دورية أكاديمية
أعرض في EDS

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

التفاصيل البيبلوغرافية
العنوان: Phospholamban p.Leu39* Cardiomyopathy Compared with Other Sarcomeric Cardiomyopathies: Age-Matched Patient Cohorts and Literature Review.
المؤلفون: Afana AS; Expert Center for Genetic Cardiovascular Diseases, Emergency Institute for Cardiovascular Diseases, 258 Fundeni Street, 022328 Bucharest, Romania.; Emergency Clinical County Hospital Craiova, 1 Tabaci Street, 200642 Craiova, Romania.; Cardiology Department, University of Medicine and Pharmacy Craiova, 2 Petru Rares Street, 200349 Craiova, Romania., Vasiliu L; Institute of Cardiovascular Diseases 'Prof. Dr. George I.M. Georgescu', 700503 Iași, Romania.; Cardiology Department, University of Medicine and Pharmacy 'Grigore T. Popa', 700115 Iași, Romania., Sascău R; Institute of Cardiovascular Diseases 'Prof. Dr. George I.M. Georgescu', 700503 Iași, Romania.; Cardiology Department, University of Medicine and Pharmacy 'Grigore T. Popa', 700115 Iași, Romania., Adam RD; Expert Center for Genetic Cardiovascular Diseases, Emergency Institute for Cardiovascular Diseases, 258 Fundeni Street, 022328 Bucharest, Romania.; Cardiology Department, University of Medicine and Pharmacy 'Carol Davila', 8 Eroii Sanitari Blvd., 050474 Bucharest, Romania., Rădulescu C; Cardiology Department, University of Medicine and Pharmacy 'Carol Davila', 8 Eroii Sanitari Blvd., 050474 Bucharest, Romania.; Emerald Medical Center, 75 Nicolae G. Caramfil Street, 077190 Bucharest, Romania., Onciul S; Cardiology Department, University of Medicine and Pharmacy 'Carol Davila', 8 Eroii Sanitari Blvd., 050474 Bucharest, Romania.; Emerald Medical Center, 75 Nicolae G. Caramfil Street, 077190 Bucharest, Romania.; Emergency Clinical Hospital Floreasca, 8 Calea Floreasca, 014461 Bucharest, Romania., Cinteză E; Cardiology Department, University of Medicine and Pharmacy 'Carol Davila', 8 Eroii Sanitari Blvd., 050474 Bucharest, Romania.; Department of Pediatric Cardiology, 'Marie Curie' Emergency Children's Hospital, 41451 Bucharest, Romania., Chirita-Emandi A; 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.; Regional Center of Medical Genetics Timiș, Clinical Emergency Hospital for Children 'Louis Țurcanu' Timișoara, 2 Doctor Iosif Nemoianu Street, 300011 Timișoara, Romania., Jurcuț R; Expert Center for Genetic Cardiovascular Diseases, Emergency Institute for Cardiovascular Diseases, 258 Fundeni Street, 022328 Bucharest, Romania.; Cardiology Department, University of Medicine and Pharmacy 'Carol Davila', 8 Eroii Sanitari Blvd., 050474 Bucharest, Romania.
المصدر: Journal of cardiovascular development and disease [J Cardiovasc Dev Dis] 2024 Jan 28; Vol. 11 (2). Date of Electronic Publication: 2024 Jan 28.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101651414 Publication Model: Electronic Cited Medium: Internet ISSN: 2308-3425 (Electronic) Linking ISSN: 23083425 NLM ISO Abbreviation: J Cardiovasc Dev Dis Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: Basel, Switzerland : MDPI AG
مستخلص: 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.
References: Glob Cardiol Sci Pract. 2015 Jul 03;2015(2):29. (PMID: 26535225)
Science. 2003 Feb 28;299(5611):1410-3. (PMID: 12610310)
Circ Cardiovasc Genet. 2017 Jun;10(3):. (PMID: 28600387)
Genet Med. 2017 Feb;19(2):192-203. (PMID: 27532257)
Lancet. 2017 Jul 22;390(10092):400-414. (PMID: 28190577)
J Biol Chem. 1991 Jun 25;266(18):11669-75. (PMID: 1828805)
Heart Rhythm. 2017 Jul;14(7):1024-1032. (PMID: 28365402)
Ann Med. 2000 Nov;32(8):572-8. (PMID: 11127935)
J Mol Cell Cardiol. 2007 Sep;43(3):337-43. (PMID: 17655857)
Eur J Heart Fail. 2007 Jan;9(1):37-43. (PMID: 16829191)
Cardiovasc Pathol. 2019 May - Jun;40:2-6. (PMID: 30763825)
Circ Res. 1996 Dec;79(6):1059-63. (PMID: 8943944)
J Clin Invest. 2003 Mar;111(6):869-76. (PMID: 12639993)
Nat Rev Cardiol. 2022 Mar;19(3):151-167. (PMID: 34526680)
Eur J Clin Invest. 2010 Apr;40(4):360-9. (PMID: 20503496)
Genet Med. 2015 May;17(5):405-24. (PMID: 25741868)
Am J Cardiol. 2013 Oct 15;112(8):1197-206. (PMID: 23871674)
Sci Rep. 2016 Feb 26;6:22235. (PMID: 26917049)
Physiol Rev. 1998 Oct;78(4):921-47. (PMID: 9790566)
Neth Heart J. 2013 Jun;21(6):286-93. (PMID: 23568436)
Nat Genet. 2021 Feb;53(2):128-134. (PMID: 33495596)
Trends Biochem Sci. 1998 Jan;23(1):10-4. (PMID: 9478128)
Int J Mol Sci. 2022 Jun 22;23(13):. (PMID: 35805951)
Circ Cardiovasc Genet. 2014 Aug;7(4):455-65. (PMID: 24909667)
Am Heart J. 2011 Jan;161(1):165-71. (PMID: 21167350)
FASEB J. 2003 Jan;17(1):61-3. (PMID: 12424227)
Eur J Heart Fail. 2012 Nov;14(11):1199-207. (PMID: 22820313)
JAMA. 1996 Jul 17;276(3):199-204. (PMID: 8667563)
Eur Heart J. 2023 Oct 1;44(37):3503-3626. (PMID: 37622657)
Genet Med. 2015 Nov;17(11):880-8. (PMID: 25611685)
Eur Heart J. 2021 Jul 31;42(29):2842-2850. (PMID: 34113975)
Neth Heart J. 2013 Jun;21(6):284-5. (PMID: 23595706)
Hum Mol Genet. 2002 Oct 1;11(20):2499-506. (PMID: 12351586)
فهرسة مساهمة: Keywords: genetic testing; hypertrophic cardiomyopathy; phospholamban
تواريخ الأحداث: Date Created: 20240223 Latest Revision: 20240225
رمز التحديث: 20240225
مُعرف محوري في PubMed: PMC10889724
DOI: 10.3390/jcdd11020041
PMID: 38392255
قاعدة البيانات: MEDLINE
الوصف
تدمد:2308-3425
DOI:10.3390/jcdd11020041