Echocardiographic deformation imaging unmasks global and regional mechanical dysfunction in patients with idiopathic ventricular fibrillation: A multicenter case-control study

Groeneveld, Sanne A.; Ree, Martijn H. van der; Taha, Karim; Bruin-Bon, Rianne H.A. de; Teske, Arco J.; Bouma, Berto J.; Amin, Ahmad S.; Wilde, Arthur A.M.; Postema, Pieter G.; Hassink, Rutger J.

doi:10.1016/j.hrthm.2021.05.030

Cited by 9 publications

(9 citation statements)

References 33 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Studies have also identified cardiomyopathy gene variants in victims of sudden unexpected death with normal autopsies, with rates ranging from 2 to 12% in recent studies. 39 , 40 The mechanisms underlying ventricular arrhythmias and sudden death in such cases with cardiomyopathy gene variants without manifest cardiomyopathy remain largely unknown, possibly involving ultrastructural anomalies undetectable by routine clinical imaging 41 , 42 and/or standard autopsy as well as changes in cardiomyocyte electrophysiology and calcium-handling directly mediated by structural proteins 43 , as was elegantly demonstrated for PKP2 . 38 …”

Section: Discussionmentioning

confidence: 99%

Importance of genetic testing in unexplained cardiac arrest

Grondin

Davies

Cadrin‐Tourigny

et al. 2022

European Heart Journal

View full text Add to dashboard Cite

Aims Genetic testing is recommended in specific inherited heart diseases but its role remains unclear and it is not currently recommended in unexplained cardiac arrest (UCA). We sought to assess the yield and clinical utility of genetic testing in UCA using whole-exome sequencing (WES). Methods and results Survivors of UCA requiring external defibrillation were included from the Cardiac Arrest Survivor with Preserved Ejection fraction Registry. Whole-exome sequencing was performed, followed by assessment of rare variants in previously reported cardiovascular disease genes. A total of 228 UCA survivors (mean age at arrest 39 ± 13 years) were included. The majority were males (66%) and of European ancestry (81%). Following advanced clinical testing at baseline, the likely aetiology of cardiac arrest was determined in 21/228 (9%) cases. Whole-exome sequencing identified a pathogenic or likely pathogenic (P/LP) variant in 23/228 (10%) of UCA survivors overall, increasing the proportion of ‘explained’ cases from 9% only following phenotyping to 18% when combining phenotyping with WES. Notably, 13 (57%) of the 23 P/LP variants identified were located in genes associated with cardiomyopathy, in the absence of a diagnosis of cardiomyopathy at the time of arrest. Conclusions Genetic testing identifies a disease-causing variant in 10% of apparent UCA survivors. The majority of disease-causing variants was located in cardiomyopathy-associated genes, highlighting the arrhythmogenic potential of such variants in the absence of an overt cardiomyopathy diagnosis. The present study supports the use of genetic testing including assessment of arrhythmia and cardiomyopathy genes in survivors of UCA.

show abstract

Section: Discussionmentioning

confidence: 99%

Importance of genetic testing in unexplained cardiac arrest

Grondin

Davies

Cadrin‐Tourigny

et al. 2022

European Heart Journal

View full text Add to dashboard Cite

show abstract

“…Investigating patients diagnosed with IVF (after adequate clinical assessment as described above) with additional echocardiographic deformation imaging could unravel supplementary findings that lead to an alternate diagnosis. Groeneveld et al compared 47 IVF patients with 47 healthy controls (age and sex-matched) and analyzed echocardiograms with deformation imaging by 2-dimensional speckle tracking (the most commonly used tool) [ 45 , 46 ]. The authors showed both global and regional echocardiographic deformation abnormalities primarily in IVF patients ( Figure 3 ).…”

Section: The Use Of Multiple Imaging Modalitiesmentioning

confidence: 99%

“…In addition, the difference in left ventricular mechanical dispersion, a measure of the heterogeneity of myocardial contraction, may represent subtle fibrosis. Again, this could have been induced by the previous cardiac arrest, but could also be a sign of unrecognized cardiac disease [ 45 ]. Additional studies are necessary to investigate these findings in larger patient cohorts and discover the exact underlying etiology.…”

Section: The Use Of Multiple Imaging Modalitiesmentioning

confidence: 99%

“…Besides global deformation abnormalities, regional deformation abnormalities were also found. It should be further investigated if these abnormalities are caused by structural or localized electrical abnormalities [ 45 ]. Last, when focusing on right ventricular deformation imaging with three distinct deformation patterns previously characterized by Mast et al ( Figure 4 ), abnormal patterns were again more abundant in IVF patients [ 47 ].…”

Section: The Use Of Multiple Imaging Modalitiesmentioning

confidence: 99%

“…2CH: 2-chamber; 4CH: 4-chamber; APLAX: apical long axis; RV: right ventricular. Adapted with permission from Groeneveld et al [ 45 ].…”

Section: Figurementioning

confidence: 99%

See 2 more Smart Citations

State-of-the-Art Multimodality Imaging in Sudden Cardiac Arrest with Focus on Idiopathic Ventricular Fibrillation: A Review

Verheul

Groeneveld

Kirkels

et al. 2022

JCM

Self Cite

View full text Add to dashboard Cite

Idiopathic ventricular fibrillation is a rare cause of sudden cardiac arrest and a diagnosis by exclusion. Unraveling the mechanism of ventricular fibrillation is important for targeted management, and potentially for initiating family screening. Sudden cardiac arrest survivors undergo extensive clinical testing, with a growing role for multimodality imaging, before diagnosing “‘idiopathic” ventricular fibrillation. Multimodality imaging, considered as using multiple imaging modalities as diagnostics, is important for revealing structural myocardial abnormalities in patients with cardiac arrest. This review focuses on combining imaging modalities (echocardiography, cardiac magnetic resonance and computed tomography) and the electrocardiographic characterization of sudden cardiac arrest survivors and discusses the surplus value of multimodality imaging in the diagnostic routing of these patients. We focus on novel insights obtained through electrostructural and/or electromechanical imaging in apparently idiopathic ventricular fibrillation patients, with special attention to non-invasive electrocardiographic imaging.

show abstract

The Dutch Idiopathic Ventricular Fibrillation Registry: progress report on the quest to identify the unidentifiable

Verheul,

Groeneveld,

Stoks

et al. 2024

Neth Heart J

Self Cite

View full text Add to dashboard Cite

Background Idiopathic ventricular fibrillation (iVF) is a rare cause of sudden cardiac arrest and, by definition, a diagnosis of exclusion. Due to the rarity of the disease, previous and current studies are limited by their retrospective design and small patient numbers. Even though the incidence of iVF has declined owing to the identification of new disease entities, an important subgroup of patients remains. Aim To expand the existing Dutch iVF Registry into a large nationwide cohort of patients initially diagnosed with iVF, to reveal the underlying cause of iVF in these patients, and to improve arrhythmia management. Methods The Dutch iVF Registry includes sudden cardiac arrest survivors with an initial diagnosis of iVF. Clinical data and outcomes are collected. Outcomes include subsequent detection of a diagnosis other than ‘idiopathic’, arrhythmia recurrence and death. Non-invasive electrocardiographic imaging is used to investigate electropathological substrates and triggers of VF. Results To date, 432 patients have been included in the registry (median age at event 40 years (interquartile range 28–52)), 61% male. During a median follow-up of 6 (2–12) years, 38 patients (9%) received a diagnosis other than ‘idiopathic’. Eleven iVF patients were characterised with electrocardiographic imaging. Conclusion The Dutch iVF Registry is currently the largest of its kind worldwide. In this heterogeneous population of index patients, we aim to identify common functional denominators associated with iVF. With the implementation of non-invasive electrocardiographic imaging and other diagnostic modalities (e.g. echocardiographic deformation, cardiac magnetic resonance), we advance the possibilities to reveal pro-fibrillatory substrates.

show abstract

Echocardiographic deformation imaging unmasks global and regional mechanical dysfunction in patients with idiopathic ventricular fibrillation: A multicenter case-control study

Cited by 9 publications

References 33 publications

Importance of genetic testing in unexplained cardiac arrest

Importance of genetic testing in unexplained cardiac arrest

State-of-the-Art Multimodality Imaging in Sudden Cardiac Arrest with Focus on Idiopathic Ventricular Fibrillation: A Review

The Dutch Idiopathic Ventricular Fibrillation Registry: progress report on the quest to identify the unidentifiable

Contact Info

Product

Resources

About