Tag: congenital heart disease
Tricuspid Atresia: Current Understanding, Diagnosis, and Management
Tricuspid atresia (TA) is a cyanotic congenital heart defect characterized by the absence or complete occlusion of the tricuspid valve, preventing normal blood flow from the right atrium to the right ventricle. This condition occurs in approximately 0.5–1.2 per 10,000 live births, accounting for ~3–5% of all congenital heart diseases (PHI registry data, Circulation, 2023).…
Ebstein anomaly – epidemiology, signs, symptoms, treatment
1. 🔍 Definition & Pathophysiology Ebstein anomaly is a rare congenital cardiac defect characterized by downward (apical) displacement of the septal and posterior leaflets of the tricuspid valve into the right ventricle, resulting in “atrialization” of a portion of the RV and dilatation of the right atrium. Leaflets may be tethered or fenestrated, with an…
Down Syndrome (Trisomy 21): A Comprehensive Overview
DefinitionDown syndrome (DS), or Trisomy 21, is a constitutional chromosomal disorder caused by the presence of an extra full or partial copy of chromosome 21. This additional genetic material disrupts typical embryonic and postnatal development, leading to a characteristic pattern of cognitive, physical, and medical features that vary widely in severity across individuals. Three cytogenetic…
