Cardiac Manifestations of Myotonic Dystrophy in a Pediatric Cohort.

ABSTRACT: Myotonic dystrophy type 1 (DM1) is the most prevalent inherited neuromuscular dystrophy in adults. It is a multisystem disease with cardiac manifestations. Whilst these are well-defined in adults, there are scarce published data in the pediatric population. This study aimed to investigate the yield and progression of cardiac disease in pediatric DM1 patients, focusing on congenital DM1 (cDM1).

Methods

A retrospective observational study of all pediatric DM1 patients referred to our center (December 2000-November 2020) was conducted. Patients were classified into DM1 forms according to age of symptom onset and disease severity. Patients underwent clinical and cardiac evaluation with 12-lead ECG, transthoracic echocardiography and 24-h ECG Holter monitoring.

Results

67 DM1 pedi

SUBMITTER: Brunet Garcia L 

PROVIDER: S-EPMC9218560 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature