The Genetic Basis of Congenital Heart Disease in Africa
| Status: | Recruiting |
|---|---|
| Conditions: | Peripheral Vascular Disease, Peripheral Vascular Disease, Cardiology, Cardiology |
| Therapuetic Areas: | Cardiology / Vascular Diseases |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 3/5/2016 |
| Start Date: | September 2013 |
| End Date: | September 2018 |
| Contact: | Paul S Kruszka, M.D. |
| Email: | kruszkaps@mail.nih.gov |
| Phone: | (301) 402-9654 |
The International Genetic Basis of Congenital Heart Disease Study
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.
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.
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.
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.
- INCLUSION CRITERIA:
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 (performed by C.S., A.B. or E.E.), physical examination, medical history,
and review of medical record.
EXCLUSION CRITERIA:
Anyone unwilling to provide informed consent (for themselves as adults, or on behalf of
their children as minors) or assent.
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