Is Occult Genetic Substrate the Missing Link Between Arrhythmic Mitral Annular Disjunction Syndrome and Sudden Cardiac Death?

被引：14

作者：

Appignani, Marianna ^{[1
]}

Khanji, Mohammed Y. ^{[2
]}

Arbustini, Eloisa ^{[3
]}

Stuppia, Liborio ^{[4
]}

Ceriello, Laura ^{[1
]}

Di Girolamo, Enrico ^{[1
]}

Mantini, Cesare ^{[1
]}

Gallina, Sabina ^{[5
]}

Chahal, C. Anwar A. ^{[6
]}

Ricci, Fabrizio ^{[5
]}

机构：

[1] SS Annunziata Hosp, Chieti, Italy

[2] Barts Hlth NHS Trust, Barts Heart Ctr, London, England

[3] Univ Pavia, Fdn IRCCS Policlin San Matteo, Pavia, Italy

[4] G Annunzio Univ Chieti Pescara, Dept Psychol Hlth & Territorial Sci, Hlth & Territorial Sci, Chieti, Italy

[5] G Annunzio Univ Chieti Pescara, Dept Neurosci Imaging & Clin Sci, Via Vestini 33, I-66013 Chieti, Italy

[6] Univ Penn, Dept Cardiol, Philadelphia, PA 19104 USA

来源：

CANADIAN JOURNAL OF CARDIOLOGY | 2021年 / 37卷 / 10期

关键词：

D O I：

10.1016/j.cjca.2021.04.014

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We present the case of a 28-year-old man with a history of unexplained syncope, frequent ventricular arrhythmias, familial LMNA-related dilated cardiomyopathy (DCM), and mitral annular disjunction (MAD). We provide the first association of a novel truncating LMNA variant serving as a potential vulnerable substrate for arrhythmogenic MAD syndrome. This could suggest a possible synergistic role between concealed genetic variants (resulting in fibrosis as a "substrate" for arrhythmogenesis) and the presence of mitral annular disjunction (the "trigger" with mechanical stretch initiating ventricular arrhythmias), which may provide a link between mitral valve prolapse and sudden cardiac death.

引用

页码：1651 / 1653

页数：3

共 3 条

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Noseworthy, Peter A. ;

Ackerman, Michael J. ;

Giudicessi, John R. .

MAYO CLINIC PROCEEDINGS, 2019, 94 (05) :906-913

[2]

Camaioni C, 2017, HEART, V103, pA4, DOI [10.1136/heartjnl-2017-312338, 10.1136/heartjnl-2017-311399.4]

[3] Presentation and Outcome of Arrhythmic Mitral Valve Prolapse [J].

Essayagh, Benjamin ;

Sabbag, Avi ;

Antoine, Clemence ;

Benfari, Giovanni ;

Yang, Li-Tan ;

Maalouf, Joseph ;

Asirvatham, Samuel ;

Michelena, Hector ;

Enriquez-Sarano, Maurice .

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2020, 76 (06) :637-649

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