Low-symptomatic skeletal muscle disease in patients with a cardiac disease - Diagnostic approach in skeletal muscle laminopathies.
| Autor: | Madej-Pilarczyk A; Neuromuscular Unit, Mossakowski Medical Research Center, Polish Academy of Sciences, Warsaw, Poland. Electronic address: agamadpil@gmail.com., Marchel M; 1st Department of Cardiology, Medical University of Warsaw, Banacha 1a, Warsaw, Poland., Ochman K; Clinics and Medical Laboratories INVICTA, Genetics Clinic, Gdansk, Poland., Cegielska J; Department of Neurology, Medical University of Warsaw, Bielanski Hospital, Warsaw, Poland., Steckiewicz R; 1st Department of Cardiology, Medical University of Warsaw, Banacha 1a, Warsaw, Poland. |
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| Jazyk: | angličtina |
| Zdroj: | Neurologia i neurochirurgia polska [Neurol Neurochir Pol] 2018 Mar; Vol. 52 (2), pp. 174-180. Date of Electronic Publication: 2017 Sep 25. |
| DOI: | 10.1016/j.pjnns.2017.09.006 |
| Abstrakt: | 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. (Copyright © 2017. Published by Elsevier Urban & Partner Sp. z o.o.) |
| Databáze: | MEDLINE |
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