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Published on: August 8, 2022
Cardiomyopathy in Africa: heredity versus environment
Bongani M Mayosi1, Krishna Somers
1Department of Medicine, University of Cape Town, Groote Schuur Hospital, Cape Town.
Insights
Heart muscle disease, including dilated cardiomyopathy (DCM) and endomyocardial fibrosis (EMF), is common in Africa. Research highlights genetic factors in DCM and environmental/infective factors in EMF, urging further study.
Area of Science:
- Cardiology
- Genetics
- Epidemiology
Background:
- Cardiomyopathy is prevalent in Africa, with dilated cardiomyopathy (DCM) and endomyocardial fibrosis (EMF) being major forms.
- DCM is a significant cause of heart failure continent-wide, while EMF is geographically restricted to tropical regions.
- Other cardiomyopathies like hypertrophic and arrhythmogenic right ventricular cardiomyopathy appear similar to global presentations.
Purpose of the Study:
- To review the epidemiology and pathogenesis of cardiomyopathies in Africa.
- To highlight the genetic heterogeneity of DCM and the potential factors contributing to EMF.
- To emphasize the need for further research into the causes of prevalent heart muscle diseases in Africa.
Main Methods:
- Review of existing epidemiological and genetic studies on cardiomyopathy in Africa.
- Analysis of the known genetic and non-genetic factors implicated in DCM and EMF.
- Discussion of the role of HIV infection and inflammatory agents in DCM pathogenesis.
Main Results:
- DCM in Africa shows genetic heterogeneity, with both Mendelian and multifactorial causes, similar to global findings.
- HIV infection underscores the role of inflammatory agents in DCM.
- EMF pathogenesis is not fully understood, with geography, potential infective agents, and eosinophilia as proposed factors, but limited evidence for genetic links.
Conclusions:
- Further investigation is crucial to identify genetic and non-genetic factors contributing to EMF and other cardiomyopathies prevalent in Africa.
- Understanding these factors is essential for developing targeted prevention and treatment strategies for heart muscle diseases in the African population.
Abstract:
Unlike other parts of the world in which cardiomyopathy is rare, heart muscle disease is endemic in Africa. The major forms of cardiomyopathy in Africa are dilated cardiomyopathy (DCM) and endomyocardial fibrosis (EMF). Whereas DCM is a major cause of heart failure throughout the continent, EMF is restricted to the tropical regions of East, Central, and West Africa. Although epidemiological studies are lacking, hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy seem to have characteristics similar to those of other populations elsewhere in the world. Recent advances in the genetic analysis of DCM in other parts of the world indicate that it is a genetically heterogeneous disorder in which some cases have a Mendelian cause and others have a non-genetic or multifactorial cause. This heterogeneous pattern of inheritance has been confirmed in small studies that have been conducted so far in Africa. The advent of human immunodeficiency virus infection and its association with cardiomyopathy has emphasised the role of inflammatory agents in the pathogenesis of DCM. By contrast with DCM in which some cases have major genetic contributions, there is scanty evidence for the role of genetic factors in the aetiology of EMF. Although the pathogenesis of EMF is not fully understood, it appears that the conditioning factor may be geography (in its widest sense, to include climate and socio-economic status), the triggering factor may be an as yet unidentified infective agent, and the perpetuating factor may be eosinophilia. There is a need for renewed effort to identify genetic and non-genetic factors in EMF and other forms of heart muscle disease that are prevalent on the continent of Africa.
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