{"doi":"10.1161/circulationaha.119.044366","title":"Hypertrophic Cardiomyopathy With Left Ventricular Systolic Dysfunction","abstract":"BACKGROUND: The term \"end stage\" has been used to describe hypertrophic cardiomyopathy (HCM) with left ventricular systolic dysfunction (LVSD), defined as occurring when left ventricular ejection fraction is <50%. The prognosis of HCM-LVSD has reportedly been poor, but because of its relative rarity, the natural history remains incompletely characterized. METHODS: Data from 11 high-volume HCM specialty centers making up the international SHaRe Registry (Sarcomeric Human Cardiomyopathy Registry) were used to describe the natural history of patients with HCM-LVSD. Cox proportional hazards models were used to identify predictors of prognosis and incident development. RESULTS: From a cohort of 6793 patients with HCM, 553 (8%) met the criteria for HCM-LVSD. Overall, 75% of patients with HCM-LVSD experienced clinically relevant events, and 35% met the composite outcome (all-cause death [n=128], cardiac transplantation [n=55], or left ventricular assist device implantation [n=9]). After recognition of HCM-LVSD, the median time to composite outcome was 8.4 years. However, there was substantial individual variation in natural history. Significant predictors of the composite outcome included the presence of multiple pathogenic/likely pathogenic sarcomeric variants (hazard ratio [HR], 5.6 [95% CI, 2.3-13.5]), atrial fibrillation (HR, 2.6 [95% CI, 1.7-3.5]), and left ventricular ejection fraction <35% (HR, 2.0 [95% CI, 1.3-2.8]). The incidence of new HCM-LVSD was ≈7.5% over 15 years. Significant predictors of developing incident HCM-LVSD included greater left ventricular cavity size (HR, 1.1 [95% CI, 1.0-1.3] and wall thickness (HR, 1.3 [95% CI, 1.1-1.4]), left ventricular ejection fraction of 50% to 60% (HR, 1.8 [95% CI, 1.2, 2.8]-2.8 [95% CI, 1.8-4.2]) at baseline evaluation, the presence of late gadolinium enhancement on cardiac magnetic resonance imaging (HR, 2.3 [95% CI, 1.0-4.9]), and the presence of a pathogenic/likely pathogenic sarcomeric variant, particularly in thin filament genes (HR, 1.5 [95% CI, 1.0-2.1] and 2.5 [95% CI, 1.2-5.1], respectively). CONCLUSIONS: HCM-LVSD affects ≈8% of patients with HCM. Although the natural history of HCM-LVSD was variable, 75% of patients experienced adverse events, including 35% experiencing a death equivalent an estimated median time of 8.4 years after developing systolic dysfunction. In addition to clinical features, genetic substrate appears to play a role in both prognosis (multiple sarcomeric variants) and the risk for incident development of HCM-LVSD (thin filament variants).","journal":"Circulation","year":2020,"id":49987,"datarank":5.3517405836860075,"base_score":5.37989735354046,"endowment":5.37989735354046,"self_citation_contribution":0.8069846030310691,"citation_network_contribution":4.544755980654938,"self_endowment_contribution":0.8069846030310691,"citer_contribution":4.544755980654938,"corpus_percentile":96.13212655681906,"corpus_rank":501,"citation_count":216,"citer_count":100,"citers_with_citation_signal":100,"citers_with_endowment":100,"datacite_reuse_total":0,"is_dataset":true,"is_dataset_confidence":0.6886,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":244329,"name":"Larry Han","orcid":"0000-0002-0577-9661","position":1,"is_corresponding":false},{"id":5580,"name":"Sharlene M. Day","orcid":"0000-0001-9802-7188","position":2,"is_corresponding":false},{"id":232950,"name":"Iacopo Olivotto","orcid":"0000-0003-1751-9266","position":3,"is_corresponding":false},{"id":3451,"name":"Euan A. Ashley","orcid":"0000-0001-9418-9577","position":4,"is_corresponding":false},{"id":232952,"name":"Michelle Michels","orcid":"0000-0001-6432-0431","position":5,"is_corresponding":false},{"id":232958,"name":"Alexandre C. Pereira","orcid":"0000-0002-7782-5540","position":6,"is_corresponding":false},{"id":244330,"name":"Samuel G. Wittekind","orcid":"0000-0003-3192-0646","position":7,"is_corresponding":false},{"id":244331,"name":"Adam Helms","orcid":"0000-0002-0234-6430","position":8,"is_corresponding":false},{"id":244332,"name":"Sara Saberi","orcid":"0000-0003-4473-6725","position":9,"is_corresponding":false},{"id":232951,"name":"Daniel Jacoby","orcid":"0000-0002-9182-275X","position":10,"is_corresponding":false},{"id":230115,"name":"James S. Ware","orcid":"0000-0002-6110-5880","position":11,"is_corresponding":false},{"id":244333,"name":"Steven D. Colan","orcid":"0000-0002-7941-0947","position":12,"is_corresponding":false},{"id":244334,"name":"Christopher Semsarian","orcid":"0000-0001-6441-274X","position":13,"is_corresponding":false},{"id":244335,"name":"Jodie Ingles","orcid":"0000-0002-4846-7676","position":14,"is_corresponding":false},{"id":244336,"name":"Neal K. Lakdawala","orcid":"0000-0001-6458-5421","position":15,"is_corresponding":false},{"id":232956,"name":"Carolyn Y. Ho","orcid":"0000-0002-7334-7924","position":16,"is_corresponding":false},{"id":248057,"name":"For the SHaRe Investigators","orcid":null,"position":17,"is_corresponding":false},{"id":244328,"name":"Peter Marstrand","orcid":"0000-0003-1766-181X","position":0,"is_corresponding":true}],"reference_count":23,"raw_metadata":null,"created_at":"2026-07-18T20:38:25.860949Z","pmid":"32228044","pmcid":"PMC7182243","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":[]}