Brunet Garcia Laia, Hajra Ankita, Field Ella, Wacher Joseph, Walsh Helen, Norrish Gabrielle, Manzur Adnan, Muntoni Francesco, Munot Pinki, Robb Stephanie, Quinlivan Rosaline, Scoto Mariacristina, Baranello Giovanni, Sarkozy Anna, Starling Luke, Kaski Juan Pablo, Cervi Elena
Hospital de Mataró, Barcelona, Spain.
Great Ormond Street Hospital Children's Charity, London, United Kingdom.
Front Pediatr. 2022 Jun 9;10:910660. doi: 10.3389/fped.2022.910660. eCollection 2022.
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 ( = 23, 46.9%), of which 21 (42.9%) had first degree atrioventricular block (1 AVB). There was an increase of prevalence from baseline to follow-up ECG in low QRS voltage (16.7%), poor R wave progression (13.9%), abnormal repolarisation (11.9%) and 1 AVB (7.6%). one patient (1.8%) underwent pacemaker implantation for syncope in the context of progressive conduction disease. No patients developed left ventricular systolic dysfunction. 4 (7.1%) cDM1 patients died during follow up, including three who died suddenly with no clear cause of death.
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.
1型强直性肌营养不良（DM1）是成人中最常见的遗传性神经肌肉疾病。它是一种具有心脏表现的多系统疾病。虽然这些在成人中已明确，但儿科人群中发表的数据很少。本研究旨在调查儿科DM1患者，尤其是先天性DM1（cDM1）患者的心脏疾病发生率及进展情况。
对2000年12月至2020年11月转诊至我们中心的所有儿科DM1患者进行回顾性观察研究。根据症状出现年龄和疾病严重程度将患者分为不同的DM1类型。患者接受了12导联心电图、经胸超声心动图和24小时动态心电图监测的临床和心脏评估。
纳入67例儿科DM1患者：56例（83.6%）为cDM1，11例（16.4%）为非cDM1。cDM1患者的中位随访时间为8.0[3.25 - 11.0]年。49例（87.5%）cDM1患者有基线12导联心电图，44例（78.6%）有随访12导联心电图，从诊断到基线心电图的中位随访时间为2.8[1.0 - 8.5]年，到随访心电图的中位随访时间为10.9[5.7 - 14.2]年。总体而言，43例（87.8%）出现心电图异常，最常见的是无症状性传导疾病（n = 23，46.9%），其中21例（42.9%）有一度房室传导阻滞（1°AVB）。从基线到随访心电图，低QRS电压（16.7%）、R波进展不良（13.9%）、复极异常（11.9%）和1°AVB（7.6%）的患病率有所增加。1例患者（1.8%）因进行性传导疾病导致晕厥而接受起搏器植入。无患者发生左心室收缩功能障碍。4例（7.1%）cDM1患者在随访期间死亡，其中3例突然死亡，死因不明。
本研究首次分析了cDM1儿科患者心电图异常的患病率及进展情况。异常发现的高患病率、进展性变化以及潜在相关事件的数量（1例起搏器植入和3例不明原因的猝死）强调了对这些患者进行系统和持续心脏评估的重要性。
