Pediatric Cardiac Genomics Consortium's Congenital Heart Disease Biobank

Institution(s): 
Icahn School of Medicine at Mount Sinai
Approx. Sample Size to be Sequenced: 
3230WGS (ph4), 308RNASeq (ph4)

Project:

PI: 
Bruce Gelb
Starting Phase: 
Phase 4
Phases Involved: 
4
Co-PI: 
Christine Seidman
Short Name: 
PCGC_CHD
Sequencing Center(s) Phase 4: 
Broad Institute Genomics Platform
Type of Sequencing: 
WGS
RNASeq
Sequencing External Funding: 
TOPMed Accession #: 
Description: 

Pediatric Cardiac Genomics Consortium (PCGC). CHD subjects were recruited to the Congenital Heart Disease Network Study of the Pediatric Cardiac Genomics Consortium (CHD GENES: ClinicalTrials.gov identifier NCT01196182). The institutional review boards of Boston's Children's Hospital, Brigham and Women's Hospital, Great Ormond Street Hospital, Children's Hospital of Los Angeles, Children's Hospital of Philadelphia, Columbia University Medical Center, Icahn School of Medicine at Mount Sinai, Rochester School of Medicine and Dentistry, Steven and Alexandra Cohen Children's Medical Center of New York, and Yale School of Medicine approved the protocols. All subjects or their parents provided informed consent. Subjects were selected for structural CHD (excluding PDA associated with prematurity, and pulmonic stenosis associated with twin-twin transfusion). Individuals with either an identified chromosomal aneuploidy or a CNV that is known to be associated with CHD were not included. For all subjects, cardiac diagnoses were obtained from review of all imaging and operative reports and entered as Fyler codes based on the International Paediatric and Congenital Cardiac Codes. All patients were evaluated at study entry using a standardized protocol consisting of an interview that includes maternal, paternal and birth history and whether the patient has been examined by a geneticist. A comprehensive review of the proband's medical record was performed that included height and weight data, along with presence or absence of a broad range of reported extracardiac malformations, the availability and results of genetic testing and the presence or absence of a clinical genetic diagnosis. For probands under age 1, specialty (other than cardiology) services obtained in the course of clinical care were documented. For probands over age 1, parents were asked if their child was diagnosed with developmental delay and whether educational supports were obtained. Each patient has a three-generation pedigree.