Wada ebsteina – Rokowania, prognozy i postęp choroby

Wada ebsteina
Rokowania, prognozy i postęp choroby

Wada Ebsteina to rzadka, wrodzona wada zastawki trójdzielnej o zróżnicowanym rokowaniu, z wysoką śmiertelnością okołoporodową, szczególnie u płodów z fizjologią krążenia okrężnego i niedomykalnością płucną. Kluczowymi czynnikami prognostycznymi są: przepływ przez zastawkę płucną (przepływ wsteczny koreluje ze śmiertelnością, przepływ do przodu wskazuje na lepsze rokowanie), wiek ciążowy poniżej 32 tygodni, zwiększony wymiar pierścienia zastawki trójdzielnej (wysoki wskaźnik z-score), obecność wysięku osierdziowego oraz wsteczny przepływ w przewodzie tętniczym. Stopień atrializacji prawej komory determinuje jej funkcję i rokowanie, a współczynnik równy 1 u noworodków wskazuje na bardzo złe rokowanie. Śmiertelność noworodków wynosi 15-50% do 10. roku życia, a po 20 latach od operacji przeżywa około 76% pacjentów, choć 65% wymaga hospitalizacji z powodu powikłań sercowych.

Prognostyka Wady Ebsteina

Czynniki rokownicze w okresie płodowym
Śmiertelność i przeżycie długoterminowe
Czynniki ryzyka u dorosłych pacjentów
Podłoże genetyczne a rokowanie
Innowacyjne podejścia terapeutyczne
Kolejne rozdziały

Prognostyka Wady Ebsteina

Wada Ebsteina (ang. Ebstein’s anomaly) to rzadka, ale poważna wada wrodzona zastawki trójdzielnej, która charakteryzuje się zróżnicowanym rokowaniem – od przypadków śmiertelnych w okresie płodowym i noworodkowym, do pacjentów dożywających późnego wieku dorosłego bez konieczności interwencji terapeutycznych.¹² Mimo znaczących postępów w opiece prenatalnej oraz diagnostyce i leczeniu wrodzonych wad serca w ostatnich dekadach, śmiertelność okołoporodowa w przypadku płodów z wadą Ebsteina pozostaje alarmująco wysoka.³

Czynniki rokownicze w okresie płodowym

Istnieje kilka istotnych czynników prognostycznych dla płodów z wadą Ebsteina, zidentyfikowanych w badaniach naukowych:⁴⁵

Przepływ przez zastawkę płucną – stanowi najważniejszy i najłatwiejszy do oceny czynnik prognostyczny. Przepływ wsteczny przez zastawkę płucną silnie koreluje ze śmiertelnością płodu lub noworodka, podczas gdy przepływ do przodu wskazuje na dobre rokowanie.⁶
Niedomykalność płucna – szczególnie istotna jako wskaźnik fizjologii krążenia okrężnego (circular shunt), który często prowadzi do zgonu.⁷
Wiek ciążowy poniżej 32 tygodni w momencie diagnozy.⁸
Zwiększony wymiar pierścienia zastawki trójdzielnej (wyższy wskaźnik z-score).⁹
Obecność wysięku osierdziowego.¹⁰
Wsteczny przepływ w przewodzie tętniczym – płody z tym objawem wymagają szczególnie uważnej obserwacji przez całą ciążę, ponieważ różne czynniki hemodynamiczne mogą pogarszać rokowanie.¹¹

Stopień atrializacji prawej komory jest kluczowym wskaźnikiem determinującym stopień rozszerzenia i dysfunkcji prawej komory. Ciężko atrializowana prawa komora, niezdolna do generowania odpowiedniego stopnia przepływu do przodu w okresie płodowym, może prowadzić do hipoplazji lub atrezji zastawki płucnej.¹² W przypadku noworodków, współczynnik równy 1 wskazuje na bardzo złe rokowanie.¹³

Śmiertelność i przeżycie długoterminowe

Śmiertelność związana z wadą Ebsteina jest szczególnie wysoka w okresie płodowym i noworodkowym. Poza wysoką śmiertelnością wewnątrzmaciczną, 15-50% noworodków urodzonych z tą wadą nie przeżywa do 10. roku życia.¹⁴ Jednakże rokowanie jest znacznie lepsze w przypadku łagodniejszych form wady.¹⁵

W przypadku pacjentów poddanych zabiegom chirurgicznym, długoterminowe wyniki są zróżnicowane. Według jednego z badań, które objęło 539 pacjentów operowanych z powodu wady Ebsteina w latach 1972-2006, po 20 latach od operacji:¹⁶

65% pacjentów doświadczyło co najmniej jednej hospitalizacji związanej z sercem
76% pacjentów pozostawało przy życiu

Warto podkreślić, że dla pacjentów operowanych obecnie, wyniki mogą być lepsze dzięki udoskonaleniu procedur chirurgicznych i opieki pooperacyjnej.¹⁷

Czynniki ryzyka u dorosłych pacjentów

Dorośli pacjenci z wadą Ebsteina są narażeni na szereg poważnych powikłań, w tym:¹⁸

Tachyarytmie przedsionkowe (AT) – częste powikłanie, które poprzedza zazwyczaj tachyarytmie komorowe i zgon
Tachyarytmie komorowe (VT)
Niewydolność serca zastoinowa
Nagły zgon sercowy

Badania z wykorzystaniem rezonansu magnetycznego serca (CMR) wskazują, że markerami złego rokowania u dorosłych z wadą Ebsteina są:¹⁹

Zaburzenia funkcji obu komór serca (korelują ze śmiertelnością i utrzymującą się tachykardią komorową)
Pierwsze wystąpienie tachyarytmii przedsionkowej wykazuje najsilniejszą korelację z objętością komór i przemieszczeniem płatka przegrodowego zastawki/długością lewej komory

Te wstępne dane potwierdzają zasadność włączenia rezonansu magnetycznego serca jako narzędzia prognostycznego w okresowej ocenie pacjentów z wadą Ebsteina.²⁰

Podłoże genetyczne a rokowanie

Badania genetyczne sugerują, że w przeciwieństwie do niektórych innych wad wrodzonych, wada Ebsteina nie jest spowodowana dużymi, powtarzającymi się wariantami liczby kopii (CNV). Jednakże w badaniach wykryto rzadkie, potencjalnie patogenne CNV u ponad połowy badanych przypadków.²¹

Szczególnie podkreśla się znaczenie szlaku BMP w zmienionym rozwoju mięśnia sercowego. Dodatkowo, badania wskazują, że nieprawidłowe różnicowanie kardiomiocytów może być istotnym czynnikiem etiologicznym wady Ebsteina.²²

Istotną obserwacją jest fakt, że 23% badanych przypadków wady Ebsteina (11 z 47) posiadało warianty sekwencyjne w genach związanych z kardiomiopatią dziedziczoną autosomalnie dominująco. Wyniki te dodatkowo wspierają rolę mięśnia sercowego w patogenezie wady Ebsteina.²³

Innowacyjne podejścia terapeutyczne

Biorąc pod uwagę utrzymującą się wysoką śmiertelność, szczególnie w przypadkach z fizjologią krążenia okrężnego (manifestującą się niedomykalnością płucną), istnieje pilna potrzeba opracowania bardziej innowacyjnych metod terapeutycznych w celu poprawy przeżywalności.²⁴ Płody z tymi złymi czynnikami prognostycznymi stanowią grupę wysokiego ryzyka i mogą odnieść korzyść z nowatorskich podejść terapeutycznych.²⁵

Monitorowanie płodów przez całą ciążę jest kluczowe, szczególnie w przypadkach ze wstecznym przepływem w przewodzie tętniczym, ponieważ różne czynniki hemodynamiczne mogą wpływać na pogorszenie rokowania.²⁶

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Materiały źródłowe

#1 Ebsteinâs Anomaly: Causes, Symptoms & Treatment
https://my.clevelandclinic.org/health/diseases/16946-ebsteins-anomaly-for-adults
The prognosis for Ebsteins anomaly varies widely. Some infants with the condition dont survive, while other people live a normal lifespan and never need treatment. In general, the prognosis is better if you have a mild form of the condition. […] People who undergo surgery may continue to have heart problems. Lifespan after surgery may also decline. One study followed 539 patients with Ebsteins anomaly who had surgery between 1972 and 2006. Twenty years after surgery, 65% of patients had at least one heart-related hospitalization and 76% were alive. For people who receive surgery today, outcomes may be better due to improvements in surgical procedures and follow-up care.
#2 Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways | PLOS One
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0165174
Ebstein anomaly (EA) is a rare but serious congenital heart defect (CHD) that was first described in 1866 by Wilhelm Ebstein. […] In addition to high intrauterine mortality, 15-50% of neonates born with EA do not survive to age 10 years. […] Our results suggest that unlike some other birth defects, EA is not caused by large recurrent CNVs. However, we found rare, potentially pathogenic CNVs carried by more than one-half of NYS EA cases. […] Our results specifically highlight the importance of the BMP pathway in altered myocardial development. Additionally, multiple genes within candidate CNVs and gene set enrichment analysis suggest abnormal differentiation of cardiomyocytes should be investigated as a potential etiological factor. Finally, 11 of 47 EA cases (23%) carry sequence variants in genes associated with autosomal dominant cardiomyopathy; these results further support the role of the myocardium in the pathogenesis of EA.
#3 Outcomes and Predictors of Perinatal Mortality in Fetuses With Ebstein Anomaly or Tricuspid Valve Dysplasia in the Current Era
https://pmc.ncbi.nlm.nih.gov/articles/PMC7086479/
Ebstein anomaly and tricuspid valve dysplasia are rare congenital tricuspid valve malformations associated with high perinatal mortality. […] In this large, contemporary series of fetuses with Ebstein anomaly and tricuspid valve dysplasia, perinatal mortality remained high. […] Independent predictors of mortality at the time of diagnosis were gestational age 32 weeks, tricuspid valve annulus diameter z-score, pulmonary regurgitation, and a pericardial effusion. […] Fetuses with pulmonary regurgitation, indicating circular shunt physiology, are a high-risk cohort and may benefit from more innovative therapeutic approaches to improve survival. […] The presence of pulmonary regurgitation, in particular, signifies circular shunt physiology, which often culminated in mortality. […] The other risk factors for perinatal mortality at the time of diagnosis by multivariable analysis were GA 32 weeks, larger TV annulus diameter z-score, and a pericardial effusion. […] Despite major advances in prenatal care and the diagnosis and management of congenital heart disease over the past several decades, perinatal mortality in fetuses with EA/TVD remains alarmingly high.
#4 Outcomes and Predictors of Perinatal Mortality in Fetuses With Ebstein Anomaly or Tricuspid Valve Dysplasia in the Current Era
https://pmc.ncbi.nlm.nih.gov/articles/PMC7086479/
Ebstein anomaly and tricuspid valve dysplasia are rare congenital tricuspid valve malformations associated with high perinatal mortality. […] In this large, contemporary series of fetuses with Ebstein anomaly and tricuspid valve dysplasia, perinatal mortality remained high. […] Independent predictors of mortality at the time of diagnosis were gestational age 32 weeks, tricuspid valve annulus diameter z-score, pulmonary regurgitation, and a pericardial effusion. […] Fetuses with pulmonary regurgitation, indicating circular shunt physiology, are a high-risk cohort and may benefit from more innovative therapeutic approaches to improve survival. […] The presence of pulmonary regurgitation, in particular, signifies circular shunt physiology, which often culminated in mortality. […] The other risk factors for perinatal mortality at the time of diagnosis by multivariable analysis were GA 32 weeks, larger TV annulus diameter z-score, and a pericardial effusion. […] Despite major advances in prenatal care and the diagnosis and management of congenital heart disease over the past several decades, perinatal mortality in fetuses with EA/TVD remains alarmingly high.
#5 Ebstein’s anomaly and tricuspid valve dysplasia: prognosis after diagnosis in utero – PubMed
https://pubmed.ncbi.nlm.nih.gov/22639000/
Tricuspid valve malformation is a rare congenital heart disease. Prenatal diagnosis of Ebstein’s anomaly (EA) and tricuspid valve dysplasia (TVD) is associated with high mortality. There are conflicting reports concerning accurate prognostication after diagnosis in utero. The aim of our study was to assess prognostic factors based on our experience. […] We found that the major prognostic factor for outcome was the flow pattern through the pulmonary valve on the first echocardiogram. Retrograde flow was strongly correlated with fetal or neonatal death (p = 8 10(-5)), and anterograde flow predicted good outcome (p = 8 10(-5)). […] Flow through the pulmonary valve on the first echocardiogram is a simple and excellent prognostic factor when major tricuspid valve disease is diagnosed in utero. Fetuses should be monitored throughout pregnancy, particularly those with retrograde ductus arteriosus, because several hemodynamic factors may worsen the prognosis.
#6 Ebstein’s anomaly and tricuspid valve dysplasia: prognosis after diagnosis in utero – PubMed
https://pubmed.ncbi.nlm.nih.gov/22639000/
Tricuspid valve malformation is a rare congenital heart disease. Prenatal diagnosis of Ebstein’s anomaly (EA) and tricuspid valve dysplasia (TVD) is associated with high mortality. There are conflicting reports concerning accurate prognostication after diagnosis in utero. The aim of our study was to assess prognostic factors based on our experience. […] We found that the major prognostic factor for outcome was the flow pattern through the pulmonary valve on the first echocardiogram. Retrograde flow was strongly correlated with fetal or neonatal death (p = 8 10(-5)), and anterograde flow predicted good outcome (p = 8 10(-5)). […] Flow through the pulmonary valve on the first echocardiogram is a simple and excellent prognostic factor when major tricuspid valve disease is diagnosed in utero. Fetuses should be monitored throughout pregnancy, particularly those with retrograde ductus arteriosus, because several hemodynamic factors may worsen the prognosis.
#7 Outcomes and Predictors of Perinatal Mortality in Fetuses With Ebstein Anomaly or Tricuspid Valve Dysplasia in the Current Era
https://pmc.ncbi.nlm.nih.gov/articles/PMC7086479/
Ebstein anomaly and tricuspid valve dysplasia are rare congenital tricuspid valve malformations associated with high perinatal mortality. […] In this large, contemporary series of fetuses with Ebstein anomaly and tricuspid valve dysplasia, perinatal mortality remained high. […] Independent predictors of mortality at the time of diagnosis were gestational age 32 weeks, tricuspid valve annulus diameter z-score, pulmonary regurgitation, and a pericardial effusion. […] Fetuses with pulmonary regurgitation, indicating circular shunt physiology, are a high-risk cohort and may benefit from more innovative therapeutic approaches to improve survival. […] The presence of pulmonary regurgitation, in particular, signifies circular shunt physiology, which often culminated in mortality. […] The other risk factors for perinatal mortality at the time of diagnosis by multivariable analysis were GA 32 weeks, larger TV annulus diameter z-score, and a pericardial effusion. […] Despite major advances in prenatal care and the diagnosis and management of congenital heart disease over the past several decades, perinatal mortality in fetuses with EA/TVD remains alarmingly high.
#8 Outcomes and Predictors of Perinatal Mortality in Fetuses With Ebstein Anomaly or Tricuspid Valve Dysplasia in the Current Era
https://pmc.ncbi.nlm.nih.gov/articles/PMC7086479/
Ebstein anomaly and tricuspid valve dysplasia are rare congenital tricuspid valve malformations associated with high perinatal mortality. […] In this large, contemporary series of fetuses with Ebstein anomaly and tricuspid valve dysplasia, perinatal mortality remained high. […] Independent predictors of mortality at the time of diagnosis were gestational age 32 weeks, tricuspid valve annulus diameter z-score, pulmonary regurgitation, and a pericardial effusion. […] Fetuses with pulmonary regurgitation, indicating circular shunt physiology, are a high-risk cohort and may benefit from more innovative therapeutic approaches to improve survival. […] The presence of pulmonary regurgitation, in particular, signifies circular shunt physiology, which often culminated in mortality. […] The other risk factors for perinatal mortality at the time of diagnosis by multivariable analysis were GA 32 weeks, larger TV annulus diameter z-score, and a pericardial effusion. […] Despite major advances in prenatal care and the diagnosis and management of congenital heart disease over the past several decades, perinatal mortality in fetuses with EA/TVD remains alarmingly high.
#9 Outcomes and Predictors of Perinatal Mortality in Fetuses With Ebstein Anomaly or Tricuspid Valve Dysplasia in the Current Era
https://pmc.ncbi.nlm.nih.gov/articles/PMC7086479/
Ebstein anomaly and tricuspid valve dysplasia are rare congenital tricuspid valve malformations associated with high perinatal mortality. […] In this large, contemporary series of fetuses with Ebstein anomaly and tricuspid valve dysplasia, perinatal mortality remained high. […] Independent predictors of mortality at the time of diagnosis were gestational age 32 weeks, tricuspid valve annulus diameter z-score, pulmonary regurgitation, and a pericardial effusion. […] Fetuses with pulmonary regurgitation, indicating circular shunt physiology, are a high-risk cohort and may benefit from more innovative therapeutic approaches to improve survival. […] The presence of pulmonary regurgitation, in particular, signifies circular shunt physiology, which often culminated in mortality. […] The other risk factors for perinatal mortality at the time of diagnosis by multivariable analysis were GA 32 weeks, larger TV annulus diameter z-score, and a pericardial effusion. […] Despite major advances in prenatal care and the diagnosis and management of congenital heart disease over the past several decades, perinatal mortality in fetuses with EA/TVD remains alarmingly high.
#10 Outcomes and Predictors of Perinatal Mortality in Fetuses With Ebstein Anomaly or Tricuspid Valve Dysplasia in the Current Era
https://pmc.ncbi.nlm.nih.gov/articles/PMC7086479/
Ebstein anomaly and tricuspid valve dysplasia are rare congenital tricuspid valve malformations associated with high perinatal mortality. […] In this large, contemporary series of fetuses with Ebstein anomaly and tricuspid valve dysplasia, perinatal mortality remained high. […] Independent predictors of mortality at the time of diagnosis were gestational age 32 weeks, tricuspid valve annulus diameter z-score, pulmonary regurgitation, and a pericardial effusion. […] Fetuses with pulmonary regurgitation, indicating circular shunt physiology, are a high-risk cohort and may benefit from more innovative therapeutic approaches to improve survival. […] The presence of pulmonary regurgitation, in particular, signifies circular shunt physiology, which often culminated in mortality. […] The other risk factors for perinatal mortality at the time of diagnosis by multivariable analysis were GA 32 weeks, larger TV annulus diameter z-score, and a pericardial effusion. […] Despite major advances in prenatal care and the diagnosis and management of congenital heart disease over the past several decades, perinatal mortality in fetuses with EA/TVD remains alarmingly high.
#11 Ebstein’s anomaly and tricuspid valve dysplasia: prognosis after diagnosis in utero – PubMed
https://pubmed.ncbi.nlm.nih.gov/22639000/
Tricuspid valve malformation is a rare congenital heart disease. Prenatal diagnosis of Ebstein’s anomaly (EA) and tricuspid valve dysplasia (TVD) is associated with high mortality. There are conflicting reports concerning accurate prognostication after diagnosis in utero. The aim of our study was to assess prognostic factors based on our experience. […] We found that the major prognostic factor for outcome was the flow pattern through the pulmonary valve on the first echocardiogram. Retrograde flow was strongly correlated with fetal or neonatal death (p = 8 10(-5)), and anterograde flow predicted good outcome (p = 8 10(-5)). […] Flow through the pulmonary valve on the first echocardiogram is a simple and excellent prognostic factor when major tricuspid valve disease is diagnosed in utero. Fetuses should be monitored throughout pregnancy, particularly those with retrograde ductus arteriosus, because several hemodynamic factors may worsen the prognosis.
#12 Ebstein Anomaly | Pediatric Echocardiography
https://pedecho.org/library/chd/ebstein-anomaly
Ebstein anomaly can vary in severity. The degree of RV atrialization dictates the amount of RV dilation and dysfunction. A severely atrialized right ventricle unable to generate the appropriate degree of antegrade flow in utero may lead to pulmonary valve hypoplasia/atresia. RV dysfunction varies from inability to generate prograde flow across the pulmonary valve during the neonatal period to a reasonably well developed pulmonary valve and branch pulmonary arteries (mild variants). […] A ratio of 1 in neonate indicates a very poor prognosis.
#13 Ebstein Anomaly | Pediatric Echocardiography
https://pedecho.org/library/chd/ebstein-anomaly
Ebstein anomaly can vary in severity. The degree of RV atrialization dictates the amount of RV dilation and dysfunction. A severely atrialized right ventricle unable to generate the appropriate degree of antegrade flow in utero may lead to pulmonary valve hypoplasia/atresia. RV dysfunction varies from inability to generate prograde flow across the pulmonary valve during the neonatal period to a reasonably well developed pulmonary valve and branch pulmonary arteries (mild variants). […] A ratio of 1 in neonate indicates a very poor prognosis.
#14 Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways | PLOS One
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0165174
Ebstein anomaly (EA) is a rare but serious congenital heart defect (CHD) that was first described in 1866 by Wilhelm Ebstein. […] In addition to high intrauterine mortality, 15-50% of neonates born with EA do not survive to age 10 years. […] Our results suggest that unlike some other birth defects, EA is not caused by large recurrent CNVs. However, we found rare, potentially pathogenic CNVs carried by more than one-half of NYS EA cases. […] Our results specifically highlight the importance of the BMP pathway in altered myocardial development. Additionally, multiple genes within candidate CNVs and gene set enrichment analysis suggest abnormal differentiation of cardiomyocytes should be investigated as a potential etiological factor. Finally, 11 of 47 EA cases (23%) carry sequence variants in genes associated with autosomal dominant cardiomyopathy; these results further support the role of the myocardium in the pathogenesis of EA.
#15 Ebsteinâs Anomaly: Causes, Symptoms & Treatment
https://my.clevelandclinic.org/health/diseases/16946-ebsteins-anomaly-for-adults
The prognosis for Ebsteins anomaly varies widely. Some infants with the condition dont survive, while other people live a normal lifespan and never need treatment. In general, the prognosis is better if you have a mild form of the condition. […] People who undergo surgery may continue to have heart problems. Lifespan after surgery may also decline. One study followed 539 patients with Ebsteins anomaly who had surgery between 1972 and 2006. Twenty years after surgery, 65% of patients had at least one heart-related hospitalization and 76% were alive. For people who receive surgery today, outcomes may be better due to improvements in surgical procedures and follow-up care.
#16 Ebsteinâs Anomaly: Causes, Symptoms & Treatment
https://my.clevelandclinic.org/health/diseases/16946-ebsteins-anomaly-for-adults
The prognosis for Ebsteins anomaly varies widely. Some infants with the condition dont survive, while other people live a normal lifespan and never need treatment. In general, the prognosis is better if you have a mild form of the condition. […] People who undergo surgery may continue to have heart problems. Lifespan after surgery may also decline. One study followed 539 patients with Ebsteins anomaly who had surgery between 1972 and 2006. Twenty years after surgery, 65% of patients had at least one heart-related hospitalization and 76% were alive. For people who receive surgery today, outcomes may be better due to improvements in surgical procedures and follow-up care.
#17 Ebsteinâs Anomaly: Causes, Symptoms & Treatment
https://my.clevelandclinic.org/health/diseases/16946-ebsteins-anomaly-for-adults
The prognosis for Ebsteins anomaly varies widely. Some infants with the condition dont survive, while other people live a normal lifespan and never need treatment. In general, the prognosis is better if you have a mild form of the condition. […] People who undergo surgery may continue to have heart problems. Lifespan after surgery may also decline. One study followed 539 patients with Ebsteins anomaly who had surgery between 1972 and 2006. Twenty years after surgery, 65% of patients had at least one heart-related hospitalization and 76% were alive. For people who receive surgery today, outcomes may be better due to improvements in surgical procedures and follow-up care.
#18 Major adverse events and atrial tachycardia in Ebsteinâs anomaly predicted by cardiovascular magnetic resonance | Heart
https://heart.bmj.com/content/104/1/37
Patients with Ebsteins anomaly of the tricuspid valve (EA) are at risk of tachyarrhythmia, congestive heart failure and sudden cardiac death. […] CMR-derived indices carry prognostic information regarding MACE and first-onset AT among adults with unrepaired EA. […] Mortality in Ebsteins anomaly (EA) of the tricuspid valve relates to ventricular tachyarrhythmia, congestive heart failure and sudden cardiac death. […] The onset of atrial tachyarrhythmia (AT) in adults is associated with significant morbidity. […] CMR-derived markers of biventricular function were associated with mortality and sustained ventricular tachycardia (VT). […] Atrial tachyarrhythmia (AT) was common, preceded VT and death, and was associated with right-sided impairment. […] First onset of AT showed strongest correlation with a composite of ventricular volumes and displacement of the septal valve leaflet/LV length. […] These preliminary data support incorporating CMR as a prognostic tool in the periodic assessment of patients with EA.
#19 Major adverse events and atrial tachycardia in Ebsteinâs anomaly predicted by cardiovascular magnetic resonance | Heart
https://heart.bmj.com/content/104/1/37
Patients with Ebsteins anomaly of the tricuspid valve (EA) are at risk of tachyarrhythmia, congestive heart failure and sudden cardiac death. […] CMR-derived indices carry prognostic information regarding MACE and first-onset AT among adults with unrepaired EA. […] Mortality in Ebsteins anomaly (EA) of the tricuspid valve relates to ventricular tachyarrhythmia, congestive heart failure and sudden cardiac death. […] The onset of atrial tachyarrhythmia (AT) in adults is associated with significant morbidity. […] CMR-derived markers of biventricular function were associated with mortality and sustained ventricular tachycardia (VT). […] Atrial tachyarrhythmia (AT) was common, preceded VT and death, and was associated with right-sided impairment. […] First onset of AT showed strongest correlation with a composite of ventricular volumes and displacement of the septal valve leaflet/LV length. […] These preliminary data support incorporating CMR as a prognostic tool in the periodic assessment of patients with EA.
#20 Major adverse events and atrial tachycardia in Ebsteinâs anomaly predicted by cardiovascular magnetic resonance | Heart
https://heart.bmj.com/content/104/1/37
Patients with Ebsteins anomaly of the tricuspid valve (EA) are at risk of tachyarrhythmia, congestive heart failure and sudden cardiac death. […] CMR-derived indices carry prognostic information regarding MACE and first-onset AT among adults with unrepaired EA. […] Mortality in Ebsteins anomaly (EA) of the tricuspid valve relates to ventricular tachyarrhythmia, congestive heart failure and sudden cardiac death. […] The onset of atrial tachyarrhythmia (AT) in adults is associated with significant morbidity. […] CMR-derived markers of biventricular function were associated with mortality and sustained ventricular tachycardia (VT). […] Atrial tachyarrhythmia (AT) was common, preceded VT and death, and was associated with right-sided impairment. […] First onset of AT showed strongest correlation with a composite of ventricular volumes and displacement of the septal valve leaflet/LV length. […] These preliminary data support incorporating CMR as a prognostic tool in the periodic assessment of patients with EA.
#21 Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways | PLOS One
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0165174
Ebstein anomaly (EA) is a rare but serious congenital heart defect (CHD) that was first described in 1866 by Wilhelm Ebstein. […] In addition to high intrauterine mortality, 15-50% of neonates born with EA do not survive to age 10 years. […] Our results suggest that unlike some other birth defects, EA is not caused by large recurrent CNVs. However, we found rare, potentially pathogenic CNVs carried by more than one-half of NYS EA cases. […] Our results specifically highlight the importance of the BMP pathway in altered myocardial development. Additionally, multiple genes within candidate CNVs and gene set enrichment analysis suggest abnormal differentiation of cardiomyocytes should be investigated as a potential etiological factor. Finally, 11 of 47 EA cases (23%) carry sequence variants in genes associated with autosomal dominant cardiomyopathy; these results further support the role of the myocardium in the pathogenesis of EA.
#22 Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways | PLOS One
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0165174
Ebstein anomaly (EA) is a rare but serious congenital heart defect (CHD) that was first described in 1866 by Wilhelm Ebstein. […] In addition to high intrauterine mortality, 15-50% of neonates born with EA do not survive to age 10 years. […] Our results suggest that unlike some other birth defects, EA is not caused by large recurrent CNVs. However, we found rare, potentially pathogenic CNVs carried by more than one-half of NYS EA cases. […] Our results specifically highlight the importance of the BMP pathway in altered myocardial development. Additionally, multiple genes within candidate CNVs and gene set enrichment analysis suggest abnormal differentiation of cardiomyocytes should be investigated as a potential etiological factor. Finally, 11 of 47 EA cases (23%) carry sequence variants in genes associated with autosomal dominant cardiomyopathy; these results further support the role of the myocardium in the pathogenesis of EA.
#23 Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways | PLOS One
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0165174
Ebstein anomaly (EA) is a rare but serious congenital heart defect (CHD) that was first described in 1866 by Wilhelm Ebstein. […] In addition to high intrauterine mortality, 15-50% of neonates born with EA do not survive to age 10 years. […] Our results suggest that unlike some other birth defects, EA is not caused by large recurrent CNVs. However, we found rare, potentially pathogenic CNVs carried by more than one-half of NYS EA cases. […] Our results specifically highlight the importance of the BMP pathway in altered myocardial development. Additionally, multiple genes within candidate CNVs and gene set enrichment analysis suggest abnormal differentiation of cardiomyocytes should be investigated as a potential etiological factor. Finally, 11 of 47 EA cases (23%) carry sequence variants in genes associated with autosomal dominant cardiomyopathy; these results further support the role of the myocardium in the pathogenesis of EA.
#24 Outcomes and Predictors of Perinatal Mortality in Fetuses With Ebstein Anomaly or Tricuspid Valve Dysplasia in the Current Era
https://pmc.ncbi.nlm.nih.gov/articles/PMC7086479/
Ebstein anomaly and tricuspid valve dysplasia are rare congenital tricuspid valve malformations associated with high perinatal mortality. […] In this large, contemporary series of fetuses with Ebstein anomaly and tricuspid valve dysplasia, perinatal mortality remained high. […] Independent predictors of mortality at the time of diagnosis were gestational age 32 weeks, tricuspid valve annulus diameter z-score, pulmonary regurgitation, and a pericardial effusion. […] Fetuses with pulmonary regurgitation, indicating circular shunt physiology, are a high-risk cohort and may benefit from more innovative therapeutic approaches to improve survival. […] The presence of pulmonary regurgitation, in particular, signifies circular shunt physiology, which often culminated in mortality. […] The other risk factors for perinatal mortality at the time of diagnosis by multivariable analysis were GA 32 weeks, larger TV annulus diameter z-score, and a pericardial effusion. […] Despite major advances in prenatal care and the diagnosis and management of congenital heart disease over the past several decades, perinatal mortality in fetuses with EA/TVD remains alarmingly high.
#25 Outcomes and Predictors of Perinatal Mortality in Fetuses With Ebstein Anomaly or Tricuspid Valve Dysplasia in the Current Era
https://pmc.ncbi.nlm.nih.gov/articles/PMC7086479/
Ebstein anomaly and tricuspid valve dysplasia are rare congenital tricuspid valve malformations associated with high perinatal mortality. […] In this large, contemporary series of fetuses with Ebstein anomaly and tricuspid valve dysplasia, perinatal mortality remained high. […] Independent predictors of mortality at the time of diagnosis were gestational age 32 weeks, tricuspid valve annulus diameter z-score, pulmonary regurgitation, and a pericardial effusion. […] Fetuses with pulmonary regurgitation, indicating circular shunt physiology, are a high-risk cohort and may benefit from more innovative therapeutic approaches to improve survival. […] The presence of pulmonary regurgitation, in particular, signifies circular shunt physiology, which often culminated in mortality. […] The other risk factors for perinatal mortality at the time of diagnosis by multivariable analysis were GA 32 weeks, larger TV annulus diameter z-score, and a pericardial effusion. […] Despite major advances in prenatal care and the diagnosis and management of congenital heart disease over the past several decades, perinatal mortality in fetuses with EA/TVD remains alarmingly high.
#26 Ebstein’s anomaly and tricuspid valve dysplasia: prognosis after diagnosis in utero – PubMed
https://pubmed.ncbi.nlm.nih.gov/22639000/
Tricuspid valve malformation is a rare congenital heart disease. Prenatal diagnosis of Ebstein’s anomaly (EA) and tricuspid valve dysplasia (TVD) is associated with high mortality. There are conflicting reports concerning accurate prognostication after diagnosis in utero. The aim of our study was to assess prognostic factors based on our experience. […] We found that the major prognostic factor for outcome was the flow pattern through the pulmonary valve on the first echocardiogram. Retrograde flow was strongly correlated with fetal or neonatal death (p = 8 10(-5)), and anterograde flow predicted good outcome (p = 8 10(-5)). […] Flow through the pulmonary valve on the first echocardiogram is a simple and excellent prognostic factor when major tricuspid valve disease is diagnosed in utero. Fetuses should be monitored throughout pregnancy, particularly those with retrograde ductus arteriosus, because several hemodynamic factors may worsen the prognosis.