Cardiac Involvement in LAMA2-Related Muscular Dystrophy and SELENON-Related Congenital Myopathy: A Case Series.

ABSTRACT:

Background

LAMA2-related muscular dystrophy (LAMA2-MD) and SELENON-related myopathy (SELENON-RM) are two rare neuromuscular diseases characterized by proximal and axial muscle weakness, scoliosis, spinal rigidity, low bone quality and respiratory impairment. Cardiac involvement has previously been described in retrospective studies and case reports, but large case series and prospective studies in unselected cohorts are lacking.

Objective

The objective of this study is to conduct prevalence estimations, perform cardiac phenotyping, and provide recommendations for clinical care.

Methods

In this case series including two time points, we conducted comprehensive assessments with electrocardiography (ECG) and transthoracic echocardiography (TTE). ECGs were systematically a

SUBMITTER: Bouman K 

PROVIDER: S-EPMC11380286 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature