Christopher Semsarian

Biography

Professor Christopher (Chris) Semsarian is an internationally renowned cardiologist and scientist studying genetic heart disease and sudden death and the management of individuals and families with or at risk of inherited cardiac disorders. He is the Director of the Genetic Heart Disease and Hypertrophic Cardiomyopathy Clinic at Royal Prince Alfred Hospital, Sydney and Director of the Australian Genetic Heart Disease Registry. Professor Semsarian’s research focuses on identifying new genes in cardiovascular disease, elucidating the molecular basis of how these genes lead to clinical manifestations, and evaluating the role of modifying factors in clinical disease development and progression. He established and heads the Molecular Cardiology Program at the Centenary Institute, University of Sydney. In 2003, he established Australia’s first tertiary referral multi-disciplinary Genetic Heart Disease and Hypertrophic Cardiomyopathy Clinic which receives referrals from around Sydney and regional NSW. The clinic and the Molecular Cardiology Program serve as a national centre of research and clinical excellence in genetic heart disease and sudden death, by combining management and prevention of sudden death in at-risk families, with cutting-edge research in the field, and where basic molecular research results have translated to advances in clinical care. He has co-authored many of the best practice Australian and international guidelines on genetic heart diseases, sudden death and genetic testing. In 2008 Professor Semsarian’s team established the Australian Genetic Heart Disease Registry www.heartregistry.org.au, which is a major database and patient support initiative involving collaboration between all States and territories that aims to enroll every Australian family with genetic heart disease. With >1000 families currently enrolled, the registry covers all known genetic heart conditions, and is the only such registry worldwide.

Research Interest

Professor Semsarian studies the molecular, genetic, clinical and translational aspects of cardiovascular disorders that have a genetic basis, with a particular interest in investigation and prevention of cardiomyopathies and sudden cardiac death in the young. He is an international expert in sudden death and its genetic evaluation. By bridging the interface between basic research and clinical practice, he has helped prevent the complications of genetic heart disease in the community. His research has identified new genes involved in hypertrophic cardiomyopathy, and the mechanism of associated cardiac muscle impairment. The discovery that some families with severe hypertrophic cardiomyopathy carried mutations in two genes associated with the disease led a paradigm shift in the understanding of genetic diseases and has resulted in improved diagnosis, therapies to prevent complications, and risk-management strategies to prevent heart failure and sudden death in at-risk individuals. Professor Semsarian contributed to an international study demonstrating a significantly reduced risk of sudden death associated with ICD implantation in children and adolescents with hypertrophic cardiomyopathy. His team has demonstrated the usefulness of exome sequencing in the post-mortem setting to investigate the cause of sudden death in the young.