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The Complex Genetic Basis of Congenital Heart Defects.

Circulation journal : official journal of the Japanese Circulation Society - 25 Apr 2017

Akhirome Ehiole, Walton Nephi A, Nogee Julie M, Jay Patrick Y

Abstract excerpt

Twenty years ago, chromosomal abnormalities were the only identifiable genetic causes of a small fraction of congenital heart defects (CHD). Today, a de novo or inherited genetic abnormality can be identified as pathogenic in one-third of cases. We refer to them here as monogenic causes, insofar as the genetic abnormality has a readily detectable, large effect. What explains the other two-thirds? This review...

Topics

Genetic Variation
Heart
Heart Defects, Congenital
Humans
Mutation

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 28381817
DOI: 10.1253/circj.CJ-16-1343
PMCID: PMC5715472

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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