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

Publication date: Available online 25 September 2017 Source:Neurologia i Neurochirurgia Polska Author(s): Agnieszka Madej-Pilarczyk, Michał Marchel, Karolina Ochman, Joanna Cegielska, Roman Steckiewicz 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.
Source: Polish Journal of Neurology and Neurosurgery - Category: Neurosurgery Source Type: research