ORIGINAL RESEARCH
Phenotypic Analysis of Arrhythmogenic Cardiomyopathy in the Hutterite Population: Role of Electrocardiogram in Identifying High-Risk Desmocollin-2 Carriers Jorge A. Wong, MD;* Henry J. Duff, MD;* Tiffany Yuen, BA; Louis Kolman, MD; Derek V. Exner, MD, MPH; Sarah G. Weeks, MD; Brenda Gerull, MD
Background-—The p.Gln554X mutation in desmocollin-2 (DSC2) is prevalent in 10% of the Hutterite population. While the homozygous mutation causes severe biventricular arrhythmogenic right ventricular cardiomyopathy, the phenotypic features and prognosis of heterozygotes remain incompletely understood. Methods and Results-—Eleven homozygotes (mean age 328 years, 45% female), 28 heterozygotes (mean age 4015 years, 50% female), and 22 mutation-negatives (mean age 4317 years, 41% female) were examined. Diagnostic testing was performed as per the arrhythmogenic right ventricular cardiomyopathy modified Task Force Criteria. Inverted T waves in the right precordial leads on ECG were seen in all homozygotes but not in their counterparts (P
Phenotypic Analysis of Arrhythmogenic Cardiomyopathy in the Hutterite Population: Role of Electrocardiogram in Identifying High-Risk Desmocollin-2 Carriers Jorge A. Wong, MD;* Henry J. Duff, MD;* Tiffany Yuen, BA; Louis Kolman, MD; Derek V. Exner, MD, MPH; Sarah G. Weeks, MD; Brenda Gerull, MD
Background-—The p.Gln554X mutation in desmocollin-2 (DSC2) is prevalent in 10% of the Hutterite population. While the homozygous mutation causes severe biventricular arrhythmogenic right ventricular cardiomyopathy, the phenotypic features and prognosis of heterozygotes remain incompletely understood. Methods and Results-—Eleven homozygotes (mean age 328 years, 45% female), 28 heterozygotes (mean age 4015 years, 50% female), and 22 mutation-negatives (mean age 4317 years, 41% female) were examined. Diagnostic testing was performed as per the arrhythmogenic right ventricular cardiomyopathy modified Task Force Criteria. Inverted T waves in the right precordial leads on ECG were seen in all homozygotes but not in their counterparts (P
