CARDIAC GENETICS

DNA change within individual genes can cause disease of the heart and blood vessels, as can chromosome abnormalities.

In our clinic we work with patients referred from cardiac services to provide specialist genetic heart clinics.  In general, we see;

  • individuals and families affected by, or with a family history of, inherited heart conditions or sudden cardiac death.

  • patients with heart complications which form part of a multi-system genetic condition or syndrome.

Typical cardiac abnormalities we see include patients with;

  • cardiomyopathy

  • aortic outlet disease, or other aortic abnormality

  • arrhythmia

  • abnormal ECG profiles

NOTE: Inherited heart conditions may affect both children and adults. 

How Predictive Genetic Testing can Significantly Help Family Members

Not all patients will have a family history indicative of an underlying genetic disorder but the identification of a genetic basis to these symptoms in a patient affords a means of identifying others in the family who are at risk of developing similar symptoms by virtue of a shared genetic mutation.  Such information, known as “predictive testing” enables at risk patients to be 

  1. entered into early preventative management programmes and 

  2. have regular monitoring for particular symptoms to which they are genetically predisposed.

Our Expertise

A wide range of conditions are covered, including;

  • Hypertrophic cardiomyopathy

  • Familial dilated cardiomyopathy

  • Arrhythmogenic right ventricular cardiomyopathy

  • Long QT syndrome

  • Brugada syndrome

  • Catecholaminergic polymorphic ventricular tachycardia (CPVT)

  • Sudden cardiac death

  • Familial aortic aneurysm and dissection

  • Marfan syndrome

  • Familial congenital heart disease

  • Other connective tissue disease syndromes