Family matters

Hypertrophic cardiomyopathy (HCM) is an inherited disease of the heart muscle, where the muscle wall of the heart becomes thickened. Up to 1 in 200 of the general population are affected by HCM.

HCM is a genetic condition caused by a change or mutation in one or more genes and is passed on through families. Many people with HCM never have any symptoms. Tragically, in some cases the first sign of the disease is sudden death. Because of this, family screening is recommended to relatives throughout life.

Centenary’s Dr Jodie Ingles and Professor Chris Semsarian AM, Molecular Cardiology Program, have co-authored an editorial piece published in Circulation: Genomics and Precision Medicine commenting on hypertrophic cardiomyopathy family screening.

The editorial comments on outcomes of family screening, current understandings of HCM and concludes by saying ‘We are living through an exciting period of discovery and remarkable advances in genetic technologies. Providing greater certainty and potentially finding a path to more precision-based management of relatives will have immeasurable benefit to families.’ Read the full editorial.

If you have a close relative with hypertrophic cardiomyopathy, it is important that you visit a cardiologist and undergo clinical screening. Direct family members include children, brothers and sisters, and parents.

Dr Ingles and Professor Semsarian, of the Molecular Cardiology Program at Centenary carry out vital research to increase current understanding of the causes of sudden cardiac death and genetic heart diseases in young people. They lead the Australian Genetic Heart Disease Registry.

The program integrates gene discovery; basic science; clinical cardiology and public health strategies to better understand genetic heart conditions that can lead to sudden cardiac death. Their vision is to improve on existing diagnostic and therapeutic approaches for genetic heart diseases and ultimately prevent sudden cardiac death. Visit our website to learn more about the program’s work and to learn more about HCM visit the Australia Genetic Heart Disease Registry.