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Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death

Early diagnosis of asymptomatic carriers

Barbara Bauce, MD, PhD^*, Alessandra Rampazzo, BSc, PhD, Cristina Basso, MD, PhD, Alessia Bagattin, BSc, Luciano Daliento, MD^*, Natascia Tiso, BSc, PhD, Pietro Turrini, MD, PhD, Gaetano Thiene, MD, Gian Antonio Danieli, BSc and Andrea Nava, MD^*,*

^* Department of Cardiology, University of Padua Medical School, Padua, Italy
Department of Biology, University of Padua Medical School, Padua, Italy
Department of Pathology, University of Padua Medical School, Padua, Italy

View larger version (61K): [in a new window]   Figure 1 Pedigrees of eight families. Family nos. 102, 123, 115 and 122 have been already reported (7). Corresponding ryanodine receptor type 2 (RyR2) mutations identified by deoxyribonucleic acid (DNA) sequence analysis are reported on the right side. (A) The DNA sequencing of subjects from family nos. 125 and 127 revealed a CT transition, which changes codon 420 from CGG to TGG, resulting in ArgTrp substitution. In family no. 126, DNA sequencing of RyR2 exon 47 in all family members revealed an AG transition, leading to Tyr2392Cys substitution. The DNA sequencing of RyR2 exon 49 in subjects belonging to family no. 129 showed a CT transition, resulting in ThrMet substitution. (B) The DNA sequencing of subjects from family nos. 102 and 123 revealed an AT transversion, which changes codon 2386 from AAC to ATC, resulting in AsnIle substitution. In family no. 115, DNA sequencing of RyR2 exons 49 and 8 in all family members revealed two transitions (CT in exon 49 and GA in exon 8), leading to Thr2504Met and Arg176Gln substitutions. The DNA sequencing of RyR2 exon 15 in subjects belonging to family no. 122 showed a TC transition, resulting in LeuPro substitution.

View larger version (151K): [in a new window]   Figure 2 Electrocardiographic monitoring during the stress test (family no. 126, subject II-4). (Left panel, limb leads) Appearance of monomorphic ventricular complexes that create a bigeminy. As the effort increases, premature ventricular complexes become multifocal and repetitive. (Right panel, precordial leads)

View larger version (14K): [in a new window]   Figure 3 Distribution of patients with effort-induced polymorphic ventricular arrhythmias and/or syncope in relation to age.