram uses sound waves to create pictures of the beating heart. This is the main test to diagnose truncus arteriosus. It shows blood flow through the heart and heart valves. In a baby with truncus arteriosus, the test shows one single large vessel leading from the heart. There’s typically a hole in the wall between the lower heart chambers.
  • #2 Truncus Arteriosus (TA) | University Hospitals
    https://www.uhhospitals.org/health-information/health-and-wellness-library/article/Diseases-and-Conditions—Pediatrics/truncus-arteriosus
    A prenatal ultrasound may show truncus arteriosus. […] Your child’s healthcare provider will check your child after birth. They may find signs like a pounding heart and weak pulse. […] They may hear an abnormal heart sound (heart murmur) when listening to your baby’s chest with a stethoscope. […] If they do, you may have been referred to a pediatric cardiologist for a diagnosis. […] This is a healthcare provider with special training to diagnose and treat heart problems in babies and children. […] These specialists will also examine your baby. […] Your baby may have other tests, including: […] Pulse oximetry. A probe placed on your child’s finger or toe can measure the oxygen level. Low levels may mean a diagnosis of truncus arteriosus. […] Chest X-ray. This shows the overall size and shape of the heart and lungs. It may show signs typical of truncus arteriosus.
  • #2 Truncus Arteriosus (TA)
    https://livinghealthy.hawaiipacifichealth.org/Library/News/Newsletters/Cancer/90,P01826
    Chest X-ray. This shows the overall size and shape of the heart and lungs. It may show signs typical of truncus arteriosus. […] Electrocardiogram (ECG). An ECG records the electrical activity of the heart. It shows abnormal rhythms, and finds heart muscle stress. […] Echocardiogram (echo). An echo uses sound waves (ultrasound) to make a moving picture of the heart and heart valves. An echo shows the truncus arteriosus. […] Cardiac catheterization. This gives very detailed information about the structures inside the heart. Your baby will be given medicine to relax (sedation). The healthcare provider will put a thin, flexible tube (catheter) into a blood vessel in the groin. It is then moved to the heart. They will take measurements of blood pressure and oxygen in the heart chambers. The pulmonary artery and aorta will also be checked. Contrast dye is also injected to let the provider more clearly see the structures inside the heart.
  • #2 Truncus Arteriosus > Fact Sheets > Yale Medicine
    https://www.yalemedicine.org/conditions/truncus-arteriosus
    Truncus arteriosus is a congenital heart defect that prevents the heart from sending enough oxygen-rich blood throughout the body. This occurs because blood vessels within a fetus’s heart did not develop normally during pregnancy. The condition causes heart failure, and, without treatment, babies may die within the first year of life. […] Most commonly, congenital heart anomalies such as truncus arteriosus may be detected during pregnancy via a routine ultrasound in the second trimester. When doctors suspect a heart abnormality, including truncus arteriosus, they may order a fetal echocardiogram, an ultrasound exam that shows the structure and function of a fetus’s heart. A fetal echocardiogram can be used to diagnose truncus arteriosus starting at 18 weeks of pregnancy. […] Doctors may offer the following diagnostic tests to check for truncus arteriosus: Pulse oximetry. Doctors use this screening test to see if a baby’s blood-oxygen levels are normal or low. They briefly attach a device to the baby’s hand or foot to measure the amount of oxygen in the blood. Patients with truncus arteriosus typically have low blood-oxygen levels.
  • #2 Truncus Arteriosus (TA) – Stanford Medicine Children’s Health
    https://www.stanfordchildrens.org/en/topic/default?id=truncus-arteriosus-ta-90-P01826
    Electrocardiogram (ECG). An ECG records the electrical activity of the heart. It shows abnormal rhythms, and finds heart muscle stress. […] Echocardiogram (echo). An echo uses sound waves (ultrasound) to make a moving picture of the heart and heart valves. An echo shows the truncus arteriosus. […] Cardiac catheterization. A heart cath gives very detailed information about the structures inside the heart. Your baby will be given medicine to relax (sedation). The healthcare provider will put a thin, flexible tube (catheter) into a blood vessel in the groin and move it to the heart. He or she will take measurements of blood pressure and oxygen in the heart chambers. The pulmonary artery and aorta will also be checked. Contrast dye is also injected to let the provider more clearly see the structures inside the heart.
  • #2 Truncus Arteriosus Workup: Laboratory Studies, Electrocardiography, Radiography
    https://emedicine.medscape.com/article/892489-workup
    Routine laboratory studies in the neonate with truncus arteriosus generally aid in determining therapeutic strategy rather than diagnosis. […] An important exception in some cases is an arterial blood gas measurement, which helps to evaluate the degree of acidosis on presentation and may aid in differentiating cardiac disease from primary pulmonary pathology when performed before and after administration of 100% inspired oxygen (hyperoxia test). […] The European Society of Cardiology (ESC) indicates transthoracic echocardiography is the imaging modality of choice to diagnose truncus arteriosus as well as for the preoperative assessment of this condition. […] Echocardiography with cross-sectional and Doppler flow analysis is sufficient to confirm the diagnosis of truncus arteriosus and fully characterize the various anatomic features in most patients.
  • #2 Truncus arteriosus | Radiology Reference Article | Radiopaedia.org
    https://radiopaedia.org/articles/truncus-arteriosus?lang=us
    Truncus arteriosus is a cyanotic congenital heart anomaly in which a single trunk supplies both the pulmonary and systemic circulation, instead of a separate aorta and a pulmonary trunk. It accounts for up to 2% of congenital cardiac anomalies and is almost always associated with a ventricular septal defect (VSD) to allow circulatory flow circuit completion. […] Patients may present with signs and symptoms of cyanosis or congestive heart failure. […] Chest radiographs often show moderate cardiomegaly with pulmonary plethora (mainly as a result of collateral formation) and widened mediastinum. […] However, after birth, when separate pulmonary and systemic circulations are required, this congenital heart defect becomes a critical issue. Without prompt surgical correction, approximately 70-85% of affected infants die within the first year, primarily due to complications such as congestive heart failure and pulmonary vascular disease.
  • #2 Partners in Care | Truncus Arteriosus treatment at the Texas Center…
    https://www.partnersincare.health/conditions/truncus-arteriosus
    Cardiac Catheterization: During cardiac catheterization, a small catheter (thin tube) is inserted into a larger blood vessel, typically in the groin, and guided to the heart where blood pressure and oxygen measurements can be taken in the aorta and pulmonary artery as well as the four chambers of the heart. […] A dye can also be injected through the tube to make the heart’s structure more visible on an X-ray. […] Cardiac MRI or CT Scan: A cardiac MRI or CT scan is used to take more detailed images of the heart to help define the anatomy and detect anomalies. […] Chest X-Ray: A chest X-ray produces an image of the tissue and bones in the heart and lungs and helps your provider assess the shape, size, and structure of the heart and lungs as well as the aeration of or any congestion in the lungs.
  • #2 Truncus arteriosus: Diagnosis with dual-source computed tomography angiography and low radiation dose
    https://www.wjgnet.com/1949-8470/full/v6/i11/886.htm
    Echocardiography is a basic, rapid, non-radiating and non-invasive method for the diagnosis of TA. […] CT provides excellent morphological evaluation of TA. 3D CT angiography provides greater information about anomalous anatomic detail, abnormal origin, branching of arterial trunk, cardiac and extra cardiac abnormalities such as aortic arch, coronary arteries abnormalities, left superior vena cava, and aberrant subclavian artery. […] In conclusion, DSCT is a useful imaging method for diagnosis, surgical planning, and postoperative evaluation of congenital heart abnormality such as TA, especially in infants and in children.
  • #2 Truncus arteriosus | Radiology Reference Article | Radiopaedia.org
    https://radiopaedia.org/articles/truncus-arteriosus?lang=us
    Allows direct visualization of a single trunk. Outflow tract views are the most useful. Color Doppler may additionally show flow across both ways through an associated VSD. […] Allows direct visualization of abnormal anatomy. […] Allows direct display of anomalous anatomy. SSFP cine sequences can offer an additional functional assessment.
  • #2 Truncus Arteriosus Diagnosis & Treatments | Mount Sinai – New York
    https://www.mountsinai.org/locations/childrens-heart/conditions/truncus-arteriosus
    In addition, if we diagnose truncus arteriosus for your baby during pregnancy, as your fetal cardiologist along with your obstetrician, we will offer you the option of genetic testing. […] We specialize in detecting, evaluating, and managing congenital heart defects like truncus arteriosus. We offer the most accurate diagnostics and outstanding treatment outcomes.
  • #2 Truncus Arteriosus | Children’s Hospital Colorado
    https://www.childrenscolorado.org/conditions-and-advice/conditions-and-symptoms/conditions/truncus-arteriosus/
    Truncus arteriosus is a rare type of congenital birth defect in which the two major arteries of the heart (the aorta and the pulmonary artery) fail to separate during development. Instead, there is only one large vessel coming from the heart. […] An echocardiogram (ECHO) is the best test to diagnose truncus arteriosus. This test will give cardiologists at Children’s Colorado a moving picture of your child’s heart in action. […] If your child has been diagnosed with truncus arteriosus, he or she will need heart surgery to repair it. […] Surgery is recommended within the first few weeks of life if the condition is detected immediately after birth. During the procedure, a pediatric cardiac surgeon will close the holes within the heart and separate the pulmonary and truncal arteries. […] In older children, surgical therapy may not be possible, which is why it is important to diagnose this condition as soon as possible.
  • #2 Truncus Arteriosus | American Heart Association
    https://www.heart.org/en/health-topics/congenital-heart-defects/about-congenital-heart-defects/truncus-arteriosus
    Patients with truncus arteriosus need regular follow-up with a cardiologist with special training in adult congenital heart disease. You may need to take medicine after your operation to help your heart pump better. […] Your cardiologist will monitor you with a variety of tests. These include electrocardiograms, Holter monitors, exercise stress tests and echocardiograms to determine when another procedure such as cardiac catheterization may be needed.
  • #3 Truncus Arteriosus: Diagnosis & Treatment | NewYork-Presbyterian
    https://www.nyp.org/pediatrics/heart/truncus-arteriosus/treatment
    How is Truncus Arteriosus Diagnosed? Diagnosis […] Soon after a baby is born, a pediatrician performs an examination to detect any irregularities. This may include listening to the babys heart for irregular heartbeats, abnormal sounds caused by a heart murmur, and listening to the lungs to detect any fluid. After examining the baby, your doctor may use a fetal echocardiogram, an ultrasound that produces a detailed image of the babys heart, to confirm a diagnosis. To provide a full assessment of the heart, a pediatric cardiologist along with a pediatric cardiac surgeon may conduct further testing to evaluate for signs of truncus arteriosus. Tests may include: […] Echocardiogram This test reveals the structures and functions of the heart. Sound waves are used to produce images that can be viewed on a monitor. This test can show if there is a single large vessel leading from the heart, a hole in the wall dividing the left and right ventricle, or abnormalities in the valve separating the large vessel and the ventricles. This test can also measure the amount of blood flowing to the babys lungs, and if there is a risk for pulmonary hypertension (high blood pressure in the lungs). […] X-ray An X-ray uses low levels of radiation to produce images of internal organs and structures. This test can show if the heart is enlarged or if the lungs are filled with excess fluid.
  • #3 Truncus Arteriosus > Fact Sheets > Yale Medicine
    https://www.yalemedicine.org/conditions/truncus-arteriosus
    Echocardiogram (or echo). This ultrasound exam of the heart uses a transducer (or wand) to pick up sound waves from the chest and torso to create images of the heart. When a patient has truncus arteriosus, the echocardiogram shows the presence of a common trunk rather than a main pulmonary artery and an aorta. The images also confirm that the patient has a VSD and a single truncal valve and that blood flows through the heart in an abnormal pattern.