The Genetic Basis of Congenital Heart Disease in Africa

NCT01952171 | Completed

• 2 other identifiers: 99991320713-HG-N207
• Study Type: observational
• Target: 1,233
• Locations: 3 countries
• Sites: 3

Brief Summary

Recent advances in genomic techniques are making possible a new wave of genetic discovery in congenital heart disease (CHD). Existing data suggests that CHD occur in Sub-Saharan Africa at frequencies similar to the rest of the world. In this application, we propose to utilize the unique advantages of Sub-Saharan Africa - a combination of the most genetically diverse populations in the world and of diminished environmental background effects (i.e. low prevalence of smoking, alcohol abuse, obesity in comparison to western countries) - to better understand the genetic basis for congenital heart disease. We will couple next generation genomic techniques with more traditional gene discovery methods to investigate CHD in two African countries: Uganda and Nigeria. The inclusion of syndromic and non-syndromic CHD observed in these populations as well as careful phenotyping (including echocardiography) will greatly enhance our potential to provide insight into the genetic architecture of CHD in African populations. To accomplish this, we plan to enroll families, in whom members have congenital heart malformations consistent with an error of early human development in our research protocol. Patients will be enrolled at the Uganda Heart Institute in Kampala, Uganda, and at the Department of Pediatrics, College of Medicine, University of Lagos, Nigeria, with the potential to include other African sites. High throughput genomic studies will be done at the NIH....

Conditions

Heart Disease; Congenital Heart Disease

Keywords

Genomics; Birth Defects; Congenital Heart Disease; Natural History

Outcome Measures

Primary Outcomes (1)

• Genetic Diagnosis

  The primary outcome is a genetic diagnosis for congenital heart disease. There are no treatments.

  One patient visit only

Study Arms (1)

Congenital Heart Disease

Congenital Heart Disease

Eligibility Criteria

• Age: 1 Month - 115 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The study will include affected individuals and their affected/or unaffected family members. Family members will include parents and siblings. The goal will to be obtaining a minimum of a trio (affected and both parents) to increase probability of finding gene mutations. Clinical criteria for inclusion is defined as presence of a congenital cardiac malformation related to errors in early human development. The diagnosis of congenital heart disease (presence of a congenital cardiac malformation thought to be related to errors in early human development) will be made by a cardiologist on our team based on echocardiogram, physical examination, medical history, and review of medical record.

You may not qualify if:

• Anyone unwilling to provide informed consent (for themselves as adults, or on behalf of their children as minors) or assent.

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI): lead
• University of Lagos, Nigeria: collaborator
• Uganda Heart Institute: collaborator

Study Sites (3)

Childrens National Medical Center

Washington D.C., District of Columbia, 20010, United States

Location

College of Medicine, University of Lagos

Lagos, Nigeria

Location

Chiang Mai University

Chiang Mai, Thailand

Location

Related Publications (1)

• Ekure EN, Adeyemo A, Liu H, Sokunbi O, Kalu N, Martinez AF, Owosela B, Tekendo-Ngongang C, Addissie YA, Olusegun-Joseph A, Ikebudu D, Berger SI, Muenke M, Han Z, Kruszka P. Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa. Circ Genom Precis Med. 2021 Feb;14(1):e003108. doi: 10.1161/CIRCGEN.120.003108. Epub 2021 Jan 15.

  PMID: 33448881 DERIVED

MeSH Terms

Conditions

Heart Defects, Congenital; Heart Diseases; Congenital Abnormalities

Condition Hierarchy (Ancestors)

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

Study Officials

• Adebowale A Adeyemo, M.D.

  National Human Genome Research Institute (NHGRI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 24, 2013
• First Posted: September 27, 2013
• Study Start: September 17, 2013
• Primary Completion: June 22, 2021
• Last Updated: May 7, 2026

Record last verified: 2026-05-05

Locations

US (1); TH (1); NG (1)