dilated cardiomyopathy 1CC

Dilated cardiomyopathy 1CC is a form of familial isolated dilated cardiomyopathy that primarily affects the heart’s ability to pump efficiently. It is caused by a mutation in the NEXN gene, which plays an important role in the structure and function of cardiac muscle cells. The condition is inherited in an autosomal dominant manner, meaning that a single altered copy of the gene is sufficient to contribute to disease development. Although precise prevalence estimates are not available, it is recognized as a condition identified within familial settings.

The clinical features of dilated cardiomyopathy 1CC are centered on heart function. Characteristically, affected individuals exhibit a reduced left ventricular ejection fraction, increased left ventricular end‐diastolic volume, and the presence of dilated cardiomyopathy – findings that are observed in all reported cases. These features often lead to evaluation and diagnosis when individuals present with signs of heart failure or reduced exercise tolerance. That not all individuals experience all features, and severity varies considerably.

Dilated cardiomyopathy 1CC is caused by mutations in the NEXN gene. The NEXN gene encodes a protein that is critical for the proper function and structural integrity of the cardiac muscle, and disruptions in its function can compromise heart performance. The condition is inherited in an autosomal dominant pattern, which means that an affected individual has one altered copy of the gene. Consequently, each child of an affected individual faces a 50% chance of inheriting the variant, and genetic counseling is recommended to help families understand and manage these risks.

Currently, management focuses on supportive care and symptom management, as there are no treatments that have been specifically approved for dilated cardiomyopathy 1CC. Treatment is tailored to the individual and often involves a multidisciplinary team to address cardiac function and overall health. Regular cardiac evaluation and monitoring are key components of care, and patients are encouraged to discuss all available treatment options and management strategies with their healthcare team. Genetic counseling is also recommended to assist families in understanding the condition and its implications.

The outlook for individuals with dilated cardiomyopathy 1CC can vary widely, with outcomes influenced by symptom severity, age at diagnosis, and access to specialized care. With current standards of care, many affected individuals manage their condition into adulthood, although the course may include periods of stability and episodes of cardiac complications. Outcomes described in medical literature continue to evolve as standards of care improve, and ongoing monitoring is essential for timely intervention. Families are encouraged to connect with genetic counselors and specialist care teams to explore all available support and management options.