The phenotypic and genetic features of arrhythmogenic cardiomyopathy in the pediatric population.

ABSTRACT:

Introduction

The present study aimed to describe the phenotypic features and genetic spectrum of arrhythmogenic cardiomyopathy (ACM) presented in childhood and test the validity of different diagnostic approaches using Task Force Criteria 2010 (TFC) and recently proposed Padua criteria.

Patients and methods

Thirteen patients (mean age at diagnosis 13.6 ± 3.7 years) were enrolled using "definite" or "borderline" diagnostic criteria of ACM according to the TFC 2010 and the Padua criteria in patients <18 years old. Clinical data, including family history, 12-lead electrocardiogram (ECG), signal-averaged ECG, 24-h Holter monitoring, imaging techniques, genetic testing, and other relevant information, were collected.

Results

All patients were classified into three variants

SUBMITTER: Kofeynikova O 

PROVIDER: S-EPMC10541206 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature