familial restrictive cardiomyopathy 6

A restrictive cardiomyopathy characterized by prenatal onset of severe restrictive cardiomyopathy predominantly involving the right ventricle, resulting in irreversible heart failure and early death that has_material_basis_in compound heterozygous mutation in

A restrictive cardiomyopathy characterized by prenatal onset of severe restrictive cardiomyopathy predominantly involving the right ventricle, resulting in irreversible heart failure and early death that has_material_basis_in compound heterozygous mutation in the KIF20A gene on chromosome 5q31.

Signs and symptoms

• Restrictive cardiomyopathy
• Tricuspid regurgitation
• Hepatic artery hyperplasia
• Ascites
• Hepatomegaly
• Hydrops fetalis
• Pulmonic regurgitation
• Portal vein hypoplasia
• Pulmonic stenosis

Also known as: RCM6; restrictive cardiomyopathy 6