cardiomyopathy, familial restrictive, 6

Familial restrictive cardiomyopathy, 6 is an inherited disorder that primarily affects the heart and liver. Characteristic features include a restrictive form of cardiomyopathy along with associated heart valve abnormalities, and several hepatic findings. Genetic studies have identified variants in the KIF20A gene as the underlying cause, and the condition follows an autosomal recessive pattern. Although precise prevalence figures are not available, it is recognized as an uncommon condition that may present prenatally or in early childhood.

The clinical presentation of this condition involves abnormalities in both the cardiac and hepatic systems. Cardiac features that are always observed include restrictive cardiomyopathy and tricuspid regurgitation, with many affected individuals also experiencing pulmonic regurgitation and pulmonic stenosis. Hepatic involvement is indicated by findings such as ascites, hepatomegaly, hepatic artery hyperplasia, and portal vein hypoplasia, while a significant proportion may also present with hydrops fetalis before or shortly after birth. Not all individuals experience every feature, and severity varies considerably.

This condition is caused by variants in the KIF20A gene. Although detailed molecular mechanisms have not been fully described, KIF20A is believed to play a role in intracellular transport and cell division. The disorder is inherited in an autosomal recessive pattern, meaning that an affected individual has received one altered copy from each parent. Families with a shared ancestry may be at a higher risk, and genetic counseling is recommended to help understand inheritance and options for future family planning.

Currently, management focuses on supportive care and symptom management, with treatment tailored to the needs of each individual. Because there are no treatments specifically approved for this condition, care typically involves a multidisciplinary approach with regular surveillance to monitor for cardiac and hepatic complications. This comprehensive management strategy may include routine cardiac evaluations and assessments by hepatology specialists, along with genetic counseling to support family planning. Patients should discuss available options with their healthcare team to determine the best individualized approach.

The long-term outlook for individuals with familial restrictive cardiomyopathy, 6 is variable and depends on the extent of cardiac and hepatic involvement. With current standards of care and ongoing multidisciplinary monitoring, many individuals manage their symptoms effectively into adulthood, although the course of the condition may include periods of stability interspersed with episodes of progression. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists familiar with this condition, and genetic counseling is recommended to guide further decision-making.