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  • Erica S. Zado
    Address reprint requests and correspondence: Ms Erica S. Zado, Cardiovascular Division, Founders 9, Hospital of the University of Pennsylvania, 3400 Spruce St, Philadelphia, PA 19104.
    Section of Cardiac Electrophysiology, Cardiovascular Division, Hospital of the University of Pennsylvania, Philadelphia, Philadelphia
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Published:August 26, 2019DOI:
      In this paper by DeWitt et al (J Am Coll Cardiol 2019;74:346–358, PMID 31319917), the authors describe the variable phenotype (clinical characteristics) in a group of children diagnosed with arrhythmogenic cardiomyopathy (AC). In this single-center retrospective study, the authors searched their database for all patients <21 years of age affected by AC, either as a proband (first in family identified as being affected) or a family member identified through clinical or genetic screening. They grouped the patients based on clinical characteristics as arrhythmogenic right ventricular cardiomyopathy (ARVC), left ventricular dominant AC (LVAC), or biventricular AC (BiVAC) with features of both ARVC and LVAC. Of the 32 included patients, 16 (50%) were in the ARVC group, 7 (22%) in the LVAC group, and 9 (28%) in the BiVAC group. The age at diagnosis was significantly lower in the BiVAC group (12.4 ± 5 years) compared to the LVAC (15 ± 2.1 years) or ARVC (16.7 ± 2.0 years) (P = .02) group. Patients in the BiVAC group were much more likely to be transplanted (89% vs 22% for LVAC and 0% for ARVC group). Cardiac arrest and ventricular tachycardia were more frequent in the ARVC group (75%) vs the LVAC (43%) and BiVAC (22%) groups (P = .03). Genetic testing was undertaken in 30 patients (94%), of whom 27 (90%) had a pathologic variant or variant of unknown significance likely to be pathologic. Patients with ARVC were more likely to have a variant in plakophilin 2, and those in the BiVAC group were characterized by a multiplicity of variants. Six of 32 patients (19%) had periods of inflammation with chest pain and increased troponins associated with arrhythmias at varying times within the disease process, not just at initial presentation. Electrocardiographic (ECG) manifestation of disease occurred before or coincident with structural changes in the ARVC and BiVAC groups. The authors conclude that in this pediatric population, AC has a highly variable presentation that can be aggressive and can include life-threatening ventricular arrhythmias, heart failure, and inflammation.
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