Phospholamban p.Leu39* Cardiomyopathy Compared with Other Sarcomeric Cardiomyopathies: Age-Matched Patient Cohorts and Literature Review

Afana, Andreea Sorina; Vasiliu, Laura; Sascău, Radu; Adam, Robert Daniel; Rădulescu, Cristina; Onciul, Sebastian; Cinteză, Eliza; Chirita-Emandi, Adela; Jurcuț, Ruxandra

doi:10.3390/jcdd11020041

Open AccessArticle

Phospholamban p.Leu39* Cardiomyopathy Compared with Other Sarcomeric Cardiomyopathies: Age-Matched Patient Cohorts and Literature Review

by

Andreea Sorina Afana

^1,2,3,

Laura Vasiliu

^4,5

,

Radu Sascău

^4,5,

Robert Daniel Adam

^1,6

,

Cristina Rădulescu

^6,7

,

Sebastian Onciul

^6,7,8

,

Eliza Cinteză

^6,9

,

Adela Chirita-Emandi

^10,11

and

Ruxandra Jurcuț

^1,6,*

¹

Expert Center for Genetic Cardiovascular Diseases, Emergency Institute for Cardiovascular Diseases, 258 Fundeni Street, 022328 Bucharest, Romania

²

Emergency Clinical County Hospital Craiova, 1 Tabaci Street, 200642 Craiova, Romania

³

Cardiology Department, University of Medicine and Pharmacy Craiova, 2 Petru Rares Street, 200349 Craiova, Romania

⁴

Institute of Cardiovascular Diseases “Prof. Dr. George I.M. Georgescu”, 700503 Iași, Romania

⁵

Cardiology Department, University of Medicine and Pharmacy “Grigore T. Popa”, 700115 Iași, Romania

⁶

Cardiology Department, University of Medicine and Pharmacy “Carol Davila”, 8 Eroii Sanitari Blvd., 050474 Bucharest, Romania

⁷

Emerald Medical Center, 75 Nicolae G. Caramfil Street, 077190 Bucharest, Romania

⁸

Emergency Clinical Hospital Floreasca, 8 Calea Floreasca, 014461 Bucharest, Romania

⁹

Department of Pediatric Cardiology, “Marie Curie” Emergency Children’s Hospital, 41451 Bucharest, Romania

¹⁰

Department of Microscopic Morphology, Genetics Discipline, Center of Genomic Medicine, University of Medicine and Pharmacy “Victor Babeș” Timișoara, 2 Piaţa Eftimie Murgu Street, 300041 Timişoara, Romania

¹¹

Regional Center of Medical Genetics Timiș, Clinical Emergency Hospital for Children “Louis Țurcanu” Timișoara, 2 Doctor Iosif Nemoianu Street, 300011 Timișoara, Romania

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J. Cardiovasc. Dev. Dis. 2024, 11(2), 41; https://doi.org/10.3390/jcdd11020041

Submission received: 2 January 2024 / Revised: 21 January 2024 / Accepted: 26 January 2024 / Published: 28 January 2024

(This article belongs to the Special Issue Hypertrophic Cardiomyopathy: Pathogenesis, Diagnosis and Management)

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Abstract

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.

Keywords: phospholamban; hypertrophic cardiomyopathy; genetic testing

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MDPI and ACS Style

Afana, A.S.; Vasiliu, L.; Sascău, R.; Adam, R.D.; Rădulescu, C.; Onciul, S.; Cinteză, E.; Chirita-Emandi, A.; Jurcuț, R. Phospholamban p.Leu39* Cardiomyopathy Compared with Other Sarcomeric Cardiomyopathies: Age-Matched Patient Cohorts and Literature Review. J. Cardiovasc. Dev. Dis. 2024, 11, 41. https://doi.org/10.3390/jcdd11020041

AMA Style

Afana AS, Vasiliu L, Sascău R, Adam RD, Rădulescu C, Onciul S, Cinteză E, Chirita-Emandi A, Jurcuț R. Phospholamban p.Leu39* Cardiomyopathy Compared with Other Sarcomeric Cardiomyopathies: Age-Matched Patient Cohorts and Literature Review. Journal of Cardiovascular Development and Disease. 2024; 11(2):41. https://doi.org/10.3390/jcdd11020041

Chicago/Turabian Style

Afana, Andreea Sorina, Laura Vasiliu, Radu Sascău, Robert Daniel Adam, Cristina Rădulescu, Sebastian Onciul, Eliza Cinteză, Adela Chirita-Emandi, and Ruxandra Jurcuț. 2024. "Phospholamban p.Leu39* Cardiomyopathy Compared with Other Sarcomeric Cardiomyopathies: Age-Matched Patient Cohorts and Literature Review" Journal of Cardiovascular Development and Disease 11, no. 2: 41. https://doi.org/10.3390/jcdd11020041

APA Style

Afana, A. S., Vasiliu, L., Sascău, R., Adam, R. D., Rădulescu, C., Onciul, S., Cinteză, E., Chirita-Emandi, A., & Jurcuț, R. (2024). Phospholamban p.Leu39* Cardiomyopathy Compared with Other Sarcomeric Cardiomyopathies: Age-Matched Patient Cohorts and Literature Review. Journal of Cardiovascular Development and Disease, 11(2), 41. https://doi.org/10.3390/jcdd11020041

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Phospholamban p.Leu39* Cardiomyopathy Compared with Other Sarcomeric Cardiomyopathies: Age-Matched Patient Cohorts and Literature Review

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