dilated cardiomyopathy 2C

A dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that has_material_basis_in homozygous or compound heterozygous mutation in the PPCS gene on chromosome 1p34.

Signs and symptoms

• Dilated cardiomyopathy
• Increased circulating lactate concentration
• Reduced left ventricular ejection fraction
• Hypotonia
• Pulmonary arterial hypertension