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Genetics of congenital heart disease
#MMPMID26872209
Edwards JJ
; Gelb BD
Curr Opin Cardiol
2016[May]; 31
(3
): 235-41
PMID26872209
show ga
PURPOSE OF REVIEW: The goal of this review is to highlight recent discoveries in
the field of genetics as it relates to congenital heart disease (CHD). Recent
advancements in next generation sequencing technology and tools to interpret this
growing body of data have allowed us to refine our understanding of the molecular
mechanisms that result in CHD. RECENT FINDINGS: From multiple different study
designs, the genetic lesions that cause CHD are increasingly being elucidated. Of
the more novel findings, a forward genetic screen in mice has implicated
recessive inheritance and the ciliome broadly in CHD pathogenesis. The
developmental delays frequently observed in patients with CHD appear to result
from mutations affecting genes that overlap heart and brain developmental
regulation. A meta-analysis has provided clarity, discriminating pathologic from
incidental copy number variations and defining a critical region or gene.
SUMMARY: Recent technological advances have rapidly expanded our understanding of
CHD genetics, and support the applicability to the clinical domain in both
sporadic and inherited disease. Though significant gaps remain, genetic lesions
remain the primary explanation for CHD pathogenesis, although the precise
mechanism is likely multifactorial.
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