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患有心脏疾病患者的低症状骨骼肌疾病 - 骨骼肌层联蛋白病的诊断方法。

Low-symptomatic skeletal muscle disease in patients with a cardiac disease - Diagnostic approach in skeletal muscle laminopathies.

机构信息

Neuromuscular Unit, Mossakowski Medical Research Center, Polish Academy of Sciences, Warsaw, Poland.

1st Department of Cardiology, Medical University of Warsaw, Banacha 1a, Warsaw, Poland.

出版信息

Neurol Neurochir Pol. 2018 Mar;52(2):174-180. doi: 10.1016/j.pjnns.2017.09.006. Epub 2017 Sep 25.

DOI:10.1016/j.pjnns.2017.09.006
PMID:28987496
Abstract

Mild skeletal muscle symptoms might be accompanied with severe cardiac disease, sometimes indicating a serious inherited disorder. Very often it is a cardiologist who refers a patient with cardiomyopathy and/or cardiac arrhythmia and discrete muscle disease for neurological consultation, which helps to establish a proper diagnosis. Here we present three families in which a diagnosis of skeletal muscle laminopathy was made after careful examination of the members, who presented with cardiac arrhythmia and/or heart failure and a mild skeletal muscle disease, which together with positive family history allowed to direct the molecular diagnostics and then provide appropriate treatment and counseling.

摘要

轻度骨骼肌肉症状可能伴有严重的心脏疾病,有时提示严重的遗传性疾病。通常情况下,是心脏病专家将患有心肌病和/或心律失常以及离散性肌肉疾病的患者转介至神经科进行咨询,这有助于确立正确的诊断。在这里,我们介绍了三个家系,这些家系的成员表现出心律失常和/或心力衰竭以及轻度骨骼肌肉疾病,经过仔细检查后,诊断为骨骼肌肉层状结构病。阳性家族史有助于指导分子诊断,然后提供适当的治疗和咨询。

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