Neurological, Extracardiac, and Cardiac Manifestations of Ebstein’s Anomaly Along With its Genetics, Diagnostic Techniques, Treatment Updates, and the Future Ahead

Abstract

Ebstein's anomaly is a congenital heart defect characterized by the displacement of the tricuspid valve, and its leaflets to be malformed. Due to the defect involving the tricuspid valve, there is a reverse flow of blood into the right-sided atrium, which may lead to cardiac hypertrophy and edema of the lower extremities. There is a decreased flow of blood out of the right heart due to reduced right ventricular contractility and tricuspid regurgitation. Children afflicted with this anomaly usually suffer from atrial septal defect and this is usually diagnosed before birth on a routine ultrasound scan. In neonates, cyanosis can be seen due to right-to-left atrial shunting or as a result of severe congestive heart failure. If the infant has pulmonary hypertension, cyanosis is markedly increased as there will be a limitation in pulmonary blood flow. In adults, arrhythmias, cyanosis, and heart failure are seen. The bundle of Kent leads to the formation of an electrical conduction abnormality between the right ventricle and atrium. This leads to a condition commonly known as Wolff-Parkinson-White syndrome in patients. An enlarged spherical heart is usually present on a chest Xray. ECG changes of Ebstein's anomaly show taller than usual P waves, PR prolongation, and right bundle branch block. There can be certain neurological and extracardiac manifestations too such as hemiplegia, stroke, dysarthria, etc. During fetal life, specifically at 16 and 20 weeks of gestation, the anomaly can be diagnosed via echocardiography. Prostaglandin infusion (PGE1) is given to maintain pulmonary circulation in neonates if cyanosis is seen. In children and adults with congestive cardiac failure due to this anomaly, medical management includes digoxin, beta-blockers, diuretics, and angiotensin converting enzyme (ACE) inhibitors to improve heart failure. Surgical treatment includes valve reconstruction. In this article, we review the pathophysiology, genetics, diagnosis, management, and prognosis of Ebstein's Anomaly along with a comprehensive discussion on its genetics, neurological manifestations, extracardiac features, and current advancements in treatment.

Valvulopathies and Genetics: Where are We?

“…These syndromes exhibit certain similarities in their manifestation, with overlapping features involving the cardiovascular system, skeletal structures, and the skin (Table 1 , Ref. [ 11 , 12 , 13 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 ]).…”

Case Report: unexpected cause of cyanosis in an infant after acute exposure to high altitude—severe tricuspid regurgitation secondary to tricuspid valve prolapse

“…On the other hand, primary TR, characterized by isolated damage to the tricuspid valve (TV) apparatus (including tricuspid leaflets, annulus, chordae, or papillary muscles), accounts for only 8%-10% of TR cases and is often overlooked (5). This type of TR is commonly associated with endocarditis, Ebstein anomaly, tumors, iatrogenic injury, trauma, and autoimmune diseases (6)(7)(8)(9)(10). However, chordal and papillary muscle rupture leading to tricuspid valve prolapse (TVP) is an extremely rare but emergent cause of TR (11).…”

Neuroimaging biomarkers for predicting stroke outcomes: A systematic review

“…Ebstein Anomaly may predispose individuals to stroke due to thromboembolic events, and paradoxical embolism. 7 …”

“…Ebstein Anomaly may predispose individuals to stroke due to thromboembolic events, and paradoxical embolism. 7 Early treatment decisions poststroke are essential to halt the progression of brain damage during ischemia and improve life quality.…”

“…Takotsubo cardiomyopathy, also known as “broken heart syndrome,” is a stress‐induced heart condition that can lead to stroke due to transient heart dysfunction and hypercoagulability. Ebstein Anomaly may predispose individuals to stroke due to thromboembolic events, and paradoxical embolism 7 …”