2019
DOI: 10.1016/j.mayocp.2018.11.028
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A Novel Truncating Variant in FLNC-Encoded Filamin C May Serve as a Proarrhythmic Genetic Substrate for Arrhythmogenic Bileaflet Mitral Valve Prolapse Syndrome

Abstract: A 51-year-old man with a long-standing history of bileaflet mitral valve prolapse accompanied by mitral annular disjunction and mild mitral regurgitation presented for evaluation of increasingly frequent palpitations. Ambulatory Holter monitoring, cardiac magnetic resonance imaging, serial transthoracic echocardiography, and diagnostic electrophysiology studies were consistent with a diagnosis of arrhythmogenic bileaflet mitral valve prolapse syndrome. Because of the presence of a similar phenotype in the prob… Show more

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Cited by 54 publications
(38 citation statements)
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“…One patient with arrhythmogenic bileaflet mitral valve prolapse syndrome (ABiMVPS) was recently reported in association with a truncating variant (p.Trp34*) identified in whole-exome sequencing data (Bains et al, 2019). It was speculated that FLNC haploinsufficiency was the underlying arrhythmogenic substrate, which was exacerbated by the mitral valve prolapse.…”
Section: Other Cardiac Phenotypesmentioning
confidence: 99%
“…One patient with arrhythmogenic bileaflet mitral valve prolapse syndrome (ABiMVPS) was recently reported in association with a truncating variant (p.Trp34*) identified in whole-exome sequencing data (Bains et al, 2019). It was speculated that FLNC haploinsufficiency was the underlying arrhythmogenic substrate, which was exacerbated by the mitral valve prolapse.…”
Section: Other Cardiac Phenotypesmentioning
confidence: 99%
“…More importantly, family screening should be advised, as for our patient whose sister was also consequently diagnosed with MVP. A familial distribution of MVP has been largely documented especially in Barlow's patients [16,17] and four genes are known so far to be linked to MVP; interestingly, also an association of isolated MVP and mutations in cardiomyopathy genes was observed, further supporting the important role of myocardial involvement in the disease [18,19]. Finally, the possibility of testing specific biomarkers might be offered in the future; for example, initial observations showed the soluble suppression of tumourigenicity-2-serum level (sST2), as a marker of the stretched myocardium, to be higher in patients with mitral annular disjunction and VA [20].…”
Section: How To Improve Risk Stratification For Ventricular Arrhythmimentioning
confidence: 89%
“…One case report implicated a truncating variant in the FLNC-encoded filamin C, an actin-binding protein critical for structural integrity of the sarcomere in cardiac and skeletal muscle, as a potential proarrhythmic genetic substrate for arrhythmogenic bileaflet MVP syndrome. 4 Similar to MVP, MAD has been associated with an arrhythmic syndrome with a high prevalence of ventricular arrhythmia (34%) independent of MVP. 2 Potential markers for ventricular arrhythmia are younger age, previous syncope, more premature ventricular contraction, papillary muscle fibrosis, and larger longitudinal MAD distance in the posterolateral wall assessed by cardiovascular magnetic resonance imaging.…”
Section: Discussionmentioning
confidence: 99%