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J. Cardiovasc. Dev. Dis. 2015, 2(2), 76-92; doi:10.3390/jcdd2020076

Rationale for the Cytogenomics of Cardiovascular Malformations Consortium: A Phenotype Intensive Registry Based Approach

1
Divisions of Cardiology and Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA
2
Center for Cardiovascular and Pulmonary Research and Heart Center, Nationwide Children's Hospital and Department of Pediatrics, Ohio State University, Columbus, OH 43205, USA
3
Division of Pediatric Cardiology, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
4
Division of Cardiology, Children's Healthcare of Atlanta, Atlanta, GA 30322, USA
5
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
6
Departments of Pediatrics and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA
*
Author to whom correspondence should be addressed.
Academic Editors: Cheryl L. Maslen and Russell Norris
Received: 24 March 2015 / Revised: 18 April 2015 / Accepted: 22 April 2015 / Published: 29 April 2015
(This article belongs to the Special Issue Genetics and Cardiovascular Development and Disease)
View Full-Text   |   Download PDF [773 KB, uploaded 29 April 2015]   |  

Abstract

Cardiovascular malformations (CVMs) are the most common birth defect, occurring in 1%–5% of all live births. Although the genetic contribution to CVMs is well recognized, the genetic causes of human CVMs are identified infrequently. In addition, a failure of systematic deep phenotyping of CVMs, resulting from the complexity and heterogeneity of malformations, has obscured genotype-phenotype correlations and contributed to a lack of understanding of disease mechanisms. To address these knowledge gaps, we have developed the Cytogenomics of Cardiovascular Malformations (CCVM) Consortium, a multi-site alliance of geneticists and cardiologists, contributing to a database registry of submicroscopic genetic copy number variants (CNVs) based on clinical chromosome microarray testing in individuals with CVMs using detailed classification schemes. Cardiac classification is performed using a modification to the National Birth Defects Prevention Study approach, and non-cardiac diagnoses are captured through ICD-9 and ICD-10 codes. By combining a comprehensive approach to clinically relevant genetic analyses with precise phenotyping, the Consortium goal is to identify novel genomic regions that cause or increase susceptibility to CVMs and to correlate the findings with clinical phenotype. This registry will provide critical insights into genetic architecture, facilitate genotype-phenotype correlations, and provide a valuable resource for the medical community. View Full-Text
Keywords: genetics; genomics; pediatrics; cardiovascular malformation; registry; chromosome microarray; copy number variation genetics; genomics; pediatrics; cardiovascular malformation; registry; chromosome microarray; copy number variation
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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MDPI and ACS Style

Hinton, R.B.; McBride, K.L.; Bleyl, S.B.; Bowles, N.E.; Border, W.L.; Garg, V.; Smolarek, T.A.; Lalani, S.R.; Ware, S.M. Rationale for the Cytogenomics of Cardiovascular Malformations Consortium: A Phenotype Intensive Registry Based Approach. J. Cardiovasc. Dev. Dis. 2015, 2, 76-92.

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J. Cardiovasc. Dev. Dis. EISSN 2308-3425 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
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