Journal article

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 VV Deevi, Dimitrios Vitsios, Samuel H Lewis, Deevia Kotecha, Nabila Bouatia-Naji, Stephanie Hesselson, Siiri E Iismaa, Ingrid Tarr, Lucy McGrath-Cadell, David W Muller, Sally L Dunwoodie Show all



BACKGROUND: Spontaneous 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. METHODS: We sequenced a cohort of 384 SCAD survivors from t..

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University of Melbourne Researchers


Awarded by National Health and Medical Research Council, Australia

Awarded by British Heart Foundation (BHF)

Awarded by European grant from the European Commission

Awarded by British Heart Foundation

Funding Acknowledgements

The sequencing was funded by AstraZeneca's Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, and grants from the Cardiac Society of Australia and New Zealand, National Health and Medical Research Council, Australia (grant number APP1161200; Drs Iismaa and Graham), St Vincent's Clinic Foundation (Dr Graham), Catholic Archdiocese of Sydney (Dr Graham), Perpetual Philanthropy (Dr Graham), NSW Health CVD Clinician-Scientist Grant (Dr Graham), and SCAD Research Inc. The UK SCAD study was supported by the British Heart Foundation (BHF) PG/13/96/30608, the National Institute for Health Research (NIHR) rare disease translational collaboration, the Leicester NIHR Biomedical Research Centre and BeatSCAD. Dr Bouatia-Naji is supported by a European grant from the European Commission (ERC-Stg-ROSALIND-716628). Dr Webb is funded by the funded by the British Heart Foundation (SP/16/4/32697).