Cardiomyopathy Associated with CHKB-Related Deficiency

Cardiomyopathy affects approximately 30% of individuals with CHKB-related muscular dystrophy and represents one of the most serious systemic manifestations of the disease. Loss of CHKB function alters cardiac muscle phospholipid composition and mitochondrial integrity, impairing contractility and energy production in the myocardium.

Patients may demonstrate ventricular dilation, reduced ejection fraction, conduction abnormalities, or symptoms of heart failure. Onset typically occurs in childhood, adolescence, or early adulthood, though progression is variable. Some individuals remain asymptomatic for years, while others develop rapidly worsening cardiac dysfunction requiring intensive management.

Monitoring includes echocardiography, cardiac MRI, electrocardiography, and early initiation of standard heart-failure therapies when indicated. In select cases, pacemaker placement or advanced cardiac interventions may be necessary.

Because cardiomyopathy significantly influences morbidity and mortality in CHKB deficiency, therapeutic development must consider cardiac tropism, mitochondrial support, and restoration of phospholipid homeostasis in cardiac tissue.