The Present and Future
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Advances in the Genetics of Congenital Heart Disease: A Clinician’s Guide

https://doi.org/10.1016/j.jacc.2016.11.060Get rights and content
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Abstract

Our understanding of the genetics of congenital heart disease (CHD) is rapidly expanding; however, many questions, particularly those relating to sporadic forms of disease, remain unanswered. Massively parallel sequencing technology has made significant contributions to the field, both from a diagnostic perspective for patients and, importantly, also from the perspective of disease mechanism. The importance of de novo variation in sporadic disease is a recent highlight, and the genetic link between heart and brain development has been established. Furthermore, evidence of an underlying burden of genetic variation contributing to sporadic and familial forms of CHD has been identified. Although we are still unable to identify the cause of CHD for most patients, recent findings have provided us with a much clearer understanding of the types of variants and their individual contributions and collectively mark an important milestone in our understanding of both familial and sporadic forms of disease.

Key Words

chromosome aberrations
comparative genomic hybridization
genome-wide association study
high-throughput nucleotide sequencing
molecular diagnosis
patient care

Abbreviations and Acronyms

AVSD
atrioventricular septal defect
CHD
congenital heart disease
CMA
chromosomal microarray
CNV
copy number variations
ECA
extracardiac congenital anomaly
GWAS
genome-wide association studies
MPS
massively parallel sequencing
NDD
neurodevelopmental disabilities
SNP
single-nucleotide polymorphism
TOF
tetralogy of Fallot
WGS
whole-genome sequencing

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The authors have reported that they have no relationships relevant to the contents of this paper to disclose.

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