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

Marianna Appignani, Mohammed Y. Khanji, Eloisa Arbustini, Liborio Stuppia, Laura Ceriello, Enrico Di Girolamo, Cesare Mantini, Sabina Gallina, C. Anwar A. Chahal, Fabrizio Ricci

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
JournalCanadian Journal of Cardiology
DOIs
Publication statusAccepted/In press - 2021

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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