Key result
Alpha-Gal A replacement was administered for 8 months without side effects in a patient with Fabry's disease presenting with a novel left ventricular apical aneurysm phenotype.
Case Report (n=1)
Left ventricular apical aneurysm is a novel phenotype of Fabry's disease that mimics hypertrophic cardiomyopathy, requiring meticulous imaging and genetic testing for accurate diagnosis.
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May support short-term enzyme replacement in this rare phenotype; leaves open larger studies on prevalence and outcomes.
A 63-year-old man with a history of chronic kidney disease and atrial flutter status post ablation and permanent pacemaker implant presented with worsening shortness of breath. Echocardiogram revealed asymmetric left ventricular wall thickness involving the posterior wall and midventricular septum (S) with maximal thickness of 28 mm, midventricular obstruction (gradient 19 mmHg), moderate mitral regurgitation, and Grade II diastolic dysfunction. An apical aneurysm was identified using contrast echocardiography (Panels A–C, arrows) and by computed tomography (Panel D, arrows). A diagnosis of hypertrophic cardiomyopathy (HCM) phenotype was made. However, the alpha-galactosidase level was low. Genetic testing confirmed mutation of alpha-galactosidase A (alpha-Gal A) gene while genetic testing for HCM was negative. Electron microscopy of renal tissue showed hypertrophic vacuolated cells with electron-dense concentric lamellar bodies, typical for Fabry's disease. The patient has been treated with alpha-Gal A replacement for 8 months without any side effects. This case illustrates the formation of an apical aneurysm as a novel presentation of Fabry's disease, akin to its HCM phenocopy. Meticulous imaging and high degree of suspicion are needed for diagnosis and may impact management decisions for HCM phenocopies. L, lateral wall of the left ventricle; RV, right ventricle.
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Agarwal et al. (2013) conducted a case report in Fabry's disease (n=1). alpha-Gal A replacement was evaluated. Alpha-Gal A replacement was administered for 8 months without side effects in a patient with Fabry's disease presenting with a novel left ventricular apical aneurysm phenotype.
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