Neuromuscular Unit, Mossakowski Medical Research Center, Polish Academy of Sciences, Warsaw, Poland.
1st Department of Cardiology, Medical University of Warsaw, Banacha 1a, Warsaw, Poland.
Neurol Neurochir Pol. 2018 Mar;52(2):174-180. doi: 10.1016/j.pjnns.2017.09.006. Epub 2017 Sep 25.
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.
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。