Appignani Marianna, Khanji Mohammed Y, Arbustini Eloisa, Stuppia Liborio, Ceriello Laura, Girolamo Enrico Di, Mantini Cesare, Gallina Sabina, Chahal C Anwar A, Ricci Fabrizio
SS. Annunziata Hospital, Chieti, Italy.
Barts Heart Centre, Barts Health NHS Trust, London, United Kingdom.
Can J Cardiol. 2021 Oct;37(10):1651-1653. doi: 10.1016/j.cjca.2021.04.014. Epub 2021 Apr 29.
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.
我们报告了一例28岁男性病例，该患者有不明原因晕厥、频发室性心律失常、家族性与LMNA相关的扩张型心肌病（DCM）以及二尖瓣环分离（MAD）病史。我们首次发现一种新型截短型LMNA变异体与致心律失常性MAD综合征的潜在易损基质相关。这可能提示隐匿性基因变异（导致纤维化作为心律失常发生的“基质”）与二尖瓣环分离的存在（机械拉伸引发室性心律失常的“触发因素”）之间可能存在协同作用，这可能为二尖瓣脱垂与心源性猝死之间提供联系。
