Choroba serca wrodzona
Rokowania, prognozy i postęp choroby

Wrodzona choroba serca (CHD) pozostaje główną przyczyną śmiertelności niemowląt z wadami wrodzonymi, a rokowanie zależy od typu i ciężkości wady oraz obecności anomalii pozasercowych (ECA). Prenatalna diagnoza, w tym wykrycie patogennych wariantów liczby kopii (CNV), ma kluczowe znaczenie dla prognozy i decyzji klinicznych, w tym dotyczących terminacji ciąży. U dorosłych z CHD (ACHD) zaawansowana niewydolność serca dotyka 20-50% pacjentów i jest główną przyczyną zgonów. Parametry prognostyczne obejmują funkcję skurczową komory (frakcja wyrzutowa metodą Simpsona), wymiary lewego przedsionka, szczytowe VO2 z testu wysiłkowego CPET, poziomy peptydów natriuretycznych oraz hipoalbuminemię, która wiąże się z trzykrotnie zwiększonym ryzykiem zgonu (HR 2,29-3,66, p<0,001). Diagnostyka obrazowa (TTE, CCT, CMR) oraz badania genetyczne prenatalne są niezbędne do oceny rokowania i planowania leczenia.

  1. Rokowanie w chorobie serca wrodzonej (Prognosis in Congenital Heart Disease)
    1. Czynniki wpływające na rokowanie krótkoterminowe
    2. Przewidywanie ryzyka niewydolności serca
    3. Znaczenie badań genetycznych w prognozowaniu
    4. Modele predykcyjne w CHD
    5. Rola badań obrazowych w prognozowaniu
    6. Zastosowanie sztucznej inteligencji w prognozowaniu CHD
    7. Czynniki operacyjne i opieka intensywna
  2. Podsumowanie rokowania w CHD
    1. Kolejne rozdziały

Rokowanie w chorobie serca wrodzonej (Prognosis in Congenital Heart Disease)

Wrodzona choroba serca (CHD) stanowi główną przyczynę śmierci niemowląt z powodu wad wrodzonych. Rokowanie w tej grupie chorych zależy przede wszystkim od typu i ciężkości wady, przy czym gorsze wyniki obserwuje się, gdy współistnieją anomalie pozasercowe (ECA).12 Pomimo znacznej poprawy przeżywalności pacjentów z CHD w ostatnich dekadach, późne powikłania pozostają częste i trudne do przewidzenia.3

Czynniki wpływające na rokowanie krótkoterminowe

Rokowanie noworodków z prenatalnie zdiagnozowaną CHD zależy przede wszystkim od typu i ciężkości wady. Należy jednak zauważyć, że wyniki mogą różnić się w obrębie każdej kategorii CHD, a nawet między osobami z tym samym typem wady wrodzonej serca.4 Badania wykazały, że oprócz wysokich wskaźników ciężkości CHD, inne czynniki, takie jak prenatalne wykrycie patogennych CNV (copy number variations) i współwystępowanie potencjalnie zagrażających życiu anomalii pozasercowych, były istotnie powiązane z decyzją o terminacji ciąży.5

Badania retrospektywne wskazują, że obecność złożonej CHD o wysokiej złożoności i poważnych anomalii pozasercowych, a także wcześniactwo, były negatywnie skorelowane z przeżyciem po urodzeniu oraz przeżyciem powyżej 1 roku życia.6 Wpływ postnatalnej diagnozy genetycznej na wczesną śmiertelność postnatalną może być związany ze zwiększonym ryzykiem powikłań okołooperacyjnych, jak opisano wcześniej w przypadku zespołów genetycznych, takich jak zespół delecji 22q11, z większym występowaniem zagrażających życiu anomalii pozasercowych lub z większym prawdopodobieństwem wyboru przekierowania opieki u dzieci z zespołami genetycznymi o wysokiej chorobowości.7

Przewidywanie ryzyka niewydolności serca

W ostatnich dziesięcioleciach liczba dorosłych z wrodzoną wadą serca (ACHD) znacznie wzrosła. Coraz więcej dorosłych pacjentów z CHD prezentuje zaawansowane formy niewydolności serca (około 20-50% tej populacji), która jest główną przyczyną zgonów w populacji ACHD, a ich liczba będzie rosnąć.8 Patofizjologia niewydolności serca w ACHD, w przeciwieństwie do populacji ogólnej, jest znacznie bardziej złożona.9

Istotne biomarkery i parametry kliniczne, które mogą być wartościowe w przewidywaniu rokowania u pacjentów z ACHD obejmują:

  • Echokardiografia – podstawowym parametrem uzyskanym w TTE jest funkcja skurczowa komory (wyrażona przez frakcję wyrzutową metodą dwupłaszczyznową Simpsona), która jest dobrze ustalonym czynnikiem prognostycznym.10
  • Wymiary przedsionka lewego – autorzy stwierdzili, że normalnie wymiarowy lewy przedsionek może dokładnie wykluczyć ryzyko zgonu i niewydolności serca z wysoką wartością predykcyjną ujemną.11
  • Parametry testu wysiłkowego sercowo-płucnego (CPET) – szczytowe VO2 jest jednym z najbardziej użytecznych i silnych czynników prognostycznych ze względu na silny związek ze zwiększonym ryzykiem niewydolności serca, hospitalizacji i śmiertelności w ACHD.12
  • Peptydy natriuretyczne – seryjne badanie peptydów natriuretycznych odgrywa rolę w identyfikacji pacjentów zagrożonych niekorzystnymi zdarzeniami.13
  • Hipoalbuminemia – jest częsta u pacjentów z ACHD i wiąże się z trzykrotnie zwiększonym ryzykiem zgonu. Hipoalbuminemia była silnym predyktorem wyniku w każdej z trzech grup ciężkości diagnostycznej: HR 2,29, 95% CI 1,45 do 3,60 dla prostej ACHD; HR 3,66, 95% CI 2,21 do 6,05 dla umiarkowanej ACHD; HR 3,51, 95% CI 2,83 do 4,87 dla ACHD o dużej złożoności, p<0,001 dla wszystkich.14

Znaczenie badań genetycznych w prognozowaniu

Gdy CHD jest diagnozowana prenatalnie, syndromiczna CHD (S-CHD) jest trudna do odróżnienia od niesyndromicznej CHD (NS-CHD), ponieważ ocena cech twarzy i rozwoju jest niemożliwa lub ograniczona, a niektóre anomalie pozasercowe, takie jak coloboma, drobne wady kończyn lub rozszczep podniebienia, mogą być przeoczone.15 Dlatego prenatalne badanie genetyczne zyskuje na znaczeniu w prognozowaniu u płodów ze złożoną CHD.16

Badania wykazały, że fenotypowanie sercowe i pozasercowe za pomocą prenatalnego USG oraz szczegółowe prenatalne badanie genetyczne są kluczowe dla zapewnienia odpowiedniego doradztwa rodzicom płodów z CHD w odniesieniu do wskaźników przeżycia postnatalnego.17 Wydajność diagnostyczna badań genetycznych w dużym stopniu zależy od typu CHD, historii rodzinnej i współwystępowania anomalii pozasercowych.18

Modele predykcyjne w CHD

Rozwój modeli predykcyjnych o dobrej zdolności prognostycznej jest istotny dla identyfikacji kobiet, których potomstwo może być narażone na CHD. Badania wykazały, że klasyfikatory, które są nieinwazyjne, mogą być stosowane jako narzędzie do badań przesiewowych w celu wykrywania grup kobiet wysokiego ryzyka CHD przed i w trakcie ciąży.19

W jednym z badań, poprzednie wyniki Logit i WRF pokazały, że historia rodzinna, historia poprzednich chorób matki, choroba matki, niedobór składników odżywczych i suplementacja kwasem foliowym były ważnymi czynnikami ryzyka CHD.20 Modele te mogą być wykorzystywane do przewidywania CHD w innych obszarach, a także mogą być przydatne do indywidualnego doradztwa w zakresie ryzyka.21

Rola badań obrazowych w prognozowaniu

Badania obrazowe odgrywają kluczową rolę w ocenie rokowania pacjentów z CHD:

  • Echokardiografia przezklatkowa (TTE) – dostarcza informacji o funkcji skurczowej komory, wymiarach przedsionka oraz innych parametrach istotnych prognostycznie.22
  • Tomografia komputerowa układu sercowo-naczyniowego (CCT) – szczególnie przydatna w rozpoznawaniu rozwarstwienia, zatorowości płucnej i ropnia okołozastawkowego w kontekście zapalenia wsierdzia, gdzie może mieć przewagę nad echokardiografią i CMR ze względu na mniejszą podatność na artefakty związane z protezami zastawek.23
  • Rezonans magnetyczny serca (CMR) – wraz z wybranymi parametrami CPET, echokardiografią oraz poziomami NT-proBNP i GDF15 stanowi cenne narzędzie oceny pacjentów z ACHD, dostarczając najwięcej informacji o pacjentach i ich rokowaniu.24

Zastosowanie sztucznej inteligencji w prognozowaniu CHD

Postępy w nauce o danych przyspieszyły rozwój systemów wspomagania decyzji, które mogą pomóc lekarzom w przewidywaniu pogorszenia klinicznego i zarządzaniu pacjentami z CHD.25 Nowo opracowane algorytmy sztucznej inteligencji (AI) wykazały wyniki porównywalne z ludzkimi w diagnostyce klinicznej, wykorzystując algorytmy statystyczne i obliczeniowe, i oczekuje się, że częściowo przewyższą inteligencję ludzką w najbliższej przyszłości.26

Algorytmy uczenia się u pacjentów z CHD okazały się obiecujące w interpretacji EKG, obrazowaniu serca i przewidywaniu wyników operacji.27 Jednak aktualne algorytmy uczenia się nie są wystarczająco dokładne, aby zostać wdrożone do codziennej praktyki klinicznej.28 Dane na temat możliwości AI pozostają skąpe u pacjentów z CHD, a badania na dużych zbiorach danych są konieczne, aby zwiększyć czułość, swoistość, dokładność i znaczenie kliniczne tych algorytmów.29

Wyniki niedawnych badań nad algorytmami AI u pacjentów z CHD rzeczywiście wykazują obiecujące rezultaty, ponieważ algorytmy pomagają w analizie EKG, obrazowaniu serca i pomagają przewidywać wyniki.30 Wczesne wykrywanie jest kluczowe dla osiągnięcia lepszych wyników leczenia u dzieci z wrodzonymi wadami serca. Badanie w kraju o niskich dochodach wykazało, że wskaźnik opóźnionej diagnozy może wynosić nawet 85,1%.31

Obiecujące wyniki wykazano w badaniach nad klasyfikacją 12-odprowadzeniowego EKG w diagnostyce anatomicznej wrodzonych wad serca.32 Wydajność modeli AI w różnych wskaźnikach, w tym specyficzności, czułości, ROC-AUC i wynikach Briera, wykazała zdolność modelu do dokładnego rozróżniania objawów EKG związanych z CHD.33

Czynniki operacyjne i opieka intensywna

Śmiertelność okołooperacyjna u pacjentów z ACHD jest ogólnie niska, ale różni się w zależności od złożoności choroby.34 W badaniu obejmującym 342 przyjęć ACHD (całkowita śmiertelność 4,4%, prosta 0%, umiarkowana/złożona 10,6%), wymagania dotyczące specjalistycznych badań i interwencji były wysokie, co odzwierciedlają koszty przyjęcia na OIT na pacjenta (prosta $5391±130, umiarkowana $13218±261, złożona $30074±689).35

Standardowe systemy oceny ciężkości choroby nie przewidywały dokładnie śmiertelności; jednak nieprawidłowa przedoperacyjna funkcja tarczycy (p=0,0048), kreatynina (p=0,0032) i bilirubina (p=0,0021) były wysoce predykcyjne dla śmiertelności.36 Ustalenia te odzwierciedlają wymóg specjalistycznej opieki i mają implikacje dla planowania świadczenia usług, szkoleń i zgody operacyjnej u pacjentów z ACHD.37

Podsumowanie rokowania w CHD

Rokowanie w chorobie serca wrodzonej jest złożonym procesem, który wymaga uwzględnienia wielu czynników, takich jak typ i ciężkość wady, obecność anomalii pozasercowych, wyniki badań genetycznych oraz parametry kliniczne i laboratoryjne. Nie ma możliwości oceny i monitorowania ACHD za pomocą pojedynczego parametru lub prostej skali, która miałaby zastosowanie do całej populacji, podobnie jak klasyfikacja NYHA u pacjentów z niewydolnością serca.38

Biorąc pod uwagę wszystkie dostępne narzędzia diagnostyczne, wybrane parametry CPET, echokardiografię i obrazowanie metodą rezonansu magnetycznego, a także poziomy NT-proBNP i GDF15, są cennym narzędziem oceny pacjentów z ACHD, które dostarczają najwięcej informacji o pacjentach i ich rokowaniu.39 Nowe podejścia, takie jak sztuczna inteligencja, mogą w przyszłości znacząco poprawić możliwości prognozowania w tej grupie pacjentów.

Kolejne rozdziały

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

Materiały źródłowe

  • #1 Chromosomal analysis and short-term outcome of prenatally diagnosed congenital heart disease | Scientific Reports
    https://www.nature.com/articles/s41598-025-88570-8
    Congenital structural heart disease (CHD) is the leading cause of infant death from birth defects. Postnatal survival primarily depends on the type and severity of the defect. […] In addition, worse cardiac prognosis is observed when extra-cardiac anomalies (ECA) are associated. […] Neonatal outcome of prenatally-diagnosed CHD primarily depends on the type and severity of the defect. […] However, outcome varies within each CHD category and even between individuals with the same CHD type. […] In addition, worse cardiac (and extra-cardiac) prognosis is observed when extra-cardiac anomalies (ECA) and/or genetic pathogenic variants are present. […] The diagnostic yield of genetic testing highly depends on CHD type, family history and co-occurrence of ECA. […] When CHD is diagnosed prenatally, S-CHD is difficult to differentiate from NS-CHD, as assessment of facial features and development is impossible or limited, and some ECA, such as coloboma, minor limb defects or cleft palate, may be missed.
  • #2 Chromosomal analysis and short-term outcome of prenatally diagnosed congenital heart disease
    https://lirias.kuleuven.be/4216942
    Congenital structural heart disease (CHD) is the leading cause of infant death from birth defects. Postnatal survival primarily depends on the type and severity of the defect. […] This retrospective chart review was aimed at finding markers for short-term outcome prediction of prenatally-diagnosed complex CHD, focusing in particular on the impact of CHD category, of CHD severity score and of prenatal or postnatal diagnosis of ECA or chromosomal anomalies on 4 primary outcomes: termination of pregnancy (TOP), intrauterine fetal demise, neonatal mortality and 1-year-survival rate. […] These results underscore the importance of genotyping and of accurate cardiac and extracardiac phenotyping for prognostication in fetuses with CHD.
  • #3 Editor’s Pick: Artificial Intelligence in Patients with Congenital Heart Disease: Where Do We Stand? – European Medical Journal
    https://www.emjreviews.com/cardiology/article/editors-pick-artificial-intelligence-in-patients-with-congenital-heart-disease-where-do-we-stand/
    Life expectancy of patients with congenital heart disease (CHD) has increased in recent decades; however, late complications remain frequent and difficult to predict. […] Progress in data science has spurred the development of decision support systems and could aid physicians in predicting clinical deterioration and in the management of CHD patients. […] Newly developed artificial intelligence (AI) algorithms have shown performances comparable to humans in clinical diagnostics using statistical and computational algorithms and are expected to partly surpass human intelligence in the near future. […] Learning algorithms in patients with CHD have shown to be promising in the interpretation of ECG, cardiac imaging, and the prediction of surgical outcome. […] However, current learning algorithms are not accurate enough to be implemented into daily clinical practice.
  • #4 Chromosomal analysis and short-term outcome of prenatally diagnosed congenital heart disease | Scientific Reports
    https://www.nature.com/articles/s41598-025-88570-8
    Congenital structural heart disease (CHD) is the leading cause of infant death from birth defects. Postnatal survival primarily depends on the type and severity of the defect. […] In addition, worse cardiac prognosis is observed when extra-cardiac anomalies (ECA) are associated. […] Neonatal outcome of prenatally-diagnosed CHD primarily depends on the type and severity of the defect. […] However, outcome varies within each CHD category and even between individuals with the same CHD type. […] In addition, worse cardiac (and extra-cardiac) prognosis is observed when extra-cardiac anomalies (ECA) and/or genetic pathogenic variants are present. […] The diagnostic yield of genetic testing highly depends on CHD type, family history and co-occurrence of ECA. […] When CHD is diagnosed prenatally, S-CHD is difficult to differentiate from NS-CHD, as assessment of facial features and development is impossible or limited, and some ECA, such as coloboma, minor limb defects or cleft palate, may be missed.
  • #5 Chromosomal analysis and short-term outcome of prenatally diagnosed congenital heart disease | Scientific Reports
    https://www.nature.com/articles/s41598-025-88570-8
    Therefore, prenatal genetic testing is gaining importance in the prognostication of fetuses with complex CHD. […] This single-center retrospective chart review is aimed at finding markers for short-term outcome prediction of prenatally-diagnosed CHD, focusing in particular on the impact of CHD category, of CHD severity score and of prenatal or postnatal diagnosis of ECA or submicroscopic pathogenic CNVs on 4 primary outcomes: termination of pregnancy (TOP), intrauterine fetal demise (IUM), neonatal mortality and 1-year-survival rate. […] We showed that in addition to high CHD severity scores (severity score B) other factors such as prenatal diagnosis of pathogenic CNVs and prenatal co-occurrence of potentially life-threatening extracardiac anomalies (severity score A) were significantly associated with a decision to terminate pregnancy as well.
  • #6 Chromosomal analysis and short-term outcome of prenatally diagnosed congenital heart disease | Scientific Reports
    https://www.nature.com/articles/s41598-025-88570-8
    In addition, the presence of high complexity CHD and of major ECA, as well as prematurity, were negatively correlated with postnatal survival beyond the age of 1 month and of 1 year. […] The effect of a postnatal genetic diagnosis on early postnatal mortality may be related to an increased risk of peri-operative complications, as was described previously for genetic syndromes such as 22q11 deletion syndrome, to a higher occurrence of life-threatening ECA, or to a higher likelihood to opt for redirection of care in children with genetic syndromes with high morbidity. […] Follow-up studies are required to inquire about the long-term effects of prenatal or postnatal genetic diagnoses on morbidity and mortality in children born with CHD. […] In conclusion, we showed that cardiac and extracardiac phenotyping by prenatal ultrasound and elaborate prenatal genetic testing are crucial to provide adequate counseling to parents of fetuses with CHD with respect to postnatal survival rates.
  • #7 Chromosomal analysis and short-term outcome of prenatally diagnosed congenital heart disease | Scientific Reports
    https://www.nature.com/articles/s41598-025-88570-8
    In addition, the presence of high complexity CHD and of major ECA, as well as prematurity, were negatively correlated with postnatal survival beyond the age of 1 month and of 1 year. […] The effect of a postnatal genetic diagnosis on early postnatal mortality may be related to an increased risk of peri-operative complications, as was described previously for genetic syndromes such as 22q11 deletion syndrome, to a higher occurrence of life-threatening ECA, or to a higher likelihood to opt for redirection of care in children with genetic syndromes with high morbidity. […] Follow-up studies are required to inquire about the long-term effects of prenatal or postnatal genetic diagnoses on morbidity and mortality in children born with CHD. […] In conclusion, we showed that cardiac and extracardiac phenotyping by prenatal ultrasound and elaborate prenatal genetic testing are crucial to provide adequate counseling to parents of fetuses with CHD with respect to postnatal survival rates.
  • #8 Heart Failure Risk Predictions and Prognostic Factors in Adults With Congenital Heart Diseases
    https://pmc.ncbi.nlm.nih.gov/articles/PMC8907450/
    In recent decades the number of adults with congenital heart diseases (ACHD) has increased significantly. […] More and more adult patients with CHD present advanced forms of heart failure (about 20-50% of this population) which is main cause of death in ACHD population, and their quantity will be growing. […] The pathophysiology of HF in ACHD, unlike in the general population, is much more complex. […] The purpose of this work is to review current prognostic factors in ACHD and their significance in the diagnosis of heart failure, prognosis and management of patients with CHD and accompanying HF. […] The most basic parameter obtained in TTE is the systolic ventricular function (as expressed by an ejection fraction with the biplane Simpson’s method), which is a well-established prognostic factor.
  • #9 Heart Failure Risk Predictions and Prognostic Factors in Adults With Congenital Heart Diseases
    https://pmc.ncbi.nlm.nih.gov/articles/PMC8907450/
    In recent decades the number of adults with congenital heart diseases (ACHD) has increased significantly. […] More and more adult patients with CHD present advanced forms of heart failure (about 20-50% of this population) which is main cause of death in ACHD population, and their quantity will be growing. […] The pathophysiology of HF in ACHD, unlike in the general population, is much more complex. […] The purpose of this work is to review current prognostic factors in ACHD and their significance in the diagnosis of heart failure, prognosis and management of patients with CHD and accompanying HF. […] The most basic parameter obtained in TTE is the systolic ventricular function (as expressed by an ejection fraction with the biplane Simpson’s method), which is a well-established prognostic factor.
  • #10 Heart Failure Risk Predictions and Prognostic Factors in Adults With Congenital Heart Diseases
    https://pmc.ncbi.nlm.nih.gov/articles/PMC8907450/
    In recent decades the number of adults with congenital heart diseases (ACHD) has increased significantly. […] More and more adult patients with CHD present advanced forms of heart failure (about 20-50% of this population) which is main cause of death in ACHD population, and their quantity will be growing. […] The pathophysiology of HF in ACHD, unlike in the general population, is much more complex. […] The purpose of this work is to review current prognostic factors in ACHD and their significance in the diagnosis of heart failure, prognosis and management of patients with CHD and accompanying HF. […] The most basic parameter obtained in TTE is the systolic ventricular function (as expressed by an ejection fraction with the biplane Simpson’s method), which is a well-established prognostic factor.
  • #11 Heart Failure Risk Predictions and Prognostic Factors in Adults With Congenital Heart Diseases
    https://pmc.ncbi.nlm.nih.gov/articles/PMC8907450/
    The authors concluded also that a normally sized left atrium could accurately rule out the risk of death and heart failure with a high negative predictive value. […] Therefore, one may consider to incorporate it routinely in the assessment of Eisenmenger patients. […] Cardiovascular computed tomography (CCT) is particularly useful in dissection, pulmonary embolism, and paravalvular abscess in the setting of endocarditis, where it may have advantages over echocardiography and CMR due to being less susceptible to prosthetic valve artifact. […] The peak VO2 is one of the most useful and potent prognostic factor due to its strong association with increased risk of heart failure, hospitalization and mortality in ACHD. […] Serial testing of natriuretic peptides plays a role in identifying patients at risk for adverse events.
  • #12 Heart Failure Risk Predictions and Prognostic Factors in Adults With Congenital Heart Diseases
    https://pmc.ncbi.nlm.nih.gov/articles/PMC8907450/
    The authors concluded also that a normally sized left atrium could accurately rule out the risk of death and heart failure with a high negative predictive value. […] Therefore, one may consider to incorporate it routinely in the assessment of Eisenmenger patients. […] Cardiovascular computed tomography (CCT) is particularly useful in dissection, pulmonary embolism, and paravalvular abscess in the setting of endocarditis, where it may have advantages over echocardiography and CMR due to being less susceptible to prosthetic valve artifact. […] The peak VO2 is one of the most useful and potent prognostic factor due to its strong association with increased risk of heart failure, hospitalization and mortality in ACHD. […] Serial testing of natriuretic peptides plays a role in identifying patients at risk for adverse events.
  • #13 Heart Failure Risk Predictions and Prognostic Factors in Adults With Congenital Heart Diseases
    https://pmc.ncbi.nlm.nih.gov/articles/PMC8907450/
    The authors concluded also that a normally sized left atrium could accurately rule out the risk of death and heart failure with a high negative predictive value. […] Therefore, one may consider to incorporate it routinely in the assessment of Eisenmenger patients. […] Cardiovascular computed tomography (CCT) is particularly useful in dissection, pulmonary embolism, and paravalvular abscess in the setting of endocarditis, where it may have advantages over echocardiography and CMR due to being less susceptible to prosthetic valve artifact. […] The peak VO2 is one of the most useful and potent prognostic factor due to its strong association with increased risk of heart failure, hospitalization and mortality in ACHD. […] Serial testing of natriuretic peptides plays a role in identifying patients at risk for adverse events.
  • #14 Hypoalbuminaemia predicts outcome in adult patients with congenital heart disease | Heart
    https://heart.bmj.com/content/101/9/699
    Hypoalbuminaemia is common in patients with ACHD and is associated with a threefold increased risk of risk of death. […] Hypoalbuminaemia was a strong predictor of outcome in each of the three groups of diagnostic severity: HR 2.29, 95% CI 1.45 to 3.60 for simple ACHD; HR 3.66, 95% CI 2.21 to 6.05 for moderate ACHD; HR 3.51, 95% CI 2.83 to 4.87 for great complexity ACHD, p0.001 for all. […] Our study demonstrates for the first time that hypoalbuminaemia is common across the spectrum of ACHD and is a strong independent predictor of mortality. […] Hypoalbuminaemia likely relates to mortality in the ACHD population through various mechanisms. […] Hypoalbuminaemia was a predictor of mortality independent of creatinine levels and sodium concentration, suggesting that it carries prognostic information beyond renal dysfunction or neurohormonal activation. […] Hypoalbuminaemia in this setting is a robust, unifying parameter with sound pathophysiological background and should be an integral part of the decision making in this complex group of patients.
  • #15 Chromosomal analysis and short-term outcome of prenatally diagnosed congenital heart disease | Scientific Reports
    https://www.nature.com/articles/s41598-025-88570-8
    Congenital structural heart disease (CHD) is the leading cause of infant death from birth defects. Postnatal survival primarily depends on the type and severity of the defect. […] In addition, worse cardiac prognosis is observed when extra-cardiac anomalies (ECA) are associated. […] Neonatal outcome of prenatally-diagnosed CHD primarily depends on the type and severity of the defect. […] However, outcome varies within each CHD category and even between individuals with the same CHD type. […] In addition, worse cardiac (and extra-cardiac) prognosis is observed when extra-cardiac anomalies (ECA) and/or genetic pathogenic variants are present. […] The diagnostic yield of genetic testing highly depends on CHD type, family history and co-occurrence of ECA. […] When CHD is diagnosed prenatally, S-CHD is difficult to differentiate from NS-CHD, as assessment of facial features and development is impossible or limited, and some ECA, such as coloboma, minor limb defects or cleft palate, may be missed.
  • #16 Chromosomal analysis and short-term outcome of prenatally diagnosed congenital heart disease | Scientific Reports
    https://www.nature.com/articles/s41598-025-88570-8
    Therefore, prenatal genetic testing is gaining importance in the prognostication of fetuses with complex CHD. […] This single-center retrospective chart review is aimed at finding markers for short-term outcome prediction of prenatally-diagnosed CHD, focusing in particular on the impact of CHD category, of CHD severity score and of prenatal or postnatal diagnosis of ECA or submicroscopic pathogenic CNVs on 4 primary outcomes: termination of pregnancy (TOP), intrauterine fetal demise (IUM), neonatal mortality and 1-year-survival rate. […] We showed that in addition to high CHD severity scores (severity score B) other factors such as prenatal diagnosis of pathogenic CNVs and prenatal co-occurrence of potentially life-threatening extracardiac anomalies (severity score A) were significantly associated with a decision to terminate pregnancy as well.
  • #17 Chromosomal analysis and short-term outcome of prenatally diagnosed congenital heart disease | Scientific Reports
    https://www.nature.com/articles/s41598-025-88570-8
    In addition, the presence of high complexity CHD and of major ECA, as well as prematurity, were negatively correlated with postnatal survival beyond the age of 1 month and of 1 year. […] The effect of a postnatal genetic diagnosis on early postnatal mortality may be related to an increased risk of peri-operative complications, as was described previously for genetic syndromes such as 22q11 deletion syndrome, to a higher occurrence of life-threatening ECA, or to a higher likelihood to opt for redirection of care in children with genetic syndromes with high morbidity. […] Follow-up studies are required to inquire about the long-term effects of prenatal or postnatal genetic diagnoses on morbidity and mortality in children born with CHD. […] In conclusion, we showed that cardiac and extracardiac phenotyping by prenatal ultrasound and elaborate prenatal genetic testing are crucial to provide adequate counseling to parents of fetuses with CHD with respect to postnatal survival rates.
  • #18 Chromosomal analysis and short-term outcome of prenatally diagnosed congenital heart disease | Scientific Reports
    https://www.nature.com/articles/s41598-025-88570-8
    Congenital structural heart disease (CHD) is the leading cause of infant death from birth defects. Postnatal survival primarily depends on the type and severity of the defect. […] In addition, worse cardiac prognosis is observed when extra-cardiac anomalies (ECA) are associated. […] Neonatal outcome of prenatally-diagnosed CHD primarily depends on the type and severity of the defect. […] However, outcome varies within each CHD category and even between individuals with the same CHD type. […] In addition, worse cardiac (and extra-cardiac) prognosis is observed when extra-cardiac anomalies (ECA) and/or genetic pathogenic variants are present. […] The diagnostic yield of genetic testing highly depends on CHD type, family history and co-occurrence of ECA. […] When CHD is diagnosed prenatally, S-CHD is difficult to differentiate from NS-CHD, as assessment of facial features and development is impossible or limited, and some ECA, such as coloboma, minor limb defects or cleft palate, may be missed.
  • #19 Predicting congenital heart defects: A comparison of three data mining methods | PLOS One
    https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0177811
    Our findings indicate that research focusing on developing predictive models for CHD is needed. […] Predictive models with good predictive ability can also be helpful for individual risk counseling. […] This study suggests that the three classifiers, which are noninvasive, can be used as a screening tool for detecting CHD high-risk groups of women before and during pregnancy.
  • #20 Predicting congenital heart defects: A comparison of three data mining methods | PLOS One
    https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0177811
    Congenital heart defects (CHD) is one of the most common birth defects in China. […] Therefore, screening groups of women with a high-risk of a CHD birth, both before and during pregnancy, is clinically important. […] Prediction models, with good predictive ability for identifying women whose offspring are likely to be prone to CHD, are therefore required. […] Our study is the first to predict CHD risks from all the actual live births in a general population. […] The predictive models of our study can discriminate between high and low risk. […] The previous outcome of Logit and WRF showed family history, maternal previous illness history, maternal illness, insufficiency of nutrition, and folic acid supplementation were important risk factors for CHD. […] The models in our study can been used to predict CHD in other counties in the Shanxi Province, and can be used for refer for counties of other provinces.
  • #21 Predicting congenital heart defects: A comparison of three data mining methods | PLOS One
    https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0177811
    Our findings indicate that research focusing on developing predictive models for CHD is needed. […] Predictive models with good predictive ability can also be helpful for individual risk counseling. […] This study suggests that the three classifiers, which are noninvasive, can be used as a screening tool for detecting CHD high-risk groups of women before and during pregnancy.
  • #22 Heart Failure Risk Predictions and Prognostic Factors in Adults With Congenital Heart Diseases
    https://pmc.ncbi.nlm.nih.gov/articles/PMC8907450/
    In recent decades the number of adults with congenital heart diseases (ACHD) has increased significantly. […] More and more adult patients with CHD present advanced forms of heart failure (about 20-50% of this population) which is main cause of death in ACHD population, and their quantity will be growing. […] The pathophysiology of HF in ACHD, unlike in the general population, is much more complex. […] The purpose of this work is to review current prognostic factors in ACHD and their significance in the diagnosis of heart failure, prognosis and management of patients with CHD and accompanying HF. […] The most basic parameter obtained in TTE is the systolic ventricular function (as expressed by an ejection fraction with the biplane Simpson’s method), which is a well-established prognostic factor.
  • #23 Heart Failure Risk Predictions and Prognostic Factors in Adults With Congenital Heart Diseases
    https://pmc.ncbi.nlm.nih.gov/articles/PMC8907450/
    The authors concluded also that a normally sized left atrium could accurately rule out the risk of death and heart failure with a high negative predictive value. […] Therefore, one may consider to incorporate it routinely in the assessment of Eisenmenger patients. […] Cardiovascular computed tomography (CCT) is particularly useful in dissection, pulmonary embolism, and paravalvular abscess in the setting of endocarditis, where it may have advantages over echocardiography and CMR due to being less susceptible to prosthetic valve artifact. […] The peak VO2 is one of the most useful and potent prognostic factor due to its strong association with increased risk of heart failure, hospitalization and mortality in ACHD. […] Serial testing of natriuretic peptides plays a role in identifying patients at risk for adverse events.
  • #24 Heart Failure Risk Predictions and Prognostic Factors in Adults With Congenital Heart Diseases
    https://pmc.ncbi.nlm.nih.gov/articles/PMC8907450/
    There is no possibility at the moment to assess and monitor ACHD with a single parameter or a simple scale that would apply to the whole population like the NYHA classification in heart failure patients. […] Considering all available diagnostic tools, selected CPET parameters, echocardiography and magnetic resonance imaging as well as NT-proBNP and GDF15 levels are valuable assessment tools of ACHD patients which provide the most information about patients and their prognosis.
  • #25 Editor’s Pick: Artificial Intelligence in Patients with Congenital Heart Disease: Where Do We Stand? – European Medical Journal
    https://www.emjreviews.com/cardiology/article/editors-pick-artificial-intelligence-in-patients-with-congenital-heart-disease-where-do-we-stand/
    Life expectancy of patients with congenital heart disease (CHD) has increased in recent decades; however, late complications remain frequent and difficult to predict. […] Progress in data science has spurred the development of decision support systems and could aid physicians in predicting clinical deterioration and in the management of CHD patients. […] Newly developed artificial intelligence (AI) algorithms have shown performances comparable to humans in clinical diagnostics using statistical and computational algorithms and are expected to partly surpass human intelligence in the near future. […] Learning algorithms in patients with CHD have shown to be promising in the interpretation of ECG, cardiac imaging, and the prediction of surgical outcome. […] However, current learning algorithms are not accurate enough to be implemented into daily clinical practice.
  • #26 Editor’s Pick: Artificial Intelligence in Patients with Congenital Heart Disease: Where Do We Stand? – European Medical Journal
    https://www.emjreviews.com/cardiology/article/editors-pick-artificial-intelligence-in-patients-with-congenital-heart-disease-where-do-we-stand/
    Life expectancy of patients with congenital heart disease (CHD) has increased in recent decades; however, late complications remain frequent and difficult to predict. […] Progress in data science has spurred the development of decision support systems and could aid physicians in predicting clinical deterioration and in the management of CHD patients. […] Newly developed artificial intelligence (AI) algorithms have shown performances comparable to humans in clinical diagnostics using statistical and computational algorithms and are expected to partly surpass human intelligence in the near future. […] Learning algorithms in patients with CHD have shown to be promising in the interpretation of ECG, cardiac imaging, and the prediction of surgical outcome. […] However, current learning algorithms are not accurate enough to be implemented into daily clinical practice.
  • #27 Editor’s Pick: Artificial Intelligence in Patients with Congenital Heart Disease: Where Do We Stand? – European Medical Journal
    https://www.emjreviews.com/cardiology/article/editors-pick-artificial-intelligence-in-patients-with-congenital-heart-disease-where-do-we-stand/
    Life expectancy of patients with congenital heart disease (CHD) has increased in recent decades; however, late complications remain frequent and difficult to predict. […] Progress in data science has spurred the development of decision support systems and could aid physicians in predicting clinical deterioration and in the management of CHD patients. […] Newly developed artificial intelligence (AI) algorithms have shown performances comparable to humans in clinical diagnostics using statistical and computational algorithms and are expected to partly surpass human intelligence in the near future. […] Learning algorithms in patients with CHD have shown to be promising in the interpretation of ECG, cardiac imaging, and the prediction of surgical outcome. […] However, current learning algorithms are not accurate enough to be implemented into daily clinical practice.
  • #28 Editor’s Pick: Artificial Intelligence in Patients with Congenital Heart Disease: Where Do We Stand? – European Medical Journal
    https://www.emjreviews.com/cardiology/article/editors-pick-artificial-intelligence-in-patients-with-congenital-heart-disease-where-do-we-stand/
    Life expectancy of patients with congenital heart disease (CHD) has increased in recent decades; however, late complications remain frequent and difficult to predict. […] Progress in data science has spurred the development of decision support systems and could aid physicians in predicting clinical deterioration and in the management of CHD patients. […] Newly developed artificial intelligence (AI) algorithms have shown performances comparable to humans in clinical diagnostics using statistical and computational algorithms and are expected to partly surpass human intelligence in the near future. […] Learning algorithms in patients with CHD have shown to be promising in the interpretation of ECG, cardiac imaging, and the prediction of surgical outcome. […] However, current learning algorithms are not accurate enough to be implemented into daily clinical practice.
  • #29 Editor’s Pick: Artificial Intelligence in Patients with Congenital Heart Disease: Where Do We Stand? – European Medical Journal
    https://www.emjreviews.com/cardiology/article/editors-pick-artificial-intelligence-in-patients-with-congenital-heart-disease-where-do-we-stand/
    Data on AI possibilities remain scarce in patients with CHD, and studies on large data sets are warranted to increase sensitivity, specificity, accuracy, and clinical relevance of these algorithms. […] This review provides an overview of the possibilities of AI for patients with CHD. […] However, the SE, SP, and accuracy are not yet high enough to be able to implement these algorithms safely in daily practice. […] The use of AI algorithms in cardiology has gained enormous interest in recent years and is predicted to grow even more in the upcoming years. […] In patients with CHD, on the other hand, the authors found only 18 articles on learning algorithms. […] These algorithms have high potential in the population of patients with CHD. […] Prediction of deterioration in these patients could save lives.
  • #30 Editor’s Pick: Artificial Intelligence in Patients with Congenital Heart Disease: Where Do We Stand? – European Medical Journal
    https://www.emjreviews.com/cardiology/article/editors-pick-artificial-intelligence-in-patients-with-congenital-heart-disease-where-do-we-stand/
    Results of recent studies on AI algorithms in patients with CHD indeed show promising results, as the algorithms aid analysis of ECG, cardiac imaging, and helps to predict outcomes. […] However, current data on AI algorithms in patients with CHD is still limited and larger scale studies are warranted to provide algorithms that could assist physicians better in the future with high SE, SP, and accuracy.
  • #31 Congenital heart disease detection by pediatric electrocardiogram based deep learning integrated with human concepts | Nature Communications
    https://www.nature.com/articles/s41467-024-44930-y
    Early detection is critical to achieving improved treatment outcomes for child patients with congenital heart diseases (CHDs). […] A study in a low-income country has demonstrated that the delay diagnosis rate can be up to 85.1%. […] In general, CHDs are caused by structural abnormalities such as holes and leaky valves, which change the electrocardiovectors and can present abnormal manifestations in electrocardiogram (ECG) signals theoretically. […] Our study directly impacts CHD detection with pediatric electrocardiogram and demonstrates the potential of pediatric electrocardiogram for broader benefits. […] The performance across comprehensive metrics, including specificity, sensitivity, ROC-AUC, and Brier scores, demonstrated the model’s ability to accurately distinguish CHD-related ECG manifestations.
  • #32 [2312.09437] Riemannian Prediction of Anatomical Diagnoses in Congenital Heart Disease based on 12-lead ECGs
    https://ar5iv.labs.arxiv.org/html/2312.09437
    We demonstrated promising results on 12-lead ECG classification of anatomical diagnosis in congenital heart disease. […] Our proposed projection of the augmented covariance matrices to multiple Riemannian spaces yields significantly better results in improving classification performance with small and extremely imbalanced 12-lead ECG data.
  • #33 Congenital heart disease detection by pediatric electrocardiogram based deep learning integrated with human concepts | Nature Communications
    https://www.nature.com/articles/s41467-024-44930-y
    Early detection is critical to achieving improved treatment outcomes for child patients with congenital heart diseases (CHDs). […] A study in a low-income country has demonstrated that the delay diagnosis rate can be up to 85.1%. […] In general, CHDs are caused by structural abnormalities such as holes and leaky valves, which change the electrocardiovectors and can present abnormal manifestations in electrocardiogram (ECG) signals theoretically. […] Our study directly impacts CHD detection with pediatric electrocardiogram and demonstrates the potential of pediatric electrocardiogram for broader benefits. […] The performance across comprehensive metrics, including specificity, sensitivity, ROC-AUC, and Brier scores, demonstrated the model’s ability to accurately distinguish CHD-related ECG manifestations.
  • #34
    https://link.springer.com/article/10.1007/s00134-007-0544-z
    Peri-operative mortality in patients with ACHD is low overall but varies with disease complexity. […] Although standard severity of illness scoring is unhelpful, simple pre-operative parameters may predict peri-operative mortality. […] These findings reflect the requirement for specialist care, and have implications for planning service provision, training and operative consent in ACHD patients.
  • #35
    https://link.springer.com/article/10.1007/s00134-007-0544-z
    Improved patient survival and increasingly complex surgery have expanded the requirement for specialist care for patients with adult congenital heart disease (ACHD). […] The aims of the current study were to therefore to determine the pattern of intensive care unit (ICU) management, resource utilisation and predictors of mortality in critically ill ACHD patients. […] Of 342 ACHD admissions (total mortality 4.4%, simple 0%, moderate/complex 10.6%), the requirement for specialist investigations and interventions was high, reflected in ICU admission costs per patient (simple $5391130, moderate $13218261, complex $30074689). […] Standard severity of illness scoring systems did not accurately predict mortality; however, abnormal pre-operative thyroid function (p=0.0048), creatinine (p=0.0032) and bilirubin (p=0.0021) were highly predictive of mortality.
  • #36
    https://link.springer.com/article/10.1007/s00134-007-0544-z
    Improved patient survival and increasingly complex surgery have expanded the requirement for specialist care for patients with adult congenital heart disease (ACHD). […] The aims of the current study were to therefore to determine the pattern of intensive care unit (ICU) management, resource utilisation and predictors of mortality in critically ill ACHD patients. […] Of 342 ACHD admissions (total mortality 4.4%, simple 0%, moderate/complex 10.6%), the requirement for specialist investigations and interventions was high, reflected in ICU admission costs per patient (simple $5391130, moderate $13218261, complex $30074689). […] Standard severity of illness scoring systems did not accurately predict mortality; however, abnormal pre-operative thyroid function (p=0.0048), creatinine (p=0.0032) and bilirubin (p=0.0021) were highly predictive of mortality.
  • #37
    https://link.springer.com/article/10.1007/s00134-007-0544-z
    Peri-operative mortality in patients with ACHD is low overall but varies with disease complexity. […] Although standard severity of illness scoring is unhelpful, simple pre-operative parameters may predict peri-operative mortality. […] These findings reflect the requirement for specialist care, and have implications for planning service provision, training and operative consent in ACHD patients.
  • #38 Heart Failure Risk Predictions and Prognostic Factors in Adults With Congenital Heart Diseases
    https://pmc.ncbi.nlm.nih.gov/articles/PMC8907450/
    There is no possibility at the moment to assess and monitor ACHD with a single parameter or a simple scale that would apply to the whole population like the NYHA classification in heart failure patients. […] Considering all available diagnostic tools, selected CPET parameters, echocardiography and magnetic resonance imaging as well as NT-proBNP and GDF15 levels are valuable assessment tools of ACHD patients which provide the most information about patients and their prognosis.
  • #39 Heart Failure Risk Predictions and Prognostic Factors in Adults With Congenital Heart Diseases
    https://pmc.ncbi.nlm.nih.gov/articles/PMC8907450/
    There is no possibility at the moment to assess and monitor ACHD with a single parameter or a simple scale that would apply to the whole population like the NYHA classification in heart failure patients. […] Considering all available diagnostic tools, selected CPET parameters, echocardiography and magnetic resonance imaging as well as NT-proBNP and GDF15 levels are valuable assessment tools of ACHD patients which provide the most information about patients and their prognosis.

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sztuczna inteligencja w medycynie klasyfikacja NYHA test wysiłkowy sercowo-płucny GDF15 niewydolność serca funkcja tarczycy zapalenie wsierdzia echokardiografia przezklatkowa frakcja wyrzutowa wrodzona choroba serca hipoalbuminemia 12-odprowadzeniowe EKG wrodzone wady serca NT-proBNP peptydy natriuretyczne zatorowość płucna śmiertelność okołooperacyjna rezonans magnetyczny serca badania genetyczne wrodzona wada serca u dorosłych algorytmy uczenia maszynowego