Evidence map›Paper›PMID 33125268›Full record

ArticleCirculation. Genomic and precision medicine2020

Spontaneous Coronary Artery Dissection: Insights on Rare Genetic Variation From Genome Sequencing.

Keren J Carss, Anna A Baranowska, Javier Armisen, Tom R Webb, Stephen E Hamby, Diluka Premawardhana, Abtehale Al-Hussaini, Alice Wood, Quanli Wang, Sri V V Deevi and 17 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Circulation. Genomic and precision medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
42citing papers in PubMed, 3 pooled it
6.6field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

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

42 citing papers in PubMed, 3 syntheses or guidelines pooled it, 68 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Article
  5. Article
  6. Article
  7. Cardiovascular complications of pregnancy.The Journal of clinical investigation · 2026
    Review
  8. Review
  9. Article
  10. Review
  11. Article
  12. Article
  13. Review
  14. Article
  15. Genetic Insights Into Coronary Microvascular Disease.Microcirculation (New York, N.Y. : 1994) · 2025
    Review
  16. Review
  17. Article
  18. Review
  19. Article
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

27 authors at 5 institutions in 3 countries.

Keren J CarssCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca (K.J.C., J.A., Q.W., S.V.V.D., D.V., S.H.L., S.P., C.H.).
Anna A BaranowskaDepartment of Cardiovascular Sciences and NIHR Leicester Biomedical Research Centre, University of Leicester, United Kingdom (A.A.B., T.R.W., S.E.H., D.P., A.A.-H., A.W., D.K., N.J.S., D.A.).
Javier ArmisenCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca (K.J.C., J.A., Q.W., S.V.V.D., D.V., S.H.L., S.P., C.H.).
Tom R WebbDepartment of Cardiovascular Sciences and NIHR Leicester Biomedical Research Centre, University of Leicester, United Kingdom (A.A.B., T.R.W., S.E.H., D.P., A.A.-H., A.W., D.K., N.J.S., D.A.).
Stephen E HambyDepartment of Cardiovascular Sciences and NIHR Leicester Biomedical Research Centre, University of Leicester, United Kingdom (A.A.B., T.R.W., S.E.H., D.P., A.A.-H., A.W., D.K., N.J.S., D.A.).
Diluka PremawardhanaDepartment of Cardiovascular Sciences and NIHR Leicester Biomedical Research Centre, University of Leicester, United Kingdom (A.A.B., T.R.W., S.E.H., D.P., A.A.-H., A.W., D.K., N.J.S., D.A.).
Abtehale Al-HussainiDepartment of Cardiovascular Sciences and NIHR Leicester Biomedical Research Centre, University of Leicester, United Kingdom (A.A.B., T.R.W., S.E.H., D.P., A.A.-H., A.W., D.K., N.J.S., D.A.).
Alice WoodDepartment of Cardiovascular Sciences and NIHR Leicester Biomedical Research Centre, University of Leicester, United Kingdom (A.A.B., T.R.W., S.E.H., D.P., A.A.-H., A.W., D.K., N.J.S., D.A.).
Quanli WangCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca (K.J.C., J.A., Q.W., S.V.V.D., D.V., S.H.L., S.P., C.H.).
Sri V V DeeviCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca (K.J.C., J.A., Q.W., S.V.V.D., D.V., S.H.L., S.P., C.H.).
Dimitrios VitsiosCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca (K.J.C., J.A., Q.W., S.V.V.D., D.V., S.H.L., S.P., C.H.).
Samuel H LewisCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca (K.J.C., J.A., Q.W., S.V.V.D., D.V., S.H.L., S.P., C.H.).
Deevia KotechaDepartment of Cardiovascular Sciences and NIHR Leicester Biomedical Research Centre, University of Leicester, United Kingdom (A.A.B., T.R.W., S.E.H., D.P., A.A.-H., A.W., D.K., N.J.S., D.A.).
Nabila Bouatia-NajiUniversité de Paris, Inserm UMR 970 - Paris, Centre de Recherche Cardiovasculaire, France (N.B.-N).
Stephanie HesselsonVictor Chang Cardiac Research Institute, Darlinghurst (S.H., S.E.I., I.T., D.W.M., S.L.D., D.F., R.M.G., E.G.).
Siiri E IismaaVictor Chang Cardiac Research Institute, Darlinghurst (S.H., S.E.I., I.T., D.W.M., S.L.D., D.F., R.M.G., E.G.).
Ingrid TarrVictor Chang Cardiac Research Institute, Darlinghurst (S.H., S.E.I., I.T., D.W.M., S.L.D., D.F., R.M.G., E.G.).
Lucy McGrath-CadellSt Vincent's Clinical School, University of NSW Sydney, Kensington (S.E.I., L.M.-C., D.W.M., S.L.D., D.F., R.M.G., E.G.).
David W MullerVictor Chang Cardiac Research Institute, Darlinghurst (S.H., S.E.I., I.T., D.W.M., S.L.D., D.F., R.M.G., E.G.).
Sally L DunwoodieVictor Chang Cardiac Research Institute, Darlinghurst (S.H., S.E.I., I.T., D.W.M., S.L.D., D.F., R.M.G., E.G.).
Diane FatkinVictor Chang Cardiac Research Institute, Darlinghurst (S.H., S.E.I., I.T., D.W.M., S.L.D., D.F., R.M.G., E.G.).
Robert M GrahamVictor Chang Cardiac Research Institute, Darlinghurst (S.H., S.E.I., I.T., D.W.M., S.L.D., D.F., R.M.G., E.G.).
Eleni GiannoulatouVictor Chang Cardiac Research Institute, Darlinghurst (S.H., S.E.I., I.T., D.W.M., S.L.D., D.F., R.M.G., E.G.).
Nilesh J SamaniDepartment of Cardiovascular Sciences and NIHR Leicester Biomedical Research Centre, University of Leicester, United Kingdom (A.A.B., T.R.W., S.E.H., D.P., A.A.-H., A.W., D.K., N.J.S., D.A.).
Slavé PetrovskiCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca (K.J.C., J.A., Q.W., S.V.V.D., D.V., S.H.L., S.P., C.H.).
Carolina Haefliger *Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca (K.J.C., J.A., Q.W., S.V.V.D., D.V., S.H.L., S.P., C.H.).
David Adlam *Department of Cardiovascular Sciences and NIHR Leicester Biomedical Research Centre, University of Leicester, United Kingdom (A.A.B., T.R.W., S.E.H., D.P., A.A.-H., A.W., D.K., N.J.S., D.A.).
NIHR Leicester Biomedical Research Centre · GBAstraZeneca (Australia) · AUVictor Chang Cardiac Research Institute · AUInserm · FRSt Vincent's Clinic · AU

Funding

British Heart Foundation PG/13/96/30608British Heart Foundation SP/16/4/32697Medical Research Council MC_PC_17228Medical Research Council MC_QA137853
6 · The paper itself

Abstract

backgroundSpontaneous coronary artery dissection (SCAD) occurs when an epicardial coronary artery is narrowed or occluded by an intramural hematoma. SCAD mainly affects women and is associated with pregnancy and systemic arteriopathies, particularly fibromuscular dysplasia. Variants in several genes, such as those causing connective tissue disorders, have been implicated; however, the genetic architecture is poorly understood. Here, we aim to better understand the diagnostic yield of rare variant genetic testing among a cohort of SCAD survivors and to identify genes or gene sets that have a significant enrichment of rare variants.

methodsWe sequenced a cohort of 384 SCAD survivors from the United Kingdom, alongside 13 722 UK Biobank controls and a validation cohort of 92 SCAD survivors. We performed a research diagnostic screen for pathogenic variants and exome-wide and gene-set rare variant collapsing analyses.

resultsThe majority of patients within both cohorts are female, 29% of the study cohort and 14% validation cohort have a remote arteriopathy. Four cases across the 2 cohorts had a diagnosed connective tissue disorder. We identified pathogenic or likely pathogenic variants in 7 genes (

conclusionsBy studying the largest sequenced cohort of SCAD survivors, we demonstrate that, based on current knowledge, only a small proportion have a pathogenic variant that could explain their disease. Our findings strengthen the overlap between SCAD and renal and connective tissue disorders, and we highlight several new genes for future validation.

Indexed as

Exome SequencingGenetic VariationGenome, HumanAdultAgedCohort StudiesCoronary Vessel AnomaliesFemaleHumansMachine LearningMaleMiddle AgedModels, GeneticUnited KingdomVascular DiseasesYoung Adultcoronary artery dissectiondissectiongeneticsspontaneous

Identifiers

PMID33125268
PMCPMC7748045
OpenAlexW3094755696

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.