Rare genetic cardiovascular diseases, also called ‘inherited cardiac conditions’, when considered together affect around 1% of the population. As a group they carry a unique susceptibility to sudden death at a young age, usually occurring in otherwise healthy people. They are therefore among the most devastating of rare diseases for affected families. These conditions may affect the functioning of the heart muscle (cardiomyopathies), the regulation of the heart beat (arrhythmias) or cause weakness of major blood vessels (aortopathies). The treatments for these conditions are onerous and in themselves risky: for example the implantation of devices in the body to restart the heart in the event of a sudden cardiac arrest carries a risk of infection and the need for lifelong close followup.

Congenital heart disease, where a baby is born with a structural abnormality of the heart, remains a significant cause of childhood death, may require repeated surgical operations, and sometimes leads to ongoing ill health in adult life together with a shorter lifespan. There is a substantial genetic component to the risk of congenital heart disease. The number of adults with congenital heart disease is increasing substantially as more people with the condition survive childhood.

The lymph vessels are a part of the circulatory system of the body with roles in preventing the congestion of body tissues with fluid, and the functioning of the immune system. Genetic abnormalities of these vessels lead to severe problems with swelling of the limbs. Certain genetic conditions may affect the small blood vessels within the brain and lead to devastating strokes, often at young ages.

A substantial proportion of people with genetic cardiovascular diseases do not have the causative gene for their condition identified. Such genetic diagnoses may inform treatment options, lifestyle choices, and are particularly important in assessing the risk to family members, who otherwise may live many years with uncertainty about their own health and the health of their families.

We will work with the 100,000 Genomes Project data to provide genetic diagnoses to participants. We comprise a diverse group of people who together have expertise in all aspects of genetic cardiovascular disease, from patient care to basic laboratory science. We will harness this expertise to discover new genes in 100,000 Genomes patients, find out how those genes contribute to risk, and look for ways to use that information in best helping families to live with their inherited cardiovascular disease.

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