TY  - JOUR
AU  - Sahoo, Laxminarayan
AU  - Murmu, Payal
AU  - Ghanta, Mohan Krishna
AU  - Bhaskar, LVKS
PY  - 2025
DA  - 2025/10/30
TI  - Etiopathogenesis of Ebstein’s Anomaly Revisited
JO  - OBM Genetics
SP  - 314
VL  - 09
IS  - 04
AB  - Ebstein's anomaly (EA) is a rare form of congenital heart disease (CHD), characterized by abnormal cardiac anatomy involving a defective tricuspid valve (TV), resulting in tricuspid regurgitation (TR) and cyanosis. EA is represented in different case scenarios with varying degrees of complexity across various age groups. It usually affects 0.2-0.7 out of 10,000 live births and accounts for 0.3%-0.6% of all CHD cases. While its occurrence is mainly sporadic, evidence from multiple studies suggests that EA can be associated with genetic alterations, including mutations in MYH7, SCN5A, TPM1, NKX2-5, and KLHL26, as well as large-scale deletions such as a ~403 kb intragenic deletion in the GMDS gene, which contribute to defective cardiac development. These genes are believed to play critical roles in important pathways essential for normal mammalian cardiac development. This review aims to address existing gaps in the literature by highlighting the recent genetic findings, advancements in diagnostic and prognostic approaches, management strategies, and surgical interventions from neonates to adults.
SN  - 2577-5790
UR  - https://doi.org/10.21926/obm.genet.2504314
DO  - 10.21926/obm.genet.2504314
ID  - Sahoo2025
ER  -