open access
Low-symptomatic skeletal muscle disease in patients with a cardiac disease – Diagnostic approach in skeletal muscle laminopathies
Affiliations- Neuromuscular Unit, Mossakowski Medical Research Center, Polish Academy of Sciences, Warsaw, Poland
- 1st Department of Cardiology, Medical University of Warsaw, Banacha 1a, Warsaw, Poland
- Clinics and Medical Laboratories INVICTA, Genetics Clinic, Gdansk, Poland
- Department of Neurology, Medical University of Warsaw, Bielanski Hospital, Warsaw, Poland
open access
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.
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.
Keywords
LMNA gene, Lamin A/C, Laminopathy, Emery-Dreifuss muscular dystrophy, Cardiac involvement
About this articleTitle
Low-symptomatic skeletal muscle disease in patients with a cardiac disease – Diagnostic approach in skeletal muscle laminopathies
Journal
Neurologia i Neurochirurgia Polska
Issue
Pages
174-180
Published online
2017-09-25
Page views
309
Article views/downloads
430
DOI
10.1016/j.pjnns.2017.09.006
Bibliographic record
Neurol Neurochir Pol 2018;52(2):174-180.
Keywords
LMNA gene
Lamin A/C
Laminopathy
Emery-Dreifuss muscular dystrophy
Cardiac involvement
Authors
Agnieszka Madej-Pilarczyk
Michał Marchel
Karolina Ochman
Joanna Cegielska
Roman Steckiewicz
