cardiomyopathy, dilated, 2H

Cardiomyopathy, dilated, 2H is an inherited heart condition that primarily affects the structure and function of the cardiac muscle. It is associated with variants in the GET3 gene, which play a role in normal cellular processes. The condition typically presents with impaired ventricular function and other cardiac anomalies from an early stage. Although specific prevalence estimates are not available, it is understood to be an uncommon disorder.

Individuals with cardiomyopathy, dilated, 2H usually display a consistently reduced left ventricular ejection fraction, accompanied by tachypnea, a muscular ventricular septal defect, and feeding difficulties observed early in life. In some cases, patients may also experience cardiorespiratory arrest or a secundum atrial septal defect, although these features appear in only a subset of affected individuals. Not all individuals experience every feature, and severity varies considerably.

This condition is linked to pathogenic variants in the GET3 gene, which is important for ensuring proper cellular function. It is inherited in an autosomal recessive pattern, meaning that an affected individual inherits one altered copy of the gene from each parent. As a result, each sibling of an affected person has a 25% chance of inheriting the condition, and genetic counseling is recommended to help families understand these inheritance risks.

Currently, management focuses on supportive care and symptom management tailored to the individual, as there are no treatments specifically approved for cardiomyopathy, dilated, 2H. A multidisciplinary care team typically monitors cardiac function through regular evaluations such as echocardiograms and implements interventions to manage symptoms. Genetic counseling is recommended to guide treatment decisions and assist with family planning.

Outcomes for individuals with cardiomyopathy, dilated, 2H vary widely based on the severity of the condition and access to specialized care. With current standards of care, many individuals benefit from early intervention and regular monitoring, although the clinical course may range from periods of stability to gradual decline. Outcomes described in medical literature continue to evolve as standards of care improve, so families are encouraged to connect with genetic counselors and specialist care teams for the most up-to-date guidance.