Ebstein's anomaly with imperforate tricuspid valve. Prenatal diagnosis

Abstract

Ebstein's anomaly is an uncommon congenital heart defect, with a prevalence of 0.3-0.5%. Its association with an imperforate tricuspid valve is an even more rare situation (less than 10% of cases). Prenatal diagnosis of this association by means of fetal echocardiography has not been reported. We describe here this association diagnosed before birth and confirmed after birth. The diagnostic potential and importance of fetal echocardiography during prenatal evaluation of cardiac malformations allows for adequate perinatal planning and management, with an obvious impact on morbidity and mortality.

Ebstein's anomaly in pregnancy: Maternal and neonatal outcomes

“…Ebstein's anomaly is a rare congenital cardiac defect with a prevalence of 0.3–0.5% 1 . It is a complex congenital anomaly of the tricuspid valve leading to variable pathological features according to associated heart defects and severity of lesion 1,2 . The average life expectancy of patients with Ebstein's anomaly is 25–30 years 3,4 .…”

“…Survival into adulthood is common, and patients present with cyanosis, dyspnea and palpitations 1,6,7 . During pregnancy, the cardiac symptoms may be variable, from asymptomatic to cyanosis, congestive heart failure, right heart failure, systemic or pulmonary embolism, and tachyarrhythmia 4,5 .…”

Pregnant woman with Ebstein’s anomaly

“…EA may manifest clinically at any age and has a highly variable clinical course. Adults often present with cyanosis, dyspnea, palpitations, decreasing exercise tolerance, fatigue [4][5][6][7][8][9]. In the presence of an interatrial communication the risk of paradoxical embolization, brain abscess and sudden cardiac death increases.…”

The “wall-to-wall” heart in the patient with pulmonary atresia and intact ventricular septum

“…Indeed, in rare circumstances, the valve deformed by Ebstein's malformation can be imperforate, producing a variant of tricuspid atresia. 32,[37][38][39][40] The hearts seen with tricuspid stenosis or atresia, however, do not typically show exorbitant cardiac enlargement, and hence do not fall within the category of "wall-to-wall" heart.…”