학술논문

Familial recurrence of congenital heart diseases.
Document Type
Article
Source
Journal of Perinatology. Nov2011, Vol. 31 Issue 11, p742-743. 2p. 1 Diagram.
Subject
*CONGENITAL heart disease
*DISEASE relapse
*GENETICS
Language
ISSN
0743-8346
Abstract
Familial recurrence of congenital heart disease (CHD), in particular, d-transposition of great arteries (d-TGA) is rare. However, there have been several reports in the literature of sibling recurrence of total anomalous pulmonary venous return (TAPVR). This is the first case report in the literature, describing mother to offspring recurrence of d-TGA. We describe two cases of non-syndromic CHD with mother to offspring and sibling recurrence. The first case is an antenatally diagnosed d-TGA on fetal echocardiogram at 25 weeks of gestational age in the offspring of a 30-year-old mother with d-TGA. The second case is a sibling reoccurrence of TAPVR diagnosed antenatally at 30 weeks of gestational age, with supradiaphragmatic TAPVR on fetal echocardiogram in a mother, whose first child was diagnosed with infradiaphragmatic TAPVR in infancy. [ABSTRACT FROM AUTHOR]