Evidence map›Paper›PMID 40249767›Full record

ArticleEuropace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology2025

Countywide burden, pathology, and genetics of lethal hypertrophic cardiomyopathy: from the POST SCD study.

Leila Haghighat, Andrew Connolly, Francesca Nesta Delling, Theodore Pravinchandra Abraham, Ellen Moffatt, Zian H Tseng

Abstract read
In one paragraph

Article in Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Leila HaghighatDivision of Cardiology, Department of Medicine, University of California-San Francisco, San Francisco, 500 Parnassus Avenue, Box 1354, CA 94143-1354, USA.ORCID 0000-0002-7857-0789
Andrew ConnollyDepartment of Pathology and Laboratory Medicine, University of California-San Francisco, San Francisco, CA, USA.
Francesca Nesta DellingDivision of Cardiology, Department of Medicine, University of California-San Francisco, San Francisco, 500 Parnassus Avenue, Box 1354, CA 94143-1354, USA.ORCID 0000-0002-5224-4096
Theodore Pravinchandra AbrahamDivision of Cardiology, Department of Medicine, University of California-San Francisco, San Francisco, 500 Parnassus Avenue, Box 1354, CA 94143-1354, USA.ORCID 0000-0003-3411-1334
Ellen MoffattDepartment of Pathology and Laboratory Medicine, University of California-San Francisco, San Francisco, CA, USA.
Zian H TsengDivision of Cardiology, Department of Medicine, University of California-San Francisco, San Francisco, 500 Parnassus Avenue, Box 1354, CA 94143-1354, USA.ORCID 0000-0001-5996-4099

Funding

Molecular Phenotyping for Autopsy-Defined Sudden Cardiac DeathR01HL147035 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI TSENG, ZIAN H · 2020 to 2023
$3.2M
Comprehensive autopsy characterization of sudden cardiac deathR01HL102090 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI TSENG, ZIAN H · 2010 to 2014
$2.8M
NHLBI NIH HHS R01 HL 102090NHLBI NIH HHS R01 HL102090NHLBI NIH HHS R01 HL147035
6 · The paper itself

Abstract

aimsIncidence of sudden cardiac death (SCD) is 1%/year in cohorts with hypertrophic cardiomyopathy (HCM), but this estimate presumes arrhythmic cause and misses occult cases dying before diagnosis. METHODS AND

resultsPOST SCD (POstmortem Systematic InvesTigation of Sudden Cardiac Death) is a prospective cohort study using autopsy, clinical records, and toxicology to adjudicate arrhythmic or non-arrhythmic causes among presumed SCDs (pSCDs) meeting WHO criteria aged 0-90 years in San Francisco County. We included all incident cases 2/1/2011-3/1/2014 (n = 525) and approximately every third day 3/1/2014-9/1/2022 (n = 497) based on medical examiner call schedule. We identified HCM victims via three approaches: (i) pathology; (ii) echocardiogram [transthoracic echocardiogram (TTE)]; (iii) genetic criteria. Incidence calculations used county data and estimated HCM prevalence of 1:500 from studies of persons aged 23-35 years old. Of 1022 pSCDs [558 (54.6%) arrhythmic deaths] during the study period, 13 had HCM: 10 met pathology criteria; 2 via review of 203 TTEs (missed on initial report); 1 via genetic testing. Of these, 11 were arrhythmic deaths, yielding 1.3% burden of sudden death (pSCD) and 2% of arrhythmic death. Only 2 of 13 (15%) pSCDs with HCM had pre-mortem diagnosis. Incidence for persons with HCM 18-35 years old was 0.2% pSCDs/year and 0.1% SADs/year. pSCDs with HCM had a higher proportion of arrhythmic cause [11/13 (85%) vs. 547/1009 (54%), P = 0.03] than those without. pSCD burden due to HCM decreased with age (P = 0.003), highest among victims <35 years old, for whom HCM accounted for 7.1% of pSCD and 9.4% of arrhythmic death. Genetic testing of 317 consented pSCDs yielded pathogenic or likely pathogenic variants in 40% (2/5) and identified one additional case without clinical phenotype.

conclusionIn this 11-year countywide post-mortem study, HCM meeting pathologic, clinical, or genetic criteria was associated with autopsy-confirmed arrhythmic cause of sudden death, accounting for 2% of SADs up to age 90, highest in cases <35 years old. Since 85% of cases were undiagnosed before pSCD, the true burden of HCM-related sudden death may be substantially underestimated.

Indexed as

Cardiomyopathy, HypertrophicDeath, Sudden, CardiacAdolescentAdultAgedAged, 80 and overAutopsyCause of DeathChildChild, PreschoolEchocardiographyFemaleGenetic Predisposition to DiseaseGenetic TestingHumansIncidencearrhythmic deathcardiac geneticshypertrophic cardiomyopathySudden death

Identifiers

PMID40249767
PMCPMC12107038

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.