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. 2011 Aug;8(8):1214-21.
doi: 10.1016/j.hrthm.2011.03.015. Epub 2011 Mar 10.

Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy

Annukka M Lahtinen  1 , Eero Lehtonen, Annukka Marjamaa, Maija Kaartinen, Tiina Heliö, Kimmo Porthan, Lasse Oikarinen, Lauri Toivonen, Heikki Swan, Antti Jula, Leena Peltonen, Aarno Palotie, Veikko Salomaa, Kimmo Kontula
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Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy

Annukka M Lahtinen et al. Heart Rhythm. 2011 Aug.

Abstract

Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a progressive myocardial disorder caused by mutations of desmosomal cell adhesion proteins. The prevalence of these variants in the general population is unknown.

Objective: This study examined the spectrum and population prevalence of desmosomal mutations predisposing to ARVC in Finland.

Methods: We screened 29 Finnish ARVC probands for mutations in the DSP, DSG2, and DSC2 genes. All Finnish-type ARVC-associated mutations, including those 3 previously identified in PKP2 in the same patient group, were analyzed in the population-based Health 2000 cohort of 6,334 individuals and tested for association with electrocardiographic variables.

Results: We detected 2 novel mutations: DSG2 3059_3062delAGAG and DSP T1373A. DSG2 3059_3062delAGAG was present in a family with 5 mutation carriers. The endomyocardial samples of the DSG2 deletion carrier showed reduced immunoreactive signal for desmoglein-2, plakophilin-2, plakoglobin, and desmoplakin. DSP T1373A was found in 1 proband with typical right ventricular disease and exercise-related ventricular tachycardia. In the population sample, the collective prevalence of all 5 mutations identified in the 29 ARVC patients (PKP2 Q62K, Q59L, N613K, DSG2 3059_3062delAGAG, and DSP T1373A) was 31 of 6,334 individuals, or 0.5%. The apparent founder mutation PKP2 Q59L is present in 0.3% of Finns and was previously shown to have an approximately 20% disease penetrance.

Conclusion: One of 200 Finns carries a desmosomal mutation that may predispose to ARVC and its clinical sequelae. ARVC-associated mutations may thus be more prevalent in the population than expected based on the published ARVC prevalence data.

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Comment in

  • Desmosomal mutations across the fence.
    Bhuiyan ZA, Wilde AA. Bhuiyan ZA, et al. Heart Rhythm. 2011 Aug;8(8):1222-3. doi: 10.1016/j.hrthm.2011.03.057. Epub 2011 Apr 1. Heart Rhythm. 2011. PMID: 21459163 No abstract available.

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