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Sudden Cardiac Death Substrate Imaged by Magnetic Resonance Imaging: From Investigational Tool to Clinical Applications.

ABSTRACT: Sudden cardiac death (SCD) is a devastating event afflicting 350?000 Americans annually despite the availability of life-saving preventive therapy, the implantable cardioverter defibrillator. SCD prevention strategies are hampered by over-reliance on global left ventricular ejection fraction <35% as the most important criterion to determine implantable cardioverter defibrillator candidacy. Annually in the United States alone, this results in ?130?000 implantable cardioverter defibrillator placements at a cost of >$3 billion but only a 5% incidence per year of appropriate firings. This approach further fails to identify individuals who experience the majority, as many as 80%, of SCD events, which occur in the setting of more preserved left ventricular ejection fraction. Better risk stratification is needed to improve care and should be guided by direct pathophysiologic markers of arrhythmic substrate, such as specific left ventricular structural abnormalities. There is an increasing body of literature to support the prognostic value of cardiac magnetic resonance imaging with late gadolinium enhancement in phenotyping the left ventricular to identify those at highest risk for SCD. Cardiac magnetic resonance has unparalleled tissue characterization ability and provides exquisite detail about myocardial structure and composition, abnormalities of which form the direct, pathophysiologic substrate for SCD. Here, we review the evolution and the current state of cardiac magnetic resonance for imaging the arrhythmic substrate, both as a research tool and for clinical applications.

SUBMITTER: Wu KC

PROVIDER: S-EPMC5507445 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature

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Sudden Cardiac Death Substrate Imaged by Magnetic Resonance Imaging: From Investigational Tool to Clinical Applications.

Wu Katherine C KC

Circulation. Cardiovascular imaging 20170701 7

Sudden cardiac death (SCD) is a devastating event afflicting 350 000 Americans annually despite the availability of life-saving preventive therapy, the implantable cardioverter defibrillator. SCD prevention strategies are hampered by over-reliance on global left ventricular ejection fraction <35% as the most important criterion to determine implantable cardioverter defibrillator candidacy. Annually in the United States alone, this results in ≈130 000 implantable cardioverter defibrillator placem ...[more]

PMID: 28637807

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Project description:BackgroundConditions associated with sudden cardiac arrest/death (SCA/D) in youth often have a genetic etiology. While SCA/D is uncommon, a pro-active family screening approach may identify these inherited structural and electrical abnormalities prior to symptomatic events and allow appropriate surveillance and treatment. This study investigated the diagnostic utility of exome sequencing (ES) by evaluating the capture and coverage of genes related to SCA/D.MethodsSamples from 102 individuals (13 with known molecular etiologies for SCA/D, 30 individuals without known molecular etiologies for SCA/D and 59 with other conditions) were analyzed following exome capture and sequencing at an average read depth of 100X. Reads were mapped to human genome GRCh37 using Novoalign, and post-processing and analysis was done using Picard and GATK. A total of 103 genes (2,190 exons) related to SCA/D were used as a primary filter. An additional 100 random variants within the targeted genes associated with SCA/D were also selected and evaluated for depth of sequencing and coverage. Although the primary objective was to evaluate the adequacy of depth of sequencing and coverage of targeted SCA/D genes and not for primary diagnosis, all patients who had SCA/D (known or unknown molecular etiologies) were evaluated with the project's variant analysis pipeline to determine if the molecular etiologies could be successfully identified.ResultsThe majority of exons (97.6 %) were captured and fully covered on average at minimum of 20x sequencing depth. The proportion of unique genomic positions reported within poorly covered exons remained small (4 %). Exonic regions with less coverage reflect the need to enrich these areas to improve coverage. Despite limitations in coverage, we identified 100 % of cases with a prior known molecular etiology for SCA/D, and analysis of an additional 30 individuals with SCA/D but no known molecular etiology revealed a diagnostic answer in 5/30 (17 %). We also demonstrated 95 % of 100 randomly selected reported variants within our targeted genes would have been picked up on ES based on our coverage analysis.ConclusionsES is a helpful clinical diagnostic tool for SCA/D given its potential to successfully identify a molecular diagnosis, but clinicians should be aware of limitations of available platforms from technical and diagnostic perspectives.

Dataset Information

Sudden Cardiac Death Substrate Imaged by Magnetic Resonance Imaging: From Investigational Tool to Clinical Applications.

Publications

Sudden Cardiac Death Substrate Imaged by Magnetic Resonance Imaging: From Investigational Tool to Clinical Applications.

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