Clinical features: "Cardiomyopathy" is a general term referring to any condition affecting the heart muscle. ?Hypertrophic cardiomyopathy" is an inherited condition, the most characteristic feature being asymmetric thickening of the left ventricular wall, usually most prominently involving the ventricular septum. Many people with HCM are asymptomatic. Symptoms are otherwise variable and include shortness of breathe, palpitations and blackouts. HCM is the most common cause of sudden death in otherwise healthy people, with an annual mortality of 2 ? 4%.
Prevalence: Recent studies have reported that hypertrophic cardiomyopathy is more common than previously suggested. It is now estimated that approximately 1 in 500 of the UK population has the condition.
Inheritance : Autosomal dominant.
Gene: HCM is a heterogeneous condition, with over 250 mutations in 13 different genes currently identified. DNA testing is not routinely available (2006) but is being developed for clinical use for some HOCM genes.
Prenatal diagnosis: Rarely requested. Possible if a mutation is identified in the affected individual or appropriate DNA linkage studies have been undertaken in the family. A family considering prenatal diagnosis should be referred to the local clinical genetics service prior to a pregnancy. This ensures family members are offered appropriate advice and investigations, to confirm whether or not prenatal diagnosis is possible.
Presymptomatic testing: Essential, using echocardiograms and ECG?s. Pilot studies assessing the usefulness of DNA testing are underway (2006).
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