Children with arrhythmogenic cardiomyopathy show high arrhythmia burden (48.6%) and structural abnormalities (65.7%), with 24.3% receiving ICD and 12.9% needing transplant.
Children with arrhythmogenic cardiomyopathy phenotypes exhibit a high burden of arrhythmic and structural disease, suggesting that current diagnostic criteria may be inadequate for the pediatric population.
Absolute Event Rate: 0% vs 0%
Abstract Background Arrhythmogenic cardiomyopathy is an umbrella term that encompasses various cardiomyopathy phenotypes, including dilated cardiomyopathy(DCM), nondilated left ventricular cardiomyopathy(NDLVC), and arrhythmogenic right ventricular cardiomyopathy(ARVC). Data on these conditions in the paediatric population remain limited. This study describes the clinical characteristics of children with genetic and gene-elusive NDLVC, ARVC, DCM. Methods Data on clinical presentation; genetic background; resting, signal-averaged and ambulatory electrocardiogram (ECG); exercise test (ETT); cardiac magnetic resonance (CMR); and outcomes from patients aged≤18 y evaluated in a single tertiary referral centre were collected. Results A total of 183 patients mean age 16.4±4.6 y; 107 (58%) female were included. 78 (42.6%) carried a desmosomal gene variant, 25 (13.7%)LMNA, 11 (6.0%)FLNC, 3 (1.6%)RBM20, 2 (1.1%)PLN, 2 (1.1%) SCN5A, 2 (1.1%)DES, 1 (0.5%)EDM, and 59 (32.2%) had no disease-causing gene variant identified. 71 individuals (38.8%) had no phenotypic features, 42 (23%) had non-diagnostic ‘early’ phenotypic features, and 70 (38.3%) fulfilled conventional diagnostic criteria, including: 34 (48.6%) DCM, 26 (37.1%) ARVC 10 (14.3%) definite, 10 (14.3%) borderline, 6 (8.6%) possible and 10 (14.3%) NDLVC. Among affected patients, arrhythmias were observed in 34 (48.6%): ventricular arrythmias in 28 (40%) non-sustained ventricular tachycardia (NSVT) 17 (24.3%), ventricular tachycardia (VT) 9 (12.9%), ventricular fibrillation (VF) 2 (2.9%) and atrial tachycardia in 7 (10%). Frequent ventricular ectopy (VE) was found on ambulatory ECG monitoring in 26 cases (37.1%) and ETT-induced VE in 19 (27.1%). SAECG was positive in 17 (24.3%); resting ECG abnormalities were present in 38 (54.3%), and CMR structural abnormalities in 46 (65.7%). 17 patients (24.3%) underwent implantable cardioverter defibrillator (ICD) insertion (including 2 for secondary prevention), 9 (12.9%) underwent heart transplantation and 2 (2.9%) died (1 on the transplant list and 1 following transplantation). Among those with ‘early’ phenotype expression, arrhythmias were present in 23 (54%): NSVT 9 (39%), sustained VT 2 (9%), supraventricular tachycardia 6 (26%), and 1st-degree AV block 4 (17%). Frequent VE was found in 11 cases (26%) and ETT-induced VE in 6 (14%). SAECG was positive in 7 cases (16%), and resting ECG abnormalities were seen in 14 (33%). CMR abnormalities were found in 13 (29%). 2 patients (4.8%) underwent primary prevention ICD implantation. Conclusion This study shows a high burden of arrhythmic and structural disease and early phenotypic expression in children with arrhythmogenic cardiomyopathy phenotypes. These findings suggest that current diagnostic criteria may not adequately detect disease features in the paediatric population; future studies to determine paediatric and gene-specific diagnostic criteria for arrhythmogenic cardiomyopathy phenotypes are required.
Moscatelli et al. (Sat,) reported a other. Children with arrhythmogenic cardiomyopathy show high arrhythmia burden (48.6%) and structural abnormalities (65.7%), with 24.3% receiving ICD and 12.9% needing transplant.