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Cardiomyopathy Familial Hypertrophic

Cardiomyopathy Familial Hypertrophic

OMIM number: 613765

Comments closing date: 09/04/2019

TTN associated cardiomyopathy is a hereditary condition of the heart muscle that affects the ability of the heart to pump blood effectively around the body. The left ventricle (the main pumping chamber) becomes enlarged and the muscle wall becomes thinner and weaker. As the heart becomes progressively weaker, symptoms of heart failure including tiredness can develop. Fluid can accumulate in the lungs causing breathlessness and persistent cough and in the legs and abdomen causing ankle and sometimes abdominal swelling. Other features such as palpitations, dizziness and fainting can also be present. Heart transplant is necessary in some patients with severe heart failure that is unresponsive to medical treatment. Dilated cardiomyopathy due to inherited faults in the TTN gene is inherited in an autosomal dominant manner, meaning that there is a 50% chance that any children of an affected individual will in inherit the altered TTN gene that causes the condition. Both men and women can develop TTN associated cardiomyopathy.

Review date: 12 March 2021