エプスタイン病

The population of adults living with congenital heart disease (CHD) has expanded substantially over the last 40 years due to advances in diagnostic, transcatheter, and surgical techniques. Consequently, clinicians, regardless of their specialty, will encounter patients presenting with sequelae of both simple and complex CHD more frequently. Familiarisation with the pathophysiology and basic management of these conditions, including the role of adult congenital heart disease (ACHD) centres, is, therefore, vital. The moderately complex congenital heart defects that may present in adulthood include atrioventricular septal defects (AVSD), Ebstein's anomaly (EA), tetralogy of Fallot (TOF) and transposition of the great arteries (TGA). Some of these defects are typically diagnosed and repaired in infancy, so clinicians must be aware of the possibility of adults presenting with post-repair complications, but some patients with unrepaired or undiagnosed defects remain asymptomatic until middle age, where they may present with heart failure, arrhythmia, endocarditis or even sudden cardiac death.

RATIONALE AND OBJECTIVES: Fetal echocardiography is the standard, rapid, affordable, and noninvasive modality for prenatal assessment of suspected congenital heart disease. Fetal cardiac magnetic resonance imaging (FCMRI) has emerged as a valuable adjunct, particularly when ultrasound is limited by maternal obesity, uterine fibroids, oligohydramnios, fetal malposition, or late-gestational acoustic shadowing. Consequently, this study aimed to evaluate the diagnostic utility of a newly proposed structured major/minor checklist system for FCMRI interpretation. By correlating structured FCMRI interpretations with postnatal echocardiographic outcomes, we assess the framework's reliability in characterizing structural cardiovascular anomalies, particularly when initial ultrasound evaluation is suboptimal. MATERIALS AND METHODS: Between May 2024 and November 2025, an initial cohort of 60 pregnant women was screened, yielding 52 singleton pregnancies with suspected fetal cardiac anomalies. These cases were prospectively evaluated with fetal echocardiography and FCMRI. Image interpretation was performed by two radiologists experienced in prenatal imaging and one pediatric cardiologist. Postnatal confirmation was available for 40 live-born infants; 12 intrauterine fetal death cases were excluded from postnatal diagnostic-performance analysis. RESULTS: Based on postnatal echocardiography, both modalities demonstrated high diagnostic performance. Fetal echocardiography yielded slightly higher sensitivity than FCMRI (96.5% vs. 93.1%), whereas FCMRI exhibited higher specificity (100% vs. 81.8%) and overall diagnostic accuracy (95.0% vs. 92.5%). Notably, FCMRI demonstrated a significantly higher overall concordance with postnatal echocardiography compared to fetal echocardiography for ductus-dependent critical lesions (90.0% vs. 77.5% total agreement). This superior concordance for FCMRI was particularly pronounced in identifying emergency ductus-dependent lesions (72.7% vs. 36.4% agreement in positive cases), alongside higher exact concordance in normal, conotruncal, and hypoplastic heart-spectrum categories, whereas fetal echocardiography showed higher concordance in tetralogy of Fallot and Ebstein anomaly. Both modalities showed similar concordance for atrioventricular septal defects. CONCLUSION: FCMRI is a useful complementary adjunct to fetal echocardiography, improving diagnostic confidence in complex cases and supporting prenatal counseling, delivery planning, and postnatal management.

Ebstein anomaly is a rare congenital heart defect that is characterized by failure of the tricuspid valve leaflets to delaminate from the right ventricular endocardium, resulting in apical displacement of the tricuspid valve annulus and atrialization of the right ventricle. An irreparable tricuspid valve generally precludes at least initial attempts at a biventricular repair in a young infant. Although there are commercially available prosthetic tricuspid valves small enough to be implanted in these patients, they are generally not appropriate for young infants due to their bulk, which makes them prone to producing heart block. We present a case in which a bovine jugular vein conduit was suspended inside a ringed polytetrafluoroethylene graft and successfully used as a bioprosthetic option for tricuspid valve replacement in a 10-week-old, 4.4 kg infant with Ebstein anomaly of the tricuspid valve, which we could not repair.

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PURPOSE: To describe associated anomalies and outcomes of prenatally diagnosed Ebstein's anomaly (EA)/tricuspid valve dysplasia (TVD) in a multicenter cohort and to identify predictors of adverse outcome (intrauterine or postnatal death). MATERIALS AND METHODS: In this retrospective study, cardiothoracic ratio, aortic valve diameter (AVD), pulmonary and atrioventricular valve measurements, ventricular dimensions, vena contracta, chamber areas, Celemajer index, peak tricuspid regurgitation velocity (TR_max), and pulmonary flow direction between survivors and non-survivors were compared across three gestational intervals. RESULTS: Among 87 fetuses, 7 (8.0%) intrauterine deaths and 7 (8.0%) terminations occurred; 14 (16.1%) were lost to follow-up. Fifty-nine (67.8%) live births with follow-up were documented; 52 (88.1%) underwent active postnatal management, with a survival rate of 69.2% (36/52). Non-survivors more frequently had hydrops, earlier delivery, and lower birth weight. z-score AVD (zAVD) was lower and pulmonary flow more often retrograde in non-survivors before 32 weeks. TR_max was lower in interval 1 (<24 weeks), and right atrial area and vena contracta were larger in interval 2 (24-32 weeks). No significant differences were observed after 32 weeks. CONCLUSION: This is one of the largest prenatal multicenter cohorts employing a longitudinal design, with echocardiographic data evaluation across three gestational intervals. Established predictors (pulmonary flow, TR_max) were confirmed and zAVD was identified as a simple, clinically applicable parameter, highlighting the relevance of left ventricular involvement in EA/TVD. Zusammenfassung: Ziel: Ziel dieser retrospektiven, multizentrischen Studie war es, assoziierte Anomalien und das Outcome bei pränatal diagnostizierter Ebstein-Anomalie /Trikuspidalklappendysplasie (EA/TVD) zu analysieren sowie Prädiktoren für ein ungünstiges Outcome (intrauteriner Fruchttod (IUFT), postnataler Tod) zu identifizieren. MATERIAL UND METHODEN: Retrospektiv wurden kardiothorakale Ratio, Aortenklappendurchmesser (AVD), pulmonale und atrioventrikuläre Klappen, Ventrikeldimensionen, Vena contracta, Vorhof-/Ventrikelflächen, Celemajer-Index, maximale Trikuspidalinsuffizienzgeschwindigkeit (TR_max) und Pulmonalflussrichtung zwischen Überlebenden und Nicht-Überlebenden in drei3 Gestationsintervallen verglichen. Ergebnisse: Von 87 Feten traten 7 (8,0%) IUFT auf, 7 (8,0%) Schwangerschaftsabbrüche erfolgten, 14 (16,1%) waren lost to follow-up. Insgesamt wurden 59/87 (67,8%) Lebendgeburten dokumentiert; 52 (88,1%) erhielten ein aktives postnatales Management mit einer Überlebensrate von 69,2% (36/52). Nicht-Überlebende zeigten häufiger Hydrops, frühere Entbindung und geringeres Geburtsgewicht. Der Z-Score des AVD (zAVD) war <32 Wochen niedriger, der Pulmonalfluss häufiger retrograd. TR_max war <24 Wochen niedriger, rechte Vorhoffläche und Vena contracta zwischen 24-32 Wochen größer. Nach 32 Wochen bestanden keine signifikanten Unterschiede. Schlussfolgerung: : Dies ist eine der größten pränatalen, multizentrischen Kohorten mit longitudinaler Auswertung über drei3 Gestationsintervalle. Etablierte Prädiktoren (Pulmonalfluss, TR_max) wurden bestätigt, und zAVD als einfacher, klinisch anwendbarer Parameter identifiziert, der die Relevanz der linksventrikulären Beteiligung bei EA/TVD unterstreicht.