Genetic Heart Disease

  • Genetic and Congenital Heart disease

    Congenital heart disease is usually something identified early in life and may have a genetic or inherited basis. There are a number of genetic disorders which are associated with an increased risk of congenital heart disease – Downs’ syndrome being the most well-known – but there are many others. In the era of foetal medicine, assisted by increasingly sophisticated ultrasound equipment, these conditions can be diagnosed earlier in life and in some cases treated before birth.

    Increasingly we recognise a genetic contribution to heart disease in adults. Cardiologists treating patients with heart disease are mindful that these conditions can affect other members of the family. Taking a careful family history and informing the patient of the implications of their condition for other family members is a key part of our practice.

    Structural heart disease such as aortic dissection and aneurysms, valvular heart disease (bicuspid aortic valve, mitral valve prolapse), atrial septal defects, non-compaction of the left ventricle, as well as hypertrophic, dilated and arrhythmogenic right ventricular cardiomyopathy, can have a genetic basis.

    Cardiac arrhythmias such as atrial fibrillation and ventricular tachycardia are common in patients with structural heart disease but may have a genetic contribution of their own. However, many types of genetic cardiac arrhythmias occur in patient whose hearts appear to be structurally normal but have electrical (electrophysiological) disorders leading to atrial fibrillation, channelopathies (Long QT, Short QT, Brugada syndrome) and many other clinically important cardiac arrhythmias.

    We are directly and indirectly involved in a number of clinical and basic research studies in congenital and genetic heart diseases which include: aortic disease with an emphasis on Marfan syndrome and TAAD (Familial Thoracic Aneurysm and Dissection, bicuspid aortic valve and hypertrophic cardiomyopathy. We have a close relationships with the both the Marfan and Hypertrophic Cardiomyopathy clinics at Royal Prince Hospital as well as the Centenary Institute ( ) which form a key part of our roles in teaching, research and clinical practice in Cardiology.

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