Article
Co-Phenotype of Left Ventricular Non-Compaction Cardiomyopathy and Atypical Catecholaminergic Polymorphic Ventricular Tachycardia in Association With R169Q, a Ryanodine Receptor Type 2 Missense Mutation.
Circulation journal : official journal of the Japanese Circulation Society - 24 Jan 2020
Nozaki Yoshihiro, Kato Yoshiaki, Uike Kiyoshi, Yamamura Kenichiro, Kikuchi Masahiro, Yasuda Maki, Ohno Seiko, Horie Minoru, Murayama Takashi, Kurebayashi Nagomi, Horigome Hitoshi
Abstract excerpt
BACKGROUND: Left ventricular non-compaction (LVNC) is a cardiomyopathy characterized by prominent trabeculae and intertrabecular recesses. We present the cases of 3 girls with the sameryanodine receptor type 2(RYR2) mutation who had phenotypes of both catecholaminergic polymorphic ventricular tachycardia (CPVT) and LVNC. METHODS AND RESULTS: Clinical characteristics and genetic background of the 3 patients were...
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