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HYPERTROPHIC CARDIOMYOPATHY AS A MANIFESTATION OF ANDERSON-FABRY DISEASE
2393 JACC March 21, 2017 Volume 69, Issue 11
FIT Clinical Decision Making HYPERTROPHIC CARDIOMYOPATHY AS A MANIFESTATION OF ANDERSON-FABRY DISEASE Poster Contributions Poster Hall, Hall C Saturday, March 18, 2017, 3:45 p.m.-4:30 p.m. Session Title: FIT Clinical Decision‐Making: Heart Failure and Pulmonary Hypertension Abstract Category: Heart Failure and Cardiomyopathies Presentation Number: 1257-411 Authors: Yang Zhan, Yining Xu, Thi Kim Hanh Nguyen, Richard Friedlander, Igal Sebag, Regina Husa, Jewish General Hospital, Montreal, Canada, McGill University, Montreal, Canada Background: Fabry disease is a metabolic cause of hypertrophic cardiomyopathy.
Case: A 53-year-old male was transported to the ER after a witnessed loss of consciousness for which CPR was administered. On arrival he was hemodynamically stable. An ECG showed sinus tachycardia, left ventricular hypertrophy (LVH), right bundle branch block, and a short PR interval without pre-excitation. Echocardiogram showed a left ventricular ejection fraction of 80%, marked concentric hypertrophy, and mid-cavitary obstruction. Two months prior he underwent below knee amputation complicated by postoperative chest pain and troponin elevation. Cardiac catheterization showed nonobstructive disease. Past history included peripheral arterial thrombosis, G6PD deficiency, familial Mediterranean fever (FMF), bilateral avascular femoral necrosis, sensorineural hearing loss, and autoimmune enteritis. He was admitted and an implantable loop monitor was inserted. He had two more episodes of chest pain, hypotension, and syncope requiring resuscitation. Loop recorder interrogation showed no arrhythmia. Decision‐Making: Given the constellation of symptoms, previous history, ECG and echocardiogram findings, Fabry cardiomyopathy was suspected. Serum alpha-galactosidase was 2 nmol/h/mg protein [normal 45-120]. In retrospect, many of the patient’s findings were manifestations (short PR interval without pre-excitation on ECG, severe LVH, arterial thrombosis, femoral necrosis, hearing loss, enteritis), mimickers (FMF), or associated conditions (G6PD deficiency) of Fabry disease. Conclusions: The patient was referred for genetic evaluation and enzyme replacement therapy. Further questioning revealed recent syncope in relatives in whom the same condition was being investigated. During hospitalization, the patient had a recurrence of chest pain followed by ventricular fibrillation from which he could not be resuscitated. This case illustrates the importance of the history, including family history, and broad differential diagnosis when evaluating young patients with severe LVH. Alpha-galactosidase levels should be measured in patients with symptoms supporting the diagnosis of Fabry disease.
FIT Clinical Decision Making HYPERTROPHIC CARDIOMYOPATHY AS A MANIFESTATION OF ANDERSON-FABRY DISEASE Poster Contributions Poster Hall, Hall C Saturday, March 18, 2017, 3:45 p.m.-4:30 p.m. Session Title: FIT Clinical Decision‐Making: Heart Failure and Pulmonary Hypertension Abstract Category: Heart Failure and Cardiomyopathies Presentation Number: 1257-411 Authors: Yang Zhan, Yining Xu, Thi Kim Hanh Nguyen, Richard Friedlander, Igal Sebag, Regina Husa, Jewish General Hospital, Montreal, Canada, McGill University, Montreal, Canada Background: Fabry disease is a metabolic cause of hypertrophic cardiomyopathy.
Case: A 53-year-old male was transported to the ER after a witnessed loss of consciousness for which CPR was administered. On arrival he was hemodynamically stable. An ECG showed sinus tachycardia, left ventricular hypertrophy (LVH), right bundle branch block, and a short PR interval without pre-excitation. Echocardiogram showed a left ventricular ejection fraction of 80%, marked concentric hypertrophy, and mid-cavitary obstruction. Two months prior he underwent below knee amputation complicated by postoperative chest pain and troponin elevation. Cardiac catheterization showed nonobstructive disease. Past history included peripheral arterial thrombosis, G6PD deficiency, familial Mediterranean fever (FMF), bilateral avascular femoral necrosis, sensorineural hearing loss, and autoimmune enteritis. He was admitted and an implantable loop monitor was inserted. He had two more episodes of chest pain, hypotension, and syncope requiring resuscitation. Loop recorder interrogation showed no arrhythmia. Decision‐Making: Given the constellation of symptoms, previous history, ECG and echocardiogram findings, Fabry cardiomyopathy was suspected. Serum alpha-galactosidase was 2 nmol/h/mg protein [normal 45-120]. In retrospect, many of the patient’s findings were manifestations (short PR interval without pre-excitation on ECG, severe LVH, arterial thrombosis, femoral necrosis, hearing loss, enteritis), mimickers (FMF), or associated conditions (G6PD deficiency) of Fabry disease. Conclusions: The patient was referred for genetic evaluation and enzyme replacement therapy. Further questioning revealed recent syncope in relatives in whom the same condition was being investigated. During hospitalization, the patient had a recurrence of chest pain followed by ventricular fibrillation from which he could not be resuscitated. This case illustrates the importance of the history, including family history, and broad differential diagnosis when evaluating young patients with severe LVH. Alpha-galactosidase levels should be measured in patients with symptoms supporting the diagnosis of Fabry disease.