P327 A STRANGE CASE OF ACUTE CORONARY SYNDROME

Abstract

Abstract We report a case of a 46–years–old man hypertensive, diabetic with dyslipidemia with a previous hospitalization for NSTEMI. The Coronary angiography highlighted right coronary artery vasospasm. Echocardiogram reported good left ventricular function with left ventricular hypertrophy. ECG showed Sinus Rhythm with HR 60 bpm, PR 110 msec and right bundle branch block (Figure 1). He was discharged in dual antiplatelet therapy and with Diltiazem and nitrates. Later the patients reported several events of worsening angina and required the ER access: his therapy was integrated with ranolazine. After that he was bring to our attention for a relapse of NSTEMI. ECG: Sinus Rhythm with HR 55 bpm, PR 110 msec and right bundle branch block. Echocardiogram showed LV with severe wall thickening (ventricular septum/posterior wall 17/14 mm), LVEF 55% in the absence of segmental kinetic alterations, no intraventricular and/or outflow obstruction. There was a first degree diastolic disfunction, and there was mild reduction in both systolic and diastolic velocities on TDI. The right ventricle was not dilated, with thickened free wall, and normal systolic function [figure 2]. A repeated coronary angiography excluded a critical coronary artery disease, but it reveals again evidence of right coronary artery vasospasm. Diltiazem was replaced with nifedipine.A careful anamnesis revealed a history of tinnitus, with right receptive hypoacusia as a result of vestibular neuritis. Blood tests revealed proteinuria with 1800 mg/24 h with glycated Hb 5.8%. Based on the clinical history and the ECG and echocardiographic findings screening for Fabry disease was performed: the results showed abnormal levels of alpha–galactosidase A and plasma lyso–Gb3. Further investigations included cardiac MRI, which confirmed interventricular septal hypertrophy but no late gadolinium enhancement, and ophthalmologic examination, which revealed cornea verticillata in the left eye. Electromyography showed signs of peripheral neuropathy, and renal biopsy was consistent with Fabry disease. Genetic analysis revealed a mutation in exon 1 of the GLA gene (c.62 T>G) that results in the amino acid substitution p.L21R, which has been previously described in patients with Fabry disease. The final diagnosis was Fabry disease with cardiac, renal, and peripheral neuropathic involvement. Enzyme replacement therapy was started with regression of angina episodes.