Genetic Heart Disease

Before 1990 very little was known about gene faults which cause heart disease. Thanks to medical research there are more than 40 known heart diseases with genetic causes.

Information Sheets


Molecular Cardiology is the study of genetic heart disorders. Our major goal is to reduce human disease through the integration of basic science research and clinical cardiology.


Our research is focused on understanding the clinical and genetic basis of inherited heart disease. We use a range of approaches including human gene discovery studies, basic cellular systems, animal models of human disease, and population-based psychosocial and public health studies.

Our research involves state-of-the-art approaches including whole exome sequencing, mRNA and microRNA profiling, and RNASeq. Most importantly, we have the key clinical resources, including well phenotyped individual patients and families, which form the basis of all our genetic studies.

To get to this point, we have developed cohorts and national registries of patients and families with inherited heart diseases. We also utilise the latest in genetic technology in order to form the basis of our novel gene discovery studies.


Around 30,000 Australians die every year from sudden cardiac death. Around four young Australians, under the age of 35, die every week from sudden cardiac death.

We know that there are around 40 cardiovascular conditions caused by underlying genetic faults. We all have around 22,000 genes, but a fault in just one can result in a life threatening heart condition.

We can already see our research directly reducing sudden cardiac death in our communities. Our new gene discoveries are being used as improved diagnostic tools, we are rolling out implantable cardioverter defibrillator therapy and we are actively involved in improving public health measures.

Our research is about saving lives, sudden death prevention, and improved diagnosis and management of patients and families with genetic heart diseases.

Genetic Heart Disease facts

  • Since 1990, at least 40 heart conditions that are directly caused by a fault in our genetic make-up have been identified.
  • Every year, 1 in 3 Australians die from some form of cardiovascular disease.
  • Up to 200 young Australians (aged less than 35 years) will die suddenly each year from cardiovascular disease.
  • Direct (child/brother/sister/parent) relatives of people with an inherited heart disease have a 1 in 2 (50%) chance of inheriting the same genetic heart condition.
  • Once a diagnosis is made, other members of the family can be tested and treated, effectively stopping any further deaths from Sudden Cardiac Death in that family line.
  • Professor Chris Semsarian and his team at the Centenary Institute identify faults in key genes that cause genetic heart diseases and sudden death. The long-term aim of Centenary Institute’s work is to be able to switch off the faulty dominant gene that causes genetic heart disease.
  • Approximately 30% of deaths occurring in people less than 35 years of age are listed as “undetermined” where the heart appears normal at post mortem. Professor Semsarian believes that often the cause of death will be an electrical disorder such as Long QT Syndrome.
  • Hypertrophic Cardiomyopathy or HCM, which leads to a thickening of the heart muscle, is the most common form of genetic heart disease, affecting 1 in every 500 Australians.