Dilated cardiomyopathy revealing Refsum disease: a case report

Refsum disease is a rare autosomal recessive hereditary disorder of lipid metabolism that results in the accumulation of phytanic acid. This syndrome is characterized with a range of classic symptoms including ataxia, peripheral neuropathy, amyotrophy, retinopathy, ichthyosis, and hearing loss. Late...

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Bibliographic Details
Published in:	Journal of medical case reports Vol. 18; no. 1; pp. 470 - 5
Main Authors:	Arous, Salim, Atlas, Ilyas, Arous, Amina, Zahidi, Hatim, Benouna, El Ghali Mohamed, Habbal, Rachida
Format:	Journal Article
Language:	English
Published:	England BioMed Central Ltd 30-09-2024 BioMed Central BMC
Subjects:	Adult Cardiomyopathy, Dilated Cardiomyopathy, Dilated - complications Cardiomyopathy, Dilated - diagnosis Cardiomyopathy, Dilated - physiopathology Case Report Deafness Dilated cardiomyopathy Diseases Echocardiography Genetic aspects Heart Heart Failure - etiology Humans Male Physiological aspects Phytanic Acid Refsum disease Refsum Disease - complications Refsum Disease - diagnosis Dilated cardiomyopathy Phytanic acid Refsum disease
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Summary:	Refsum disease is a rare autosomal recessive hereditary disorder of lipid metabolism that results in the accumulation of phytanic acid. This syndrome is characterized with a range of classic symptoms including ataxia, peripheral neuropathy, amyotrophy, retinopathy, ichthyosis, and hearing loss. Later in life, individuals with Refsum disease may present cardiac manifestations, such as arrhythmias or conduction defects (first-degree atrioventricular block and bundle branch block) and hypertrophic or dilated cardiomyopathy, leading to heart failure and sudden death. To the best of our knowledge, this is the first case revealed by cardiac manifestations described in literature. We report the case of 38-year-old white Moroccan male who was admitted in our department for an acute decompensated heart failure episode. Transthoracic echocardiography found a dilated cardiomyopathy with a reduced ejection fraction at 15%. Further evaluation showed different features of Refsum disease. High plasma level of phytanic acid confirmed the diagnosis. Cardiac manifestations are frequent in the late course of the adult Refsum disease and include, cardiomyopathy, electrical abnormalities, and sudden cardiac death. Moreover, arrhythmias remain one of the main causes of death in these patients. Refsum's disease is an autosomal recessive disorder. It presents as retinitis pigmentosa with anosmia, deafness ataxia, and cardiac defects. Current interventions for individuals with Refsum disease consist of dietary phytanic acid restriction and lipid apheresis to control symptoms and enhance quality of life.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	1752-1947 1752-1947
DOI:	10.1186/s13256-024-04789-5