Genetics in Probands With Idiopathic Ventricular Fibrillation

Pannone, Luigi; Gauthey, Anaïs; Conte, Giulio; Osei, Randy; Campanale, Daniela; Baldi, Enrico; Berne, Paola; Vicentini, Alessandro; Vergara, Pasquale; Sorgente, Antonio; Rootwelt‐Norberg, Christine; Rocca, Domenico G. Della; Monaco, Cinzia; Bisignani, Antonio; Miraglia, Vincenzo; Spolverini, Marcello; Paparella, Gaetano; Overeinder, Ingrid; Bala, Gezim; Almorad, Alexandre; Ströker, Erwin; Ravel, Thomy de; Medeiros-Domingo, Argelia; Sieira, Juan; Haugaa, Kristina H.; Brugada, Pedro; Meir, Mark La; Auricchio, Angelo; Chierchia, Gian‐Battista; Dooren, Sonia Van; Asmundis, Carlo de

doi:10.1016/j.jacep.2023.03.008

Cited by 7 publications

(3 citation statements)

References 38 publications

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“…Unfortunately, the detailed results of the genetic evaluation as the nucleotide and the aminoacidic change are currently not available. Given the recent findings by Pannone and colleagues, 9 it is important to mention that this is a finding of significant clinical relevance, as this seminal paper demonstrated for the first time that both VUS carriers and pathogenic/likely pathogenic carriers have a worse ventricular arrhythmic prognosis in probands with idiopathic VF. It is important to acknowledge the limitations of the ACMG classification when classifying variants as VUS vs pathogenic/likely pathogenic, specifically in cases with idiopathic PVT/VF, as some variants are likely to be underestimated.…”

Section: Discussionmentioning

confidence: 72%

Recurrent premature ventricular complex–triggered idiopathic polymorphic ventricular arrhythmias in a patient with a structurally normal heart

Zeman,

Pettinato,

Ladha

et al. 2023

HeartRhythm Case Reports

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Section: Discussionmentioning

confidence: 72%

Recurrent premature ventricular complex–triggered idiopathic polymorphic ventricular arrhythmias in a patient with a structurally normal heart

Zeman,

Pettinato,

Ladha

et al. 2023

HeartRhythm Case Reports

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“…In general, genetic testing in IVF patients identifies a (likely) pathogenic DNA variant in ~6–10% of these patients [ 17 , 21 , 28 ]. Numbers can increase dramatically when SCA survivors are younger [ 2 , 8 ].…”

Section: Genetic Testing In Sca Survivorsmentioning

confidence: 99%

“…VUS can create a lot of “fuzz” not only for doctors but also for patients when they are informed about them [ 24 ]. However, the question remains as to what the true meaning of a VUS is, especially since correlation with the likelihood of ventricular arrhythmia recurrence has been noted [ 21 ], and ultimately, VUS may turn out to be pathogenic [ 17 ].…”

Section: Genetic Testing In Sca Survivorsmentioning

confidence: 99%

Idiopathic ventricular fibrillation: is it a case for genetic testing?

van der Crabben,

Wilde

2024

Herzschr Elektrophys

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Idiopathic ventricular fibrillation (IVF) is a diagnosis of exclusion in sudden cardiac arrest (SCA) survivors. Although there are clear guidelines on the clinical work-up of SCA survivors, less than one in five patients receives a complete work-up. This increases the chances of erroneously labelling these patients as having IVF, while 10–20% of them have an inherited cardiac condition (ICC). Diagnoses of ICC increase over time due to (additional) deep phenotyping or as a result of spontaneous expression of ICC over time. As SCA survivors can also harbor (likely) pathogenic variants in cardiomyopathy-associated genes in the absence of a phenotype, or can have another ICC without a clear cardiac phenotype, the question arises as to whether genetic testing in this group should be routinely performed. Family history (mainly in the case of sudden death) can increase suspicion of an ICC in an SCA victim, but does not add great value when adults underwent a complete cardiological work-up. The diagnosis of ICC has treatment consequences not only for the patient but also for their family. Genetic diagnostic yield does not appear to increase with larger gene panels, but variants of unknown significance (VUS) do. Although VUS can be confusing, careful and critical segregation analysis in the family can be performed when discussed in a multidisciplinary team at a center of expertise with at least a cardiologist as well as a clinical and laboratory geneticist, thereby degrading or promoting VUS. When to introduce genetic testing in SCA survivors remains a matter of debate, but the combination of quick, deep phenotyping with additional genetic testing for the unidentifiable phenotypes, especially in the young, seems preferable.

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Is it possible to identify patients at risk of idiopathic ventricular fibrillation?

Belhassen

2024

Heart Rhythm

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Genetics in Probands With Idiopathic Ventricular Fibrillation

Cited by 7 publications

References 38 publications

Recurrent premature ventricular complex–triggered idiopathic polymorphic ventricular arrhythmias in a patient with a structurally normal heart

Recurrent premature ventricular complex–triggered idiopathic polymorphic ventricular arrhythmias in a patient with a structurally normal heart

Idiopathic ventricular fibrillation: is it a case for genetic testing?

Is it possible to identify patients at risk of idiopathic ventricular fibrillation?

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