cardiomyopathy, dilated, 2E

Cardiomyopathy, dilated, 2E is a severe heart muscle disorder that presents in the neonatal period or early childhood, leading to a dilated left ventricle and diminished heart pumping function. The condition is caused by homozygous or compound heterozygous mutations in the JPH2 gene, which plays a critical role in the structure and function of cardiac muscle cells. Affected individuals typically present with early signs of heart failure, and without intervention such as cardiac transplantation, the condition can progress rapidly. Precise prevalence estimates are not well established, underscoring the rarity and severity of this disorder.

The clinical presentation of cardiomyopathy, dilated, 2E is marked by a consistently present dilated cardiomyopathy and reduced systolic function, both of which are almost always observed in affected individuals. In addition, a subset of patients (between approximately 5% and 29%) may exhibit Ebstein anomaly of the tricuspid valve. Not all individuals experience all features, and severity varies considerably, with early symptoms typically including signs of heart failure that prompt further cardiac evaluation.

This condition is caused by mutations in the JPH2 gene, which encodes junctophilin-2, a protein essential for the proper communication between the cell membrane and the contractile apparatus in heart muscle cells. The disorder follows an autosomal recessive inheritance pattern, meaning that an affected individual inherits two mutated copies of the gene, one from each parent. Families with a history of consanguinity may have an increased likelihood of harboring these mutations, and genetic counseling is recommended to discuss implications and recurrence risks.

Currently, management focuses on supportive care and symptom management tailored to the individual. Given the rapid progression to cardiac failure that characterizes cardiomyopathy, dilated, 2E, patients often require evaluation for cardiac transplantation as part of their treatment plan. A multidisciplinary team, including pediatric cardiologists and cardiac transplant specialists, oversees treatment, and genetic counseling is recommended to discuss family planning and long-term care options. Patients should discuss treatment options with their healthcare team to determine which therapies may be most appropriate for their specific situation.

The course of cardiomyopathy, dilated, 2E is generally severe, with a rapid decline in cardiac function often evident in early childhood. Outcomes can vary widely between individuals, and while many experience a swift progression to cardiac failure, modern advances in cardiac care and the option of transplantation have improved the quality of life for some patients. It is important to recognize that severity and symptoms vary widely between individuals, and outcomes continue to evolve as standards of care improve. Families are encouraged to connect with genetic counselors and specialized cardiac care teams to discuss long-term management and future planning.