Evidence map›Paper›PMID 39764632›Full record

ArticleCirculation. Cardiovascular imaging2025

Inheritance of Imaging Parameters of Arrhythmic Risk in Mitral Valve Prolapse: A Pedigree Study.

Luca Cristin, Shalini Dixit, Dwight Bibby, Janet J Tang, Qizhi Fang, Lionel Tastet, Amy H Rich, Rohit Jhawar, Yasufumi Nagata, Satoshi Higuchi and 5 more

Abstract read
In one paragraph

Article in Circulation. Cardiovascular imaging, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed.

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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

15 authors.

Luca Cristin *Division of Cardiology, Department of Medicine, University of California, San Francisco (L.C., S.D., D.B., J.J.T., Q.F., L.T., A.H.R., R.J., S.H., H.H.H., Z.H.T., N.B.S., F.N.D.).ORCID 0009-0003-2932-8659
Shalini Dixit *Division of Cardiology, Department of Medicine, University of California, San Francisco (L.C., S.D., D.B., J.J.T., Q.F., L.T., A.H.R., R.J., S.H., H.H.H., Z.H.T., N.B.S., F.N.D.).
Dwight BibbyDivision of Cardiology, Department of Medicine, University of California, San Francisco (L.C., S.D., D.B., J.J.T., Q.F., L.T., A.H.R., R.J., S.H., H.H.H., Z.H.T., N.B.S., F.N.D.).
Janet J TangDivision of Cardiology, Department of Medicine, University of California, San Francisco (L.C., S.D., D.B., J.J.T., Q.F., L.T., A.H.R., R.J., S.H., H.H.H., Z.H.T., N.B.S., F.N.D.).ORCID 0000-0001-8062-2536
Qizhi FangDivision of Cardiology, Department of Medicine, University of California, San Francisco (L.C., S.D., D.B., J.J.T., Q.F., L.T., A.H.R., R.J., S.H., H.H.H., Z.H.T., N.B.S., F.N.D.).
Lionel TastetDivision of Cardiology, Department of Medicine, University of California, San Francisco (L.C., S.D., D.B., J.J.T., Q.F., L.T., A.H.R., R.J., S.H., H.H.H., Z.H.T., N.B.S., F.N.D.).ORCID 0000-0002-6374-5398
Amy H RichDivision of Cardiology, Department of Medicine, University of California, San Francisco (L.C., S.D., D.B., J.J.T., Q.F., L.T., A.H.R., R.J., S.H., H.H.H., Z.H.T., N.B.S., F.N.D.).
Rohit JhawarDivision of Cardiology, Department of Medicine, University of California, San Francisco (L.C., S.D., D.B., J.J.T., Q.F., L.T., A.H.R., R.J., S.H., H.H.H., Z.H.T., N.B.S., F.N.D.).ORCID 0009-0000-6021-6418
Yasufumi NagataCardiac Ultrasound Laboratory, Cardiology Division, Department of Medicine, Massachusetts General Hospital, Boston (Y.N., R.A.L.).ORCID 0000-0001-5481-7524
Satoshi HiguchiDivision of Cardiology, Department of Medicine, University of California, San Francisco (L.C., S.D., D.B., J.J.T., Q.F., L.T., A.H.R., R.J., S.H., H.H.H., Z.H.T., N.B.S., F.N.D.).ORCID 0000-0003-1644-3140
Robert A LevineCardiac Ultrasound Laboratory, Cardiology Division, Department of Medicine, Massachusetts General Hospital, Boston (Y.N., R.A.L.).ORCID 0000-0002-9484-8218
Henry H HsiaDivision of Cardiology, Department of Medicine, University of California, San Francisco (L.C., S.D., D.B., J.J.T., Q.F., L.T., A.H.R., R.J., S.H., H.H.H., Z.H.T., N.B.S., F.N.D.).ORCID 0000-0001-8187-9755
Zian H TsengDivision of Cardiology, Department of Medicine, University of California, San Francisco (L.C., S.D., D.B., J.J.T., Q.F., L.T., A.H.R., R.J., S.H., H.H.H., Z.H.T., N.B.S., F.N.D.).ORCID 0000-0001-5996-4099
Nelson B SchillerDivision of Cardiology, Department of Medicine, University of California, San Francisco (L.C., S.D., D.B., J.J.T., Q.F., L.T., A.H.R., R.J., S.H., H.H.H., Z.H.T., N.B.S., F.N.D.).ORCID 0000-0001-5489-4378
Francesca N DellingDivision of Cardiology, Department of Medicine, University of California, San Francisco (L.C., S.D., D.B., J.J.T., Q.F., L.T., A.H.R., R.J., S.H., H.H.H., Z.H.T., N.B.S., F.N.D.).ORCID 0000-0002-5224-4096

Funding

Mechanism of Myocardial Fibrosis Induced by Mitral Valve ProlapseR01HL173930 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI JUDY W HUNG, Serguei MELNITCHOUK · 2024 to 2026
$5.4M
Prospective sudden cardiac death risk stratification using CMR and echocardiography machine learning in mitral valve prolapseR01HL153447 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI DELLING, FRANCESCA N · 2020 to 2024
$4.7M
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
Sudden cardiac death in mitral valve prolapse: a genotype-phenotype pedigree studyR03HL145238 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI DELLING, FRANCESCA N · 2018 to 2019
$160k
NHLBI NIH HHS R01 HL102090NHLBI NIH HHS R01 HL147035NHLBI NIH HHS R01 HL153447NHLBI NIH HHS R01 HL173930NHLBI NIH HHS R03 HL145238
6 · The paper itself

Abstract

backgroundA subset of patients with mitral valve prolapse (MVP), a highly heritable condition, experience sudden cardiac arrest (SCA) or sudden cardiac death (SCD). However, the inheritance of phenotypic imaging features of arrhythmic MVP remains unknown.

methodsWe recruited 23 MVP probands, including 9 with SCA/SCD and 14 with frequent/complex ventricular ectopy. Participants underwent interviews, 2-dimensional and speckle-tracking echocardiography, and 48-hour Holter/event monitoring. Each individual was categorized as having a normal mitral valve, MVP, or borderline MVP. We assessed mitral annular disjunction, curling, global longitudinal strain, segmental peak longitudinal strain, electrical/mechanical dispersion, and the postsystolic shortening index in family members and unrelated healthy controls.

resultsWe enrolled 23 pedigrees (14 extended pedigrees, 4 trios, and 5 duos) with a total of 121 participants (mean age 45 years, 50% women). Multigenerational SCA/SCD occurred in 2 of 14 extended pedigrees (14%) with an SCA/SCD proband. Mitral annular disjunction was present in 2 generations among 3 families (13%) and absent in 3 of 9 (33%) SCA/SCD cases. Compared with nonarrhythmic cases, arrhythmic MVP cases had more bileaflet involvement, mitral annular disjunction, curling, and abnormal valvular-myocardial mechanics, as expressed by a higher mid-inferior/inferolateral postsystolic shortening index (

conclusionsIn the context of familial MVP, SCA/SCD is rarely observed in multiple generations and is not consistently linked to mitral annular disjunction. Instead, SCA may result from combination of abnormal valvular-myocardial mechanics and a substrate of increased mechanical/electrical dispersion. Family members with normal mitral valves also exhibit mildly abnormal global strain parameters, suggesting an underlying myopathy independent of MVP expression. Future studies are needed to determine whether SCA/SCD in MVP requires the concomitant presence of abnormal mechanics and a primary genetic myopathy.

Indexed as

Arrhythmias, CardiacDeath, Sudden, CardiacEchocardiographyMitral ValveMitral Valve ProlapseVentricular Premature ComplexesAdultAgedElectrocardiography, AmbulatoryFemaleGenetic Predisposition to DiseaseHeredityHumansMaleMiddle AgedPedigreeechocardiographyfamilyheart arrestmitral valve prolapsepedigree

Identifiers

PMID39764632
PMCPMC11753933

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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.