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.

Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
Background and Environment Affect Phenotype02:27

Background and Environment Affect Phenotype

Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
Cardiomyopathy I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
Gene-Environment Interactions01:20

Gene-Environment Interactions

Gene expression is a dynamic process that is significantly influenced by environmental factors. This interaction underlies the complex nature of biological development and the phenotypic differences observed among individuals, even among those with identical genetic makeups. Factors such as radiation, temperature, behavior, nutrition, and stress play pivotal roles in determining how genes are expressed. The concept of the reaction range is central to understanding this interaction. It posits...
Heritability01:06

Heritability

Heritability is a statistical concept that measures the degree to which genetic differences among individuals contribute to trait variations within a population. It is a fundamental idea in genetics, often prone to misinterpretation. Heritability is expressed as a percentage, reflecting the proportion of variation in a specific trait across a population that can be linked to genetic differences. However, it's important to understand that heritability does not determine how "genetic" a trait is,...