Cytogenomic Aberrations in Congenital Cardiovascular Malformations. - PubMed - NCBI

Cytogenomic Aberrations in Congenital Cardiovascular Malformations. - PubMed - NCBI

Mol Syndromol. 2016 May;7(2):51-61. doi: 10.1159/000445788. Epub 2016 Apr 26.

Cytogenomic Aberrations in Congenital Cardiovascular Malformations.

Azamian M1, Lalani SR1.

Author information

Abstract

Congenital cardiovascular malformations are the most common birth defects, with a complex multifactorial etiology. Genetic factors play an important role, illuminated by numerous cytogenetically visible abnormalities, as well as submicroscopic genomic imbalances affecting critical genomic regions in the affected individuals. Study of rare families with Mendelian forms, as well as emerging next-generation sequencing technologies have uncovered a multitude of genes relevant for human congenital cardiac diseases. It is clear that the complex embryology of human cardiac development, with an orchestrated interplay of transcription factors, chromatin regulators, and signal transduction pathway molecules can be easily perturbed by genomic imbalances affecting dosage-sensitive regions. This review focuses on chromosomal abnormalities contributing to congenital heart diseases and underscores several genomic disorders linked to human cardiac malformations in the last few decades.

KEYWORDS:

Aneuploidies; Congenital cardiovascular malformations; Cytogenomic abberations

PMID:

 

27385961

 

PMCID:

 

PMC4906429

 [Available on 2016-11-01]

 

DOI:

 

10.1159/000445788

[PubMed] 

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Public Health Genomics Knowledge Base (v1.2)



August 4-11, 2016 

CONGENITAL HEART DEFECTS

Last Updated: Aug 04, 2016

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Relevant Resources

• Cancer Genomics and Epidemiology Navigator (CGEN)
• Genetics and Genomics Competencies Center (G2C2)
• NIH Genetic Testing Registry
• NIH MedGen Database
• Online Mendelian Inheritance in Man (OMIM)
• PharmGKB