Congenital Heart Disease GEnetic NEtwork Study (CHD GENES)

NCT01196182 | Active Not Recruiting DMC

• 8 other identifiers: 7015U01HL098188-03U01HL098188U01HL098147U01HL098163U01HL098153U01HL098123U01HL098162
• Study Type: observational
• Target: 32,000
• Locations: 2 countries
• Sites: 15

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.

Conditions

Congenital Heart Defects

Eligibility Criteria

• Age: Up to 99 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

While all patients with pediatric cardiovascular disease and adults with congenital heart disease are of interest, the study will initially focus on four CHD anatomic classifications: * Atrial septal defects * Conotruncal abnormalities * Left-sided obstructive lesions * Heterotaxy Whenever possible, the study will recruit "trios" of participants--children, mothers and fathers-- as well as extended family members when appropriate and feasible.

You may qualify if:

• Signed consent form

You may not qualify if:

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

Sponsors & Collaborators

• Children's Hospital Medical Center, Cincinnati: lead
• National Heart, Lung, and Blood Institute (NHLBI): collaborator

Study Sites (15)

Children's Hospital Los Angeles

Los Angeles, California, 90027, United States

Location

Stanford University

Palo Alto, California, 94304, United States

Location

University of California, San Francisco

San Francisco, California, 94158, United States

Location

Yale University

New Haven, Connecticut, 06520, United States

Location

Children's Healthcare of Atlanta

Atlanta, Georgia, 30342, United States

Location

Brigham & Women's Hospital

Boston, Massachusetts, 02115, United States

Location

Children's Hospital Boston

Boston, Massachusetts, 02115, United States

Location

University of Michigan Health

Ann Arbor, Michigan, 48109, United States

Location

Cohen Children's Medical Center New York

New Hyde Park, New York, 11040, United States

Location

Mount Sinai School of Medicine

New York, New York, 10029, United States

Location

Columbia University Medical Center

New York, New York, 10032, United States

Location

University of Rochester

Rochester, New York, 14642, United States

Location

Children's Hospital Philadelphia

Philadelphia, Pennsylvania, 19104, United States

Location

University of Utah

Salt Lake City, Utah, 84113, United States

Location

University College London

London, WC1N3JH, United Kingdom

Location

Related Publications (6)

• Jang MY, Patel PN, Pereira AC, Willcox JAL, Haghighi A, Tai AC, Ito K, Morton SU, Gorham JM, McKean DM, DePalma SR, Bernstein D, Brueckner M, Chung WK, Giardini A, Goldmuntz E, Kaltman JR, Kim R, Newburger JW, Shen Y, Srivastava D, Tristani-Firouzi M, Gelb BD, Porter GA Jr, Seidman CE, Seidman JG. Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease. Circ Genom Precis Med. 2023 Jun;16(3):224-231. doi: 10.1161/CIRCGEN.122.003924. Epub 2023 May 11.

  PMID: 37165897 DERIVED

• Morton SU, Pereira AC, Quiat D, Richter F, Kitaygorodsky A, Hagen J, Bernstein D, Brueckner M, Goldmuntz E, Kim RW, Lifton RP, Porter GA Jr, Tristani-Firouzi M, Chung WK, Roberts A, Gelb BD, Shen Y, Newburger JW, Seidman JG, Seidman CE. Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity. Circ Genom Precis Med. 2022 Apr;15(2):e003500. doi: 10.1161/CIRCGEN.121.003500. Epub 2022 Feb 7.

  PMID: 35130025 DERIVED

• Oluwafemi OO, Musfee FI, Mitchell LE, Goldmuntz E, Xie HM, Hakonarson H, Morrow BE, Guo T, Taylor DM, McDonald-McGinn DM, Emanuel BS, Agopian AJ. Genome-Wide Association Studies of Conotruncal Heart Defects with Normally Related Great Vessels in the United States. Genes (Basel). 2021 Jul 1;12(7):1030. doi: 10.3390/genes12071030.

  PMID: 34356046 DERIVED

• Lahrouchi N, Postma AV, Salazar CM, De Laughter DM, Tjong F, Piherova L, Bowling FZ, Zimmerman D, Lodder EM, Ta-Shma A, Perles Z, Beekman L, Ilgun A, Gunst Q, Hababa M, Skoric-Milosavljevic D, Stranecky V, Tomek V, de Knijff P, de Leeuw R, Robinson JY, Burn SC, Mustafa H, Ambrose M, Moss T, Jacober J, Niyazov DM, Wolf B, Kim KH, Cherny S, Rousounides A, Aristidou-Kallika A, Tanteles G, Ange-Line B, Denomme-Pichon AS, Francannet C, Ortiz D, Haak MC, Ten Harkel AD, Manten GT, Dutman AC, Bouman K, Magliozzi M, Radio FC, Santen GW, Herkert JC, Brown HA, Elpeleg O, van den Hoff MJ, Mulder B, Airola MV, Kmoch S, Barnett JV, Clur SA, Frohman MA, Bezzina CR. Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy. J Clin Invest. 2021 Mar 1;131(5):e142148. doi: 10.1172/JCI142148.

  PMID: 33645542 DERIVED

• Sharma A, Wasson LK, Willcox JA, Morton SU, Gorham JM, DeLaughter DM, Neyazi M, Schmid M, Agarwal R, Jang MY, Toepfer CN, Ward T, Kim Y, Pereira AC, DePalma SR, Tai A, Kim S, Conner D, Bernstein D, Gelb BD, Chung WK, Goldmuntz E, Porter G, Tristani-Firouzi M, Srivastava D, Seidman JG, Seidman CE; Pediatric Cardiac Genomics Consortium. GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm. Elife. 2020 Oct 15;9:e53278. doi: 10.7554/eLife.53278.

  PMID: 33054971 DERIVED

• Boskovski MT, Homsy J, Nathan M, Sleeper LA, Morton S, Manheimer KB, Tai A, Gorham J, Lewis M, Swartz M, Alfieris GM, Bacha EA, Karimi M, Meyer D, Nguyen K, Bernstein D, Romano-Adesman A, Porter GA Jr, Goldmuntz E, Chung WK, Srivastava D, Kaltman JR, Tristani-Firouzi M, Lifton R, Roberts AE, Gaynor JW, Gelb BD, Kim R, Seidman JG, Brueckner M, Mayer JE Jr, Newburger JW, Seidman CE. De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease. Circ Genom Precis Med. 2020 Aug;13(4):e002836. doi: 10.1161/CIRCGEN.119.002836. Epub 2020 Jun 30.

  PMID: 32812804 DERIVED

Related Links

• Click here for more information about the entire Bench to Bassinet program.

Biospecimen

Retention: SAMPLES WITH DNA

Blood; possibly saliva and tissue.

MeSH Terms

Conditions

Heart Defects, Congenital

Condition Hierarchy (Ancestors)

Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Amy Roberts, MD

  Childrens Hospital Boston

  PRINCIPAL INVESTIGATOR

• Christine Seidman, MD

  Harvard Medical School, Boston MA

  PRINCIPAL INVESTIGATOR

• Bruce Gelb, MD

  Mt Sinai School of Medicine, New York NY

  PRINCIPAL INVESTIGATOR

• Martina Brueckner, MD

  Yale University

  PRINCIPAL INVESTIGATOR

• Martin Tristani-Firouzi, MD

  University of Utah

  PRINCIPAL INVESTIGATOR

• Yufeng Shen, PhD

  Columbia University Medical Center, New York NY

  PRINCIPAL INVESTIGATOR

• Shuo Wang, MD

  Children's Los Angeles

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 3, 2010
• First Posted: September 8, 2010
• Study Start: November 15, 2010
• Primary Completion (Estimated): December 1, 2032
• Study Completion (Estimated): December 1, 2032
• Last Updated: January 30, 2026

Record last verified: 2026-01

Locations

GB (1); US (14)