Autosomal Recessive Nonsyndromic Arrhythmogenic Right Ventricular Cardiomyopathy without Cutaneous Involvements: A Novel Mutation. (19th May 2017)

• Record Type: Journal Article
• Authors: Soveizi, Mahdieh; Rabbani, Bahareh; Rezaei, Yousef; Saedi, Sedigheh; Najafi, Nasim; Maleki, Majid; Mahdieh, Nejat
• Is Part Of: Annals of human genetics. Volume 81:Number 4(2017:Jul.)
• Page Start: 135
• Page End: 140
• Publication Date: 2017-05-19
• Subjects: ARVD -- Autosomal recessive -- Plakophilin‐2; Human genetics -- Periodicals; 599.935
• DOI: 10.1111/ahg.12193
• Languages: English
• ISSNs: 0003-4800

Abstract

Summary: The arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a genetic disease frequently associated with desmosomal mutations, mainly attributed to dominant mutations in the Plakophilin‐2 ( PKP2) gene. Naxos and Carvajal are the syndromic forms of ARVD/C due to recessive mutations. Herein, we report an autosomal recessive form of nonsyndromic ARVD/C caused by a mutation in the PKP2 gene. After examination and implementation of diagnostic modalities, the definite diagnosis of ARVD/C was confirmed by detection of ventricular tachycardia with a left bundle branch configuration and a superior axis, T‐wave inversion in right precordial leads (i.e., V1‐V3) in a 12‐lead electrocardiogram, and a right ventricle outflow tract dilatation. Neither cutaneous involvement nor other abnormalities were observed. Genetic testing was performed during which an intronic mutation of c.2577+1G>T in the PKP2 gene was observed homozygously. The c.2577+1G>T disrupts PKP2 mRNA splicing and causes a nonsyndromic form of ARVD/C.