cardiomyopathy, dilated, 2c

Cardiomyopathy, dilated, 2c is a form of heart muscle disease primarily characterized by an enlarged and weakened heart. This condition arises from homozygous or compound heterozygous mutations in the PPCS gene, which disrupts normal cardiac function. The onset of symptoms varies, with most individuals developing signs between the ages of 2 and 20 years. Although precise prevalence estimates are not available, the severity of the clinical picture can vary considerably between affected individuals.

The hallmark feature of this condition is dilated cardiomyopathy, which is invariably present. In addition, a significant proportion of affected individuals exhibit hypotonia and increased circulating lactate concentrations, noted in approximately 30 to 79% of cases, while a smaller subset, about 5 to 29%, may develop pulmonary arterial hypertension. Not all individuals experience every feature, and the degree of muscle weakness and cardiac impairment can range from mild to more severe presentations.

This condition is caused by mutations in the PPCS gene, which is essential for normal cellular function in the heart. It follows an autosomal recessive pattern of inheritance, meaning that an individual must inherit two mutated copies of the gene, one from each parent, to be affected. Families with a history of this condition may benefit from genetic counseling, as each sibling of an affected individual has a 25% chance of being affected, while others may be carriers without showing symptoms.

Currently, management focuses on supportive care and symptom management. Treatment is tailored to the individual and usually involves a multidisciplinary team that may include cardiologists, genetic counselors, and other specialists. In the absence of specific foundational therapies or approved treatments, regular surveillance is an essential part of long-term care, with ongoing monitoring to identify any emerging complications. Patients are encouraged to discuss treatment options with their healthcare team to determine the approach best suited to their condition.

Outcomes in cardiomyopathy, dilated, 2c vary considerably among affected individuals. With current standards of care, many individuals manage their condition well into adolescence and beyond, although the progression of cardiac dysfunction and associated features differs widely. Severity and symptoms vary widely between individuals, and outcomes described in medical literature continue to evolve as standards of care improve. Patients and families are encouraged to connect with specialists and genetic counselors for personalized guidance on prognosis and management.