{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T03:52:39Z","timestamp":1791431559522,"version":"4.3.3"},"reference-count":37,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2024,1,28]],"date-time":"2024-01-28T00:00:00Z","timestamp":1706400000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCDD"],"abstract":"<jats:p>Hypertrophic cardiomyopathy (HCM) is a heterogeneous genetic disorder, most often caused by sarcomeric gene mutations, with a small proportion due to variants in non-sarcomeric loci. Phospholamban (PLN) is a phosphoprotein associated with the cardiac sarcoplasmic reticulum, a major determinant of cardiac contractility and relaxation. We conducted a retrospective study to determine the prevalence, phenotypical spectrum and clinical course of patients carrying the PLN p.Leu39* variant. A cohort including 11 PLN patients was identified among all patients with HCM (9\/189, 4.8%) and DCM (2\/62, 3.2%) who underwent genetic testing from two tertiary centers and five more were detected through cascade screening. Complete phenotyping was performed. PLN p.Leu39* variant-driven cardiomyopathy presented mostly as hypertrophic, with frequent progression to end-stage dilated HCM. We proceeded to compare these results to a similar analysis of a control cohort consisting of age-matched individuals that inherited pathogenic or likely pathogenic variants in common sarcomeric genes (MYBPC3\/MYH7). Overall, the clinical characteristics and examination findings of patients carrying PLN p.Leu39* were not different from patients with cardiomyopathy related to sarcomeric mutations except for the presence of pathological Q waves and the incidence of non-sustained ventricular arrhythmias, which were higher in PLN patients than in those with MYBPC3\/MYH7-related diseases.<\/jats:p>","DOI":"10.3390\/jcdd11020041","type":"journal-article","created":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T12:25:01Z","timestamp":1706531101000},"page":"41","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Phospholamban p.Leu39* Cardiomyopathy Compared with Other Sarcomeric Cardiomyopathies: Age-Matched Patient Cohorts and Literature Review"],"prefix":"10.3390","volume":"11","author":[{"given":"Andreea Sorina","family":"Afana","sequence":"first","affiliation":[{"name":"Expert Center for Genetic Cardiovascular Diseases, Emergency Institute for Cardiovascular Diseases, 258 Fundeni Street, 022328 Bucharest, Romania"},{"name":"Emergency Clinical County Hospital Craiova, 1 Tabaci Street, 200642 Craiova, Romania"},{"name":"Cardiology Department, University of Medicine and Pharmacy Craiova, 2 Petru Rares Street, 200349 Craiova, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1547-3620","authenticated-orcid":false,"given":"Laura","family":"Vasiliu","sequence":"additional","affiliation":[{"name":"Institute of Cardiovascular Diseases \u201cProf. Dr. George I.M. Georgescu\u201d, 700503 Ia\u0219i, Romania"},{"name":"Cardiology Department, University of Medicine and Pharmacy \u201cGrigore T. Popa\u201d, 700115 Ia\u0219i, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Radu","family":"Sasc\u0103u","sequence":"additional","affiliation":[{"name":"Institute of Cardiovascular Diseases \u201cProf. Dr. George I.M. Georgescu\u201d, 700503 Ia\u0219i, Romania"},{"name":"Cardiology Department, University of Medicine and Pharmacy \u201cGrigore T. Popa\u201d, 700115 Ia\u0219i, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5018-1482","authenticated-orcid":false,"given":"Robert Daniel","family":"Adam","sequence":"additional","affiliation":[{"name":"Expert Center for Genetic Cardiovascular Diseases, Emergency Institute for Cardiovascular Diseases, 258 Fundeni Street, 022328 Bucharest, Romania"},{"name":"Cardiology Department, University of Medicine and Pharmacy \u201cCarol Davila\u201d, 8 Eroii Sanitari Blvd., 050474 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4625-9344","authenticated-orcid":false,"given":"Cristina","family":"R\u0103dulescu","sequence":"additional","affiliation":[{"name":"Cardiology Department, University of Medicine and Pharmacy \u201cCarol Davila\u201d, 8 Eroii Sanitari Blvd., 050474 Bucharest, Romania"},{"name":"Emerald Medical Center, 75 Nicolae G. Caramfil Street, 077190 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1729-0126","authenticated-orcid":false,"given":"Sebastian","family":"Onciul","sequence":"additional","affiliation":[{"name":"Cardiology Department, University of Medicine and Pharmacy \u201cCarol Davila\u201d, 8 Eroii Sanitari Blvd., 050474 Bucharest, Romania"},{"name":"Emerald Medical Center, 75 Nicolae G. Caramfil Street, 077190 Bucharest, Romania"},{"name":"Emergency Clinical Hospital Floreasca, 8 Calea Floreasca, 014461 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3239-0704","authenticated-orcid":false,"given":"Eliza","family":"Cintez\u0103","sequence":"additional","affiliation":[{"name":"Cardiology Department, University of Medicine and Pharmacy \u201cCarol Davila\u201d, 8 Eroii Sanitari Blvd., 050474 Bucharest, Romania"},{"name":"Department of Pediatric Cardiology, \u201cMarie Curie\u201d Emergency Children\u2019s Hospital, 41451 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7554-4625","authenticated-orcid":false,"given":"Adela","family":"Chirita-Emandi","sequence":"additional","affiliation":[{"name":"Department of Microscopic Morphology, Genetics Discipline, Center of Genomic Medicine, University of Medicine and Pharmacy \u201cVictor Babe\u0219\u201d Timi\u0219oara, 2 Pia\u0163a Eftimie Murgu Street, 300041 Timi\u015foara, Romania"},{"name":"Regional Center of Medical Genetics Timi\u0219, Clinical Emergency Hospital for Children \u201cLouis \u021aurcanu\u201d Timi\u0219oara, 2 Doctor Iosif Nemoianu Street, 300011 Timi\u0219oara, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruxandra","family":"Jurcu\u021b","sequence":"additional","affiliation":[{"name":"Expert Center for Genetic Cardiovascular Diseases, Emergency Institute for Cardiovascular Diseases, 258 Fundeni Street, 022328 Bucharest, Romania"},{"name":"Cardiology Department, University of Medicine and Pharmacy \u201cCarol Davila\u201d, 8 Eroii Sanitari Blvd., 050474 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,1,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1001\/jama.1996.03540030033028","article-title":"Sudden death in young competitive athletes. 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