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

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.

Emery‐Dreifuss muscular dystrophy

“…Most patients experience difficulties walking and require ambulatory support, occasionally losing ambulation by the fourth decade . In one study, three of five patients with the early and rapidly progressive phenotype became nonambulatory between the ages of 8 and 13 years …”

“…Genetic counselors can also guide families regarding family planning options to curtail the risk of recurrence, such as preimplantation genetic diagnosis. Genetic counseling also allows for carriers to pursue appropriate monitoring for potentially life‐threatening cardiac complications …”

“…Procedures often need to be repeated to achieve a sustained benefit. However, the therapeutic effects of surgical procedures appear to last longer if the surgery is done after the adolescent growth spurt . Overall, outcomes for ankle contractures seem to be the most favorable, while surgical treatment for elbow contractures is more complex and results are frequently not long‐lasting.…”

“…10 In one study, three of five patients with the early and rapidly progressive phenotype became nonambulatory between the ages of 8 and 13 years. 10,89,90 The phenotypic variability seen with LMNA mutations does not appear to be directly associated with the type of mutation, evidenced by the significant inconsistency in severity between families, as well as among members of the same family, with identical mutations. 10 For example, a single nucleotide deletion (c.959Tdel in exon 6) shared by members of the same family has been shown to lead to diverse clinical phenotypes, including pure dilated cardiomyopathy (DCM) with conduction defects, DCM with EDMD-like skeletal muscle abnormalities, and DCM with LGMD-like skeletal muscular dystrophy.…”

“…Genetic counseling also allows for carriers to pursue appropriate monitoring for potentially life-threatening cardiac complications. 89…”