{'fraction_non_alphanumeric': 0.0192102454642476, 'fraction_numerical': 0.012806830309498399, 'mean_word_length': 5.468965517241379, 'pattern_counts': {'":': 0, '<': 0, '<?xml version=': 0, '>': 0, 'https://': 0, 'lorem ipsum': 0, 'www.': 0, 'xml': 0}, 'pii_count': 0, 'substrings_counts': 0, 'word_list_counts': {'cursed_substrings.json': 0, 'profanity_word_list.json': 0, 'sexual_word_list.json': 0, 'zh_pornsignals.json': 0}}
Clinical and genetic investigation of catecholaminergic polymorphic ventricular tachycardia in a consanguineous Tunisian family

Abstract Background: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare disease presenting with syncopal events and sudden cardiac death at a young age in the absence of structural heart disease. Two major genes have been shown to be responsible for CPVT: RYR2 and CASQ2 genes involved in calcium homeostasis. Methods: We report here clinical and molecular investigation of a consanguineous Tunisian family including three affected members. Involvement of RYR2 and CASQ2 genes was investigated. Results: Mutation screening for RYR2 gene showed that no mutation were detected in the coding sequence. A novel variation c.572C/T was identified in CASQ2 gene leading to a p.Pro191Leu. Conclusion: To our knowledge, this is the first clinical and genetic investigation of CPVT in North Africa.