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.
Résumé
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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References
- Lamin and the heart.Heart. 2018; 104: 468-479
- Presentation and outcome of arrhythmic mitral valve prolapse.J Am Coll Cardiol. 2020; 76: 637-649
- 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
Article info
Publication history
Published online: April 29, 2021
Accepted:
April 22,
2021
Received:
January 31,
2021
Footnotes
See page 1653 for disclosure information.
Identification
Copyright
© 2021 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.
