Clinical Presentation & Protocol
Patient Usually Complains Of
Patient presents for evaluation of Danon Disease (LAMP2 deficiency), characterized by the triad of hypertrophic cardiomyopathy, skeletal myopathy, and intellectual disability. Review of systems significant for progressive exercise intolerance, palpitations, and syncope. Family history positive for early-onset cardiomyopathy and sudden cardiac death.
Clinical Examination Findings
Cardiovascular: Hypertrophic cardiomyopathy (HCM) noted on auscultation with systolic murmur at the left sternal border; signs of heart failure (S3 gallop, JVD). Neurological: Proximal muscle weakness, diminished deep tendon reflexes, and cognitive impairment. Ocular: Possible pigmentary retinopathy.
Treatment Protocol
Management focuses on symptomatic control and prevention of sudden cardiac death. Initiate beta-blockers/ACE inhibitors for heart failure. Evaluate for ICD placement due to high risk of ventricular arrhythmias. Consider heart transplantation in advanced refractory heart failure. Multidisciplinary follow-up with cardiology, neurology, and ophthalmology.