439P Cardiac abnormalities and management in children with myotonic dystrophy type 1

• Published in: Neuromuscular disorders : NMD 2024-10, Vol.43, p.104441, Article 104441.514
• Main Authors: Bovenkerk, D., Van Den Akker, R., Klinkenberg, S., Louw, J., Udink Ten Cate, F., Braakman, H.
• Format: Article
• Language: English
• ISSN: 0960-8966
• DOI: 10.1016/j.nmd.2024.07.523

Little is known about cardiac involvement and the frequency of screening in children with myotonic dystrophy type 1 (DM1) and guidelines regarding cardiovascular management in children with DM1 are lacking. The aim of this study was to gain insight in cardiovascular screening and management of children with DM1 and to identify the presence of cardiac involvement in our patient cohort. A retrospective chart study was performed for all children diagnosed with DM1 at the Dutch DM1 expertise center. Demographic data, disease specific data, physical examination at time of latest visit (i.e. BMI, heart rate, blood pressure), clinical symptoms of cardiac manifestations (i.e. dyspnea, chest pain or pressure, palpitations, syncope and light-headedness), frequency of cardiovascular follow up and type of cardiovascular investigations were collected. Cardiac involvement was defined as severe if the patient presented with a symptomatic conduction disorder or an arrhythmia that required permanent pacing or antiarrhythmic drug therapy. Patients’ most recent ECG were analyzed. 88 DM1 patients