Congenital Heart Disease GEnetic NEtwork Study (CHD GENES)

Conditions

Congenital Heart Defects

Brief summary

Congenital heart defects (CHD) are the most common major human birth malformation, affecting \ 8 per 1,000 live births. CHD are associated with significant morbidity and mortality, and are second only to infectious diseases in contributing to the infant mortality rate. Current understanding of the etiology of pediatric cardiovascular disorders is limited. The Congenital Heart Disease GEnetic NEtwork Study (CHD GENES) is a multi-center, prospective observational cohort study. Participants will be recruited from the Pediatric Cardiac Genomics Consortium's (PCGC) centers of the NHLBI-sponsored Bench to Bassinet (B2B) Program. Biological specimens will be obtained for genetic analyses, and phenotype data will be collected by interview and from medical records. State-of-the-art genomic technologies will be used to identify common genetic causes of CHD and genetic modifiers of clinical outcome. To accomplish this, the PCGC will develop and maintain a biorepository of specimens (DNA) and genetic data, along with detailed, phenotypic and clinical outcomes data in order to investigate relationships between genetic factors and phenotypic and clinical outcomes in congenital heart disease.

Min Young Jang, Parth Patel, Alexandre C. Pereira, Jon A. L. Willcox, Alireza Haghighi et al. (26 authors)

Circulation Genomic and Precision Medicine2023-05-1115 citations

10.1161/circgen.122.003924

Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity

Sarah U. Morton, Alexandre C. Pereira, Daniel Quiat, Felix Richter, Alexander Kitaygorodsky et al. (20 authors)

Circulation Genomic and Precision Medicine2022-02-078 citations

10.1161/circgen.121.003500

De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease

Marko T. Boskovski, Jason Homsy, Meena Nathan, Lynn A. Sleeper, Sarah U. Morton et al. (33 authors)

Circulation Genomic and Precision Medicine2020-06-3053 citations

10.1161/circgen.119.002836

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

No minimum to 99 Years

Healthy volunteers

No

Inclusion criteria

• Signed consent form

Exclusion criteria

* Isolated patent foramen ovale * Isolated prematurity-associated patent ductus arteriosus

Countries

United Kingdom, United States

Contacts

PRINCIPAL_INVESTIGATORAmy Roberts, MD

Childrens Hospital Boston

PRINCIPAL_INVESTIGATORChristine Seidman, MD

Harvard Medical School, Boston MA

PRINCIPAL_INVESTIGATORBruce Gelb, MD

Mt Sinai School of Medicine, New York NY

PRINCIPAL_INVESTIGATORMartina Brueckner, MD

Yale University

PRINCIPAL_INVESTIGATORMartin Tristani-Firouzi, MD

University of Utah

PRINCIPAL_INVESTIGATORYufeng Shen, PhD

Columbia University Medical Center, New York NY

PRINCIPAL_INVESTIGATORShuo Wang, MD

Children's Los Angeles

Outcome results