Families with inherited cardiac conditions
Patients with a suspected ICC should be referred to a specialist ICC service to ensure they benefit from the latest developments in genomic medicine.
Most ICCs are autosomal dominant, meaning that immediate family members have a 50% chance of inheriting the same condition.
Genetic testing can be used to determine the risk to the patient’s family members; this is known as cascade testing.
Treatment and management of cardiac conditions
For some inherited cardiac conditions, treatment can be refined when we understand the precise molecular basis of an individual’s condition. For example, those with inherited arrhythmia may receive treatment tailored to the genetic cause.
Increasingly, other cardiological treatment can also be chosen in accordance with an individual’s genetics. For example, genetic testing can determine whether an individual will be resistant to clopidogrel, or has an elevated risk of developing statin myopathy.
Genetic information can be used to intervene early. For example, adopting a favourable lifestyle has been shown to reduce coronary disease risk by around 50% even in the presence of a high genetic predisposition.
Understanding the genetic basis of disease can give us an insight into the molecular mechanisms and pathways involved, which can allow us to develop new treatment strategies. For example, specific disease-modifying targeted therapies are in phase 3 trials in both dilated and hypertrophic cardiomyopathies.
Inherited conditions can serve as genetic models for more common forms of disease. For example, PCSK9 inhibitors – a new class of lipid lowering therapy – were developed as a result of studies into familial hypercholesterolaemia.
New genome technologies are also offering the promise of new therapies through gene repair or replacement.