Clinical Presentation & Protocol
Patient Usually Complains Of
Patient presents for follow-up of Fabry disease cardiomyopathy (ICD-10: E75.21). Reports progressive exertional dyspnea (NYHA class [I-IV]), palpitations, and occasional atypical chest pain. History significant for confirmed GLA gene mutation. Current symptoms evaluated for potential progression of left ventricular hypertrophy (LVH), conduction system abnormalities, or worsening diastolic dysfunction. No syncope or near-syncope reported.
Clinical Examination Findings
Cardiovascular exam: Regular rate and rhythm, S1/S2 present. Grade [I-III/VI] systolic murmur noted at the apex, consistent with LVH-related outflow tract dynamics. No S3/S4 gallop. Peripheral pulses symmetric. No peripheral edema or jugular venous distension. Skin exam: Absence/presence of angiokeratomas noted. Neurological: No focal deficits.
Treatment Protocol
Continue enzyme replacement therapy (ERT) with [Agalsidase alfa/beta] as scheduled. Optimize guideline-directed medical therapy (GDMT) for cardiomyopathy, including ACE inhibitors/ARBs for remodeling and beta-blockers for rate control/conduction management. Monitor renal function and electrolyte balance. Schedule periodic echocardiogram and cardiac MRI to assess LV mass index and fibrosis progression.