Is a Shorter Atrioventricular Septal Length an Intermediate Phenotype in the Spectrum of Nonsyndromic Atrioventricular Septal Defects?

Sonali S. Patel; Larry T. Mahoney; Trudy L. Burns

doi:10.1016/j.echo.2012.03.011

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Is a Shorter Atrioventricular Septal Length an Intermediate Phenotype in the Spectrum of Nonsyndromic Atrioventricular Septal Defects?

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Is a Shorter Atrioventricular Septal Length an Intermediate Phenotype in the Spectrum of Nonsyndromic Atrioventricular Septal Defects?

Sonali S. Patel, Larry T. Mahoney and Trudy L. Burns

Journal of the American Society of Echocardiography, Vol.25(7), pp.782-789

07/2012

DOI: 10.1016/j.echo.2012.03.011

PMCID: PMC3383386

PMID: 22542274

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https://www.ncbi.nlm.nih.gov/pmc/articles/3383386View

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Abstract

Atrioventricular septal defects (AVSDs) account for 7% of all congenital cardiovascular malformations. The atrioventricular septum (AVS) is the portion of the septal tissue that separates the right atrium from the left ventricle; deficiency of the AVS contributes to the AVSD phenotype. A study of case and control families was performed to identify whether an intermediate phenotype consisting of a shortened AVS existed in relatives of children with AVSDs. AVS length (AVSL) was measured on the echocardiograms of clinically unaffected parents and siblings from families that were identified through children with nonsyndromic AVSDs and in families with no histories of congenital heart disease. No significant differences were seen between case and control family members in terms of gender, age, weight, and height. AVSLs were significantly shorter in case parents compared with control parents. Similar findings were noted within the sibling groups. There was significant evidence for two-component distributions in the case parent, case sibling, and control sibling groups after standardizing AVSL for age and body surface area. Heritability of AVSL standardized for age and body surface area was 0.82 and 0.71 in nonsyndromic case and control families, respectively. Evidence for two-component distributions from the analysis of AVSL standardized for age and body surface area for case parents and case siblings suggests the presence of an intermediate phenotype for nonsyndromic AVSD. The high heritability in the control families suggests that there may be polygenic involvement in the determination of AVSL. Broadening the definition of AVSD to include those with shortened AVSL may increase the power of genetic association and mapping studies to identify susceptibility genes for AVSD.

Atrioventricular canal defects

Atrioventricular septal defect

Congenital heart defects

Defect

Endocardial cushion

Phenotype

Details

Title: Subtitle: Is a Shorter Atrioventricular Septal Length an Intermediate Phenotype in the Spectrum of Nonsyndromic Atrioventricular Septal Defects?
Creators: Sonali S. Patel - Roy J. and Lucille A. Carver College of Medicine
Larry T. Mahoney - University of Iowa
Trudy L. Burns - University of Iowa
Resource Type: Journal article
Publication Details: Journal of the American Society of Echocardiography, Vol.25(7), pp.782-789
DOI: 10.1016/j.echo.2012.03.011
PMID: 22542274
PMCID: PMC3383386
NLM abbreviation: J Am Soc Echocardiogr
ISSN: 0894-7317
eISSN: 1097-6795
Publisher: Mosby, Inc
Grant note: National Institutes of Health KL2RR024980 / National Center for Advancing Translational Sciences National Center for Research Resources
Language: English
Date published: 07/2012
Academic Unit: Stead Family Department of Pediatrics; Epidemiology; Fraternal Order of Eagles Diabetes Research Center
Record Identifier: 9984364426302771

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