cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies

Familial hypertrophic cardiomyopathy with polyglucosan bodies is a heart muscle disorder that affects the structure and function of the myocardium. The condition is associated with alterations in the KLHL24 gene, which plays a role in protein regulation, although the exact mechanism in this disease is still under investigation. It is inherited in an autosomal recessive manner, meaning that an individual must inherit two altered copies of the gene to manifest the condition. Prevalence estimates are not well established, and the condition is recognized based on its distinct cardiac features.

The cardiac features of this condition are characterized by increased myocardial glycogen content and cardiomyocyte hypertrophy, which are observed in all affected individuals. Other reported clinical features include dyspnea, systolic anterior motion of the mitral valve, reduced left ventricular endsystolic diameter, palpitations, mitral regurgitation, left ventricular outflow tract obstruction, and asymmetric septal hypertrophy. In a subset of cases, these manifestations can lead to serious complications such as sudden cardiac death. Not all individuals experience all features, and severity varies considerably.

This condition is caused by pathogenic variants in the KLHL24 gene. The KLHL24 protein is involved in the regulation of cellular processes, and disruptions in its function can contribute to abnormal accumulation of glycogen within cardiac muscle cells. The disorder follows an autosomal recessive inheritance pattern, meaning that both parents must carry a copy of the altered gene for a child to be affected. Family members may benefit from genetic counseling to understand the implications of this inheritance pattern.

Currently, management focuses on supportive care and symptom management as there are no treatments approved specifically for this condition. A multidisciplinary approach is typically recommended, with care provided by cardiologists and other relevant specialists to monitor and treat symptoms such as arrhythmias or obstruction-related issues. Patients are encouraged to discuss treatment options with their healthcare team to determine the most appropriate interventions for their individual situation. Genetic counseling is also recommended for affected families.

The outlook for individuals with this condition is variable, and outcomes depend on factors such as the severity of cardiac involvement and access to specialized care. Many individuals manage their symptoms into adulthood, although there remains a risk for complications including arrhythmias and sudden cardiac events. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with cardiologists and genetic counselors to receive personalized guidance and support.