Canadian Journal of Cardiology
Case Report| Volume 37, ISSUE 10, P1651-1653, October 2021

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

Published:April 29, 2021DOI:


      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.


      Nous présentons le cas d'un homme de 28 ans ayant des antécédents de syncope inexpliquée, d'arythmies ventriculaires fréquentes, de cardiomyopathie dilatée (CMD) familiale liée au LMNA et de disjonction annulaire mitrale (DAM). Nous fournissons la première association d'une nouvelle variante tronquée de LMNA servant de substrat vulnérable potentiel pour le syndrome DAM arythmogène. Cela pourrait indiquer un rôle synergique possible entre les variantes génétiques dissimulées (entraînant une fibrose comme « substrat » pour l'arythmogenèse) et la présence d'une disjonction annulaire mitrale (le « déclencheur » avec un étirement mécanique provoquant les arythmies ventriculaires), et permettrait de faire le lien entre le prolapsus de la valve mitrale et la mort cardiaque subite.
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        • Captur G
        • Arbustini E
        • Bonne G
        • et al.
        Lamin and the heart.
        Heart. 2018; 104: 468-479
        • Essayagh B
        • Sabbag A
        • Antoine C
        • et al.
        Presentation and outcome of arrhythmic mitral valve prolapse.
        J Am Coll Cardiol. 2020; 76: 637-649
        • Bains S
        • Tester DJ
        • Asirvatham SJ
        • et al.
        A novel truncating variant in flnc-encoded filamin c may serve as a proarrhythmic genetic substrate for arrhythmogenic bileaflet mitral valve prolapse syndrome.
        Mayo Clin Proc. 2019; 94: 906-913