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

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...

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Bibliographic Details
Published in:Neurologia i neurochirurgia polska 2018-03, Vol.52 (2), p.174-180
Main Authors: Madej-Pilarczyk, Agnieszka, Marchel, Michał, Ochman, Karolina, Cegielska, Joanna, Steckiewicz, Roman
Format: Article
Language:English
Subjects:
Cardiac arrhythmia
Cardiac involvement
Emery-Dreifuss muscular dystrophy
Heart Diseases - complications
Humans
Lamin A/C
Lamin Type A
Laminopathy
LMNA gene
Medical diagnosis
Muscle, Skeletal
Musculoskeletal Diseases - complications
Musculoskeletal system
Mutation
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Summary: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.
ISSN:0028-3843
1897-4260
DOI:10.1016/j.pjnns.2017.09.006