Inherited Cardiac Conditions

Hypertrophic cardiomyopathy is one of the most common inherited cardiac conditions, affecting between 1 in 200 and 1 in 500 of the population. And more people lose their lives each year in the UK from aortic dissection than in road traffic accidents.

Cardiomyopathy

Genetic testing can provide diagnostic information and exclude phenocopies of disease, but most importantly can help to streamline screening of first-degree relatives. Dilated cardiomyopathy also represents a common condition, and genetic testing can help to tailor treatment and patient selection for device therapy.

At present genetic testing is performed (in the vast majority of cases) by Cardiologists in tertiary centre ICC clinics. By increasing genetic testing by colleagues in referring centres we can ensure equitable access for patients and improve delivery of care, especially for patients who are not referred or unable to travel to tertiary centres. Clear phenotypic diagnosis can be supported through our tertiary centre Heart Muscle MDT for imaging review prior to testing for more complex cases.

Aortopathy

Awareness of the potential inherited nature of aortic aneurysm/dilatation and dissection, seems to be less when compared to other ICC categories. Aortic dissection, which is associated with high mortality, is often mis-diagnosed, and the incidence of genetic testing is low, even though it has major implications for family members. In line with the national move to raise aortopathy awareness, this CoP will support education, upskilling and awareness-raising across the East region.