Genetics of Congenital Heart Disease: Past and Present.

Abstract:

:Congenital heart disease is the most common congenital anomaly, representing an important cause of infant morbidity and mortality. Congenital heart disease represents a group of heart anomalies that include septal defects, valve defects, and outflow tract anomalies. The exact genetic, epigenetic, or environmental basis of congenital heart disease remains poorly understood, although the exact mechanism is likely multifactorial. However, the development of new technologies including copy number variants, single-nucleotide polymorphism, next-generation sequencing are accelerating the detection of genetic causes of heart anomalies. Recent studies suggest a role of small non-coding RNAs, micro RNA, in congenital heart disease. The recently described epigenetic factors have also been found to contribute to cardiac morphogenesis. In this review, we present past and recent genetic discoveries in congenital heart disease.

journal_name

Biochem Genet

journal_title

Biochemical genetics

authors

Muntean I,Togănel R,Benedek T

doi

10.1007/s10528-016-9780-7

subject

Has Abstract

pub_date

2017-04-01 00:00:00

pages

105-123

issue

2

eissn

0006-2928

issn

1573-4927

pii

10.1007/s10528-016-9780-7

journal_volume

55

pub_type

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