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The sarcomere is the basic contractile unit of a cardiac myofibril. It is a multi-protein complex composed of three different filament systems which repeats along the length of the myofibril. These systems include the thick and thin filaments as well as titin and Z disc proteins (Fig 1).

Altered function of proteins of the cardiac sarcomere are the most frequent cause of HCM (Fig 2).

Familial HCM caused by mutations in cardiac sarcomere protein genes

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The sarcomere is the basic contractile unit of a cardiac myofibril. It is a multi-protein complex composed of three different filament systems which repeats along the length of the myofibril. These systems include the thick and thin filaments as well as titin and Z disc proteins (Fig 1).

Altered function of proteins of the cardiac sarcomere are the most frequent cause of HCM (Fig 2).

Familial HCM caused by mutations in cardiac sarcomere protein genes

Click on the links below.

The sarcomere is the basic contractile unit of a cardiac myofibril. It is a multi-protein complex composed of three different filament systems which repeats along the length of the myofibril. These systems include the thick and thin filaments as well as titin and Z disc proteins (Fig 1).

Altered function of proteins of the cardiac sarcomere are the most frequent cause of HCM (Fig 2).

Familial HCM caused by mutations in cardiac sarcomere protein genes

• These are generally inherited as an autosomal dominant trait
• Incomplete penetrance and variable expression is common
• Collectively the causal mutations account for approximately 50-60% of cases
• Over a dozen genes and several hundred mutations have been identified to date
• Many families have unique ('private') mutations
• Approximately 5% of patients have more than one mutation