Ventricular tachycardia: a presentation of Fabry disease case report

Abstract

Background Fabry disease is an inherited rare metabolic disease caused by mutation in the GLA gene, encoding lysosomal enzyme alpha-galactosidase A. The disorder is a systemic disease that manifests as cerebrovascular and cardiac disease, chronic renal failure, skin lesion, peripheral neuropathy, and other abnormalities. Ventricular tachycardia as a Fabry disease presentation is very rare. Case summary A 36-year-old man self-presented to a general practitioner complaining of episodes of shortness of breath together with a 6-month history of malaise. The 12-lead electrocardiogram (ECG) prompted a decision to transfer him immediately to a percutaneous coronary intervention (PCI) capable hospital under the suspicion of acute coronary syndrome. Whilst awaiting transport, he experienced acute onset of dyspnoea together with non-specific chest heaviness. A repeat ECG monitor strip showed ventricular tachycardia transforming to ventricular fibrillation. The patient was successfully defibrillated. Coronary angiography was performed upon arrival at hospital and demonstrated unobstructed coronary arteries. Transthoracic echocardiography revealed concentric left ventricular hypertrophy (LVH) and normal systolic function, with severe diastolic dysfunction. Magnetic resonance imaging (MRI) confirmed the LVH, and did not demonstrate any late gadolinium enhancement. Discussion Our case illustrates the pivotal role of critical clinical thinking in the diagnosis of rare but treatable hereditary cardiomyopathy. The uncommon cardiac presentation of Fabry disease promotes further research linking different phenotypes of Fabry disease with different pathogenic mutations.

Contemporary therapeutics and new drug developments for treatment of Fabry disease: a narrative review

“…Despite the positive effects of Fabry-specific therapeutics, patients with advanced Fabry cardiomyopathy also still face a relevant burden of malign ventricular arrhythmia and sudden cardiac death. With only few published articles available, beneficial effects of implantable cardioverter defibrillator therapy remains inconclusive with no guidelines been established to date (70)(71)(72)(73). This is of special relevance in those patients demonstrating with the "cardiac variants" where organ manifestations are almost completely limited to the heart.…”