Genetic screening in hypertrophic cardiomyopathy

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Hypertrophic cardiomyopathy is transmitted through genes and can affect children and family members. For this reason, new genetic screening methods have now emerged that can help pick up cases early. In turn, treatment options can be offered to individuals sooner rather than later.

How common is hypertrophic cardiomyopathy?

It is believed that 1 out of 500 people have this condition.

The genetics of hypertrophic cardiomyopathy

In order to understand genetic screening in hypertrophic cardiomyopathy,  it is important to have a basic understanding of how the disease is transmitted.

What are genes?

Within the body are present millions of cells. Each of these cells  is filled with cytoplasmic material and a central nucleus. Also present within the cell is genetic material  which is unique to each and every individual.  This genetic material is what is called ‘genes’.

The genetic material within each cell is arranged side-by-side to each other to form a chromosome. Each of us have 46 chromosomes in each cell. These are arranges in pairs of 23 in total.

The image below shows how we inherit genes from our parents.

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Genetic transmission in hypertrophic cardiomyopathy

The transmission of genes from a patient with hypertrophic cardiomyopathy to their children occurs in what is known as an ‘autosomal dominant’ fashion.

Autosomal dominant inheritance is simple to understand. If for example, an individual suffers from  hypertrophic cardiomyopathy  and has two children,  autosomal dominant inheritance  dictates that one child out of the two is likely to have the condition. In other words, the inheritance is 50%.

Gender dependency from chromosomes.
Inheritance of hypertrophic cardiomyopathy. In this example, the affected mother transmits the gene (marked by an arrow) to two of her children (also marked by an arrow). The 2 other children do not develop the condition.

Clinical research has currently shown that nearly 18 different kinds of genes are responsible for the development of this condition.  Amongst those genes, over 500 mutations have been identified. Nearly 6/10 patients with hypertrophic cardiomyopathy bear these  mutations. Most of these mutations are seen in two primary components – the beta-myosin heavy chain and the myosin building protein-C.

Performing genetic screening

Individuals whose family members have hypertrophic cardiomyopathy will benefit from genetic screening. When going through the family history, the medical professional will first inquire whether or not the patient has symptoms. If an individual has symptoms, than a simple blood test for genetic screening will be sufficient to diagnose the presence of genetic abnormalities.

Dr Vivek Baliga B
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