Inherited heart conditions fall into three main groups – those that affect the heart muscle called cardiomyopathies, heart rhythm disorders including long QT syndrome and blood vessel or artery problems called aortopathies, including Marfan syndrome. We see many patients in our clinics with these problems and undertake genetic testing to find the specific cause.
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is a rare inherited heart rhythm disorder. Individuals with this condition can have palpitations, blackouts and in some situations it can result in sudden death in otherwise healthy, often young people. CPVT is due to changes in a large gene called RYR2. Our laboratory has been testing this gene in individuals with heart rhythm problems for over 10 years.
We are undertaking projects to understand the variants in RYR2 and how these cause rhythm problems using many approaches including genetic classification and induced pluripotent stem cell (iPSC) studies where we can transform skin or blood cells into beating heart cells that we can study in the laboratory.
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy)
CADASIL is a rare inherited disorder, which results in changes in the small blood vessels in the brain causing early onset stroke and dementia. Prof Wang’s team is also using iPSC studies to understand the cause of this disorder in more detail and how changes in the NOTCH3 gene can lead to blood vessel problems.
