Cardiology Department, Ibn Rochd Hospital University, Casablanca, Morocco.
J Med Case Rep. 2024 Sep 30;18(1):470. doi: 10.1186/s13256-024-04789-5.
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.
Refsum 病是一种罕见的常染色体隐性遗传性脂代谢紊乱疾病，导致植烷酸堆积。该综合征的特征是一系列典型症状，包括共济失调、周围神经病、肌萎缩、视网膜病变、鱼鳞癣和听力损失。在生命后期，Refsum 病患者可能出现心脏表现，如心律失常或传导缺陷（一度房室传导阻滞和束支传导阻滞）以及肥厚性或扩张性心肌病，导致心力衰竭和猝死。据我们所知，这是文献中首次描述心脏表现的病例。
我们报告了一例 38 岁的白人摩洛哥男性，因急性失代偿性心力衰竭入院。经胸超声心动图发现扩张型心肌病，射血分数为 15%。进一步评估显示出不同的 Refsum 病特征。高血浆植烷酸水平证实了诊断。心脏表现是成人 Refsum 病晚期常见的表现，包括心肌病、电异常和心脏性猝死。此外，心律失常仍然是这些患者死亡的主要原因之一。
Refsum 病是一种常染色体隐性遗传病。它表现为视网膜色素变性伴嗅觉丧失、耳聋、共济失调和心脏缺陷。目前针对 Refsum 病患者的干预措施包括饮食中植烷酸限制和脂质吸附，以控制症状并提高生活质量。
