{"doi":"10.1016/j.hrcr.2025.06.021","title":"Homozygous and heterozygous penetrance of a missense CASQ2 variant in a South Asian family","abstract":"Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare cardiac channelopathy characterized by bidirectional or polymorphic ventricular tachyarrhythmias, often triggered by exercise or emotion. CPVT can lead to syncope and sudden cardiac death (1, 2). Monogenic causes of CPVT have been described with both autosomal dominant patterns (RYR2, calmodulin) and autosomal recessive inheritance patterns (CASQ2, TRDN) (3, 4). Pathogenic variants in CASQ2 lead to the most common autosomal recessive form of CPVT (1%–2% of all cases); however, there have been rare reports of penetrant disease with heterozygous CASQ2 genotypes (5, 6).","journal":"HeartRhythm Case Reports","year":2025,"id":568999,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":0,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9582,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2025-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":373366,"name":"Sara Cherny","orcid":"0000-0002-1453-6055","position":1,"is_corresponding":false},{"id":373368,"name":"Gregory Webster","orcid":"0000-0002-9107-8342","position":2,"is_corresponding":false},{"id":1473687,"name":"Muhammad Mohsin","orcid":"0009-0000-3879-7877","position":0,"is_corresponding":true}],"reference_count":10,"raw_metadata":null,"created_at":"2026-07-19T02:56:55.795846Z","pmid":"41333935","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}