Genetic mechanisms underlying arrhythmogenic mitral valve prolapse: Current and future perspectives

被引:5
作者
Levy, Sydney [1 ,2 ]
Dabbagh, Ghaith Sharaf [3 ,4 ]
Giudicessi, John R. [5 ,6 ,7 ]
Haqqani, Haris [8 ]
Khanji, Mohammed Y. [1 ,10 ,11 ]
Obeng-Gyimah, Edmond [12 ]
Betts, Megan N. [3 ]
Ricci, Fabrizio [13 ,14 ,15 ]
Asatryan, Babken [16 ]
Bouatia-Naji, Nabila [17 ]
Nazarian, Saman [18 ]
Chahal, C. Anwar A. [3 ,9 ,19 ,20 ]
机构
[1] Byram Hills High Sch, Armonk, NY USA
[2] Harvard Univ, Cambridge, MA USA
[3] WellSpan Hlth, Ctr Inherited Cardiovasc Dis, Lancaster, PA USA
[4] Univ Michigan, Div Cardiovasc Med, Ann Arbor, MI 48109 USA
[5] Mayo Clin, Div Heart Rhythm Serv, Rochester, MN USA
[6] Mayo Clin, Div Circulatory Failure, Dept Cardiovasc Med, Dept Mol Pharmacol, Rochester, MN USA
[7] Mayo Clin, Dept Expt Therapeut, Rochester, MN USA
[8] Prince Charles Hosp, Chermside, Australia
[9] Barts Hlth NHS Trust, Barts Heart Ctr, London, West Smithfield, England
[10] Queen Mary Univ London, William Harvey Res Inst, NIHR Barts Biomed Res Ctr, London, England
[11] Barts Hlth NHS Trust, Newham Univ Hosp, London, England
[12] WellSpan Hlth, VT & Complex Ablat Program, Clin Cardiac Electrophysiol, York, N Yorkshire, England
[13] G dAnnunzio Univ Chieti Pescara, Dept Neurosci Imaging & Clin Sci, Chieti, Italy
[14] Lund Univ, Dept Clin Sci, Malmo, Sweden
[15] Fdn Villaserena Ric, Citta S Angelo, Italy
[16] Johns Hopkins Univ, Sch Med, Dept Med, Div Cardiol, Baltimore, MD 21205 USA
[17] Univ Paris Cite, INSERM, PARCC, Paris, France
[18] Univ Penn, Perelman Sch Med, Div Cardiol, Philadelphia, PA 19104 USA
[19] Hosp Univ Penn, Cardiovasc Div, Cardiac Electrophysiol, 3400 Spruce St, Philadelphia, PA 19104 USA
[20] Mayo Clin, Dept Cardiovasc Med, Rochester, MN USA
来源
HEART RHYTHM O2 | 2023年 / 4卷 / 09期
关键词
Mitral valve prolapse; Cardiac arrhythmia; Sudden cardiac death; Genetics; Mitral annular dysjunction; VALVULAR DYSTROPHY; POSTERIOR LEAFLET; FILAMIN-A; MUTATIONS; ASSOCIATION; LOCUS; REGURGITATION;
D O I
10.1016/j.hroo.2023.08.003
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Mitral valve prolapse (MVP) is a heart valve disease that is often familial, affecting 2%-3% of the general population. MVP with or without mitral regurgitation can be associated with an increased risk of ventricular arrhythmias and sudden cardiac death (SCD). Research on familial MVP has specifically focused on genetic factors, which may explain the heritable component of the disease estimated to be present in 20%-35%. Furthermore, the structural and electrophysiological substrates underlying SCD/ventricular arrhythmia risk in MVP have been studied postmortem and in the electrophysiology laboratory, respectively. Understanding how familial MVP and rhythm disorders are related may help patients with MVP by individualizing risk and working to develop effective management strategies. This contemporary, state-of-the-art, expert review focuses on genetic factors and familial components that underlie MVP and arrhythmia and encapsulates clinical, genetic, and electrophysiological issues that should be the objectives of future research.
引用
收藏
页码:581 / 591
页数:11
相关论文
共 51 条
[1]   Screening of TGFBR1, TGFBR2, and FLNA in Familial Mitral Valve Prolapse [J].
Aalberts, Jan J. J. ;
van Tintelen, J. Peter ;
Oomen, Toon ;
Bergman, Jorieke E. H. ;
Halley, Dicky J. J. ;
Jongbloed, Jan D. H. ;
Suurmeijer, Albert J. H. ;
van den Berg, Maarten P. .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2014, 164 (01) :113-119
[2]   Is Occult Genetic Substrate the Missing Link Between Arrhythmic Mitral Annular Disjunction Syndrome and Sudden Cardiac Death? [J].
Appignani, Marianna ;
Khanji, Mohammed Y. ;
Arbustini, Eloisa ;
Stuppia, Liborio ;
Ceriello, Laura ;
Di Girolamo, Enrico ;
Mantini, Cesare ;
Gallina, Sabina ;
Chahal, C. Anwar A. ;
Ricci, Fabrizio .
CANADIAN JOURNAL OF CARDIOLOGY, 2021, 37 (10) :1651-1653
[3]   Natural history of asymptomatic mitral valve prolapse in the community [J].
Avierinos, JF ;
Gersh, BJ ;
Melton, LJ ;
Bailey, KR ;
Shub, C ;
Nishimura, RA ;
Tajik, AJ ;
Enriquez-Sarano, M .
CIRCULATION, 2002, 106 (11) :1355-1361
[4]   A Novel Truncating Variant in FLNC-Encoded Filamin C May Serve as a Proarrhythmic Genetic Substrate for Arrhythmogenic Bileaflet Mitral Valve Prolapse Syndrome [J].
Bains, Sahej ;
Tester, David J. ;
Asirvatham, Samuel J. ;
Noseworthy, Peter A. ;
Ackerman, Michael J. ;
Giudicessi, John R. .
MAYO CLINIC PROCEEDINGS, 2019, 94 (05) :906-913
[5]   Mitral valve regurgitation in twins: Concordance and survival [J].
Bakkestrom, Rine ;
Larsen, Lisbeth Aagaard ;
Moller, Jacob Eifer ;
Videbaek, Lars ;
Hjelmborgb, Jacob V. B. ;
Christensen, Kaare .
AMERICAN HEART JOURNAL, 2016, 177 :51-57
[6]   ANEURYSMAL PROTRUSION OF POSTERIOR LEAFLET OF MITRAL VALVE - AN AUSCULTATORY-ELECTROCARDIOGRAPHIC SYNDROME [J].
BARLOW, JB ;
BOSMAN, CK .
AMERICAN HEART JOURNAL, 1966, 71 (02) :166-&
[7]  
BARLOW JB, 1968, BRIT HEART J, V30, P203
[8]   Mitral Valve Prolapse, Ventricular Arrhythmias, and Sudden Death [J].
Basso, Cristina ;
Iliceto, Sabino ;
Thiene, Gaetano ;
Marra, Martina Perazzolo .
CIRCULATION, 2019, 140 (11) :952-964
[9]   Arrhythmic Mitral Valve Prolapse and Sudden Cardiac Death [J].
Basso, Cristina ;
Marra, Martina Perazzolo ;
Rizzo, Stefania ;
De lazzari, Manuel ;
Giorgi, Benedetta ;
Cipriani, Alberto ;
Frigo, Anna Chiara ;
Rigato, Ilaria ;
Migliore, Federico ;
Pilichou, Kalliopi ;
Bertaglia, Emanuele ;
Cacciavillani, Luisa ;
Bauce, Barbara ;
Corrado, Domenico ;
Thiene, Gaetano ;
Iliceto, Sabino .
CIRCULATION, 2015, 132 (07) :556-566
[10]  
Dabbagh G.S., 2023, Genet Med, V1, DOI 10.1016/j.gimo.2023.100331