Cardiac Manifestations of Myotonic Dystrophy in a Pediatric Cohort.

cardiac conduction disease congenital myotonic dystrophy electrocardiographic abnormalities myotonic dystrophy (DM1) neuromuscular disorder pediatric population

Journal

Frontiers in pediatrics
ISSN: 2296-2360
Titre abrégé: Front Pediatr
Pays: Switzerland
ID NLM: 101615492

Informations de publication

Date de publication:
2022
Historique:
received: 01 04 2022
accepted: 19 05 2022
entrez: 27 6 2022
pubmed: 28 6 2022
medline: 28 6 2022
Statut: epublish

Résumé

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). 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. 67 DM1 pediatric patients were included: 56 (83.6%) cDM1 and 11 (16.4%) non-cDM1. Median follow-up time of cDM1 patients was 8.0 [3.25-11.0] years. 49 (87.5%) cDM1 patients had baseline 12-lead ECG and 44 (78.6%) had a follow-up 12-lead-ECG, with a median follow-up time from diagnosis to baseline ECG of 2.8 [1.0-8.5] years and to follow-up ECG of 10.9 [5.7-14.2] years. Overall, 43 (87.8%) presented ECG abnormalities, most commonly in the form of asymptomatic conduction disease ( This study is the first to analyse the prevalence and progression of ECG abnormalities in cDM1 pediatric patients. The high prevalence of abnormal findings, progressive changes and number of potentially associated events (1 pacemaker implantation and 3 unexplained sudden deaths) stresses the importance of systematic and continued cardiac evaluation of these patients.

Identifiants

pubmed: 35757141
doi: 10.3389/fped.2022.910660
pmc: PMC9218560
doi:

Types de publication

Journal Article

Langues

eng

Pagination

910660

Subventions

Organisme : Medical Research Council
ID : MR/T024062/1
Pays : United Kingdom

Informations de copyright

Copyright © 2022 Brunet Garcia, Hajra, Field, Wacher, Walsh, Norrish, Manzur, Muntoni, Munot, Robb, Quinlivan, Scoto, Baranello, Sarkozy, Starling, Kaski and Cervi.

Déclaration de conflit d'intérêts

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

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Auteurs

Laia Brunet Garcia (L)

Hospital de Mataró, Barcelona, Spain.
Great Ormond Street Hospital Children's Charity, London, United Kingdom.

Ankita Hajra (A)

Great Ormond Street Hospital Children's Charity, London, United Kingdom.

Ella Field (E)

Great Ormond Street Hospital Children's Charity, London, United Kingdom.

Joseph Wacher (J)

Great Ormond Street Hospital Children's Charity, London, United Kingdom.

Helen Walsh (H)

Great Ormond Street Hospital Children's Charity, London, United Kingdom.

Gabrielle Norrish (G)

Great Ormond Street Hospital Children's Charity, London, United Kingdom.

Adnan Manzur (A)

Great Ormond Street Hospital Children's Charity, London, United Kingdom.

Francesco Muntoni (F)

Great Ormond Street Hospital Children's Charity, London, United Kingdom.

Pinki Munot (P)

Great Ormond Street Hospital Children's Charity, London, United Kingdom.

Stephanie Robb (S)

Great Ormond Street Hospital Children's Charity, London, United Kingdom.

Rosaline Quinlivan (R)

Great Ormond Street Hospital Children's Charity, London, United Kingdom.

Mariacristina Scoto (M)

Great Ormond Street Hospital Children's Charity, London, United Kingdom.

Giovanni Baranello (G)

Great Ormond Street Hospital Children's Charity, London, United Kingdom.

Anna Sarkozy (A)

Great Ormond Street Hospital Children's Charity, London, United Kingdom.

Luke Starling (L)

Great Ormond Street Hospital Children's Charity, London, United Kingdom.

Juan Pablo Kaski (JP)

Great Ormond Street Hospital Children's Charity, London, United Kingdom.

Elena Cervi (E)

Great Ormond Street Hospital Children's Charity, London, United Kingdom.

Classifications MeSH