{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T11:51:46Z","timestamp":1753876306128,"version":"3.41.2"},"reference-count":10,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T00:00:00Z","timestamp":1692662400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Spontaneous coronary artery dissection (SCAD) is increasingly diagnosed as one of the infrequent causes of acute coronary syndrome. Almost no cause was identified in half of the cases. Here, we report a rare case of spontaneous coronary artery dissection with leucoencephalopathy (SCADLE) associated with a mutation of the thrombospondin Type 1 domain containing 1 (THSD1) gene.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Case summary<\/jats:title>\n                  <jats:p>A 36-year-old lady who presented with ischaemic type chest pain for 4\u2005h duration and found to have anterior ST elevation myocardial infarction. She was thrombolysed with tenecteplase and had good resolution. Her coronary angiogram revealed a spontaneous dissection in the left anterior descending artery (LAD) with TIMI 3 flow. Intra-vascular ultrasound study confirmed the LAD spiral dissection and intramural haematoma. She has had recurrent transient ischaemic attacks 5 years and 7 years ago, and there was a significant family history of young stroke. Her magnetic resonance imaging (MRI) brain showed peri-ventricular white matter hyper-intensities and lacunar infarcts suggestive of leucoencephalopathy. An association with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) and SCAD was suspected, and exome gene sequencing followed by genetic analysis was performed. It identified a variant c.67\u00b0C &amp;gt; G (p. Arg224Gly) in the THSD1 gene with normal NOTCH gene.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Discussion<\/jats:title>\n                  <jats:p>Thrombospondin Type 1 domain containing 1 gene encodes proteins involving in the extra-cellular matrix (ECM). This THSD1 mutation is inherited as an autosomal dominant fashion and associated with arterial dissections (rare), fibromuscular dysplasia, intra-cranial aneurysm, and subarachnoid haemorrhages. Therefore, SCADLE could be a result of arteriopathy secondary to dysfunction of ECM proteins in cerebral and coronary vasculature resulting in neurological manifestations and MRI features like in CADASIL and SCAD.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ehjcr\/ytad419","type":"journal-article","created":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T18:49:36Z","timestamp":1692730176000},"source":"Crossref","is-referenced-by-count":1,"title":["Spontaneous coronary artery dissection with leucoencephalopathy associated with thrombospondin Type 1 domain containing 1 gene mutation: a case report"],"prefix":"10.1093","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9339-5368","authenticated-orcid":false,"given":"Gotabhaya","family":"Ranasinghe","sequence":"first","affiliation":[{"name":"Institute of Cardiology, National Hospital of Sri Lanka , Kynsey Road, Colombo 01000 , Sri Lanka"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rasika","family":"Sovis","sequence":"additional","affiliation":[{"name":"Institute of Cardiology, National Hospital of Sri Lanka , Kynsey Road, Colombo 01000 , Sri Lanka"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sajeev","family":"Shellvacumar","sequence":"additional","affiliation":[{"name":"Institute of Cardiology, National Hospital of Sri Lanka , Kynsey Road, Colombo 01000 , Sri Lanka"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vajira H W","family":"Dissanayake","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Colombo, Colombo, Sri Lanka"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2023,8,22]]},"reference":[{"key":"2023092917415340400_ytad419-B1","article-title":"Spontaneous coronary artery dissection in a patient with cerebral autosomal dominant arteriopathy with subcortical 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form of hereditary arteriopathy causing brain infarcts and dementia","volume":"12","author":"Kalimo","year":"2002","journal-title":"Brain Pathol"},{"key":"2023092917415340400_ytad419-B5","doi-asserted-by":"crossref","first-page":"1","DOI":"10.17305\/bjbms.2015.247","article-title":"Imaging characteristics of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)","volume":"15","author":"Stojanov","year":"2015","journal-title":"Bosn J Basic Med Sci"},{"key":"2023092917415340400_ytad419-B6","first-page":"167513","article-title":"A report of accelerated coronary artery disease associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy","volume":"2015","author":"Rubin","year":"2015","journal-title":"Case Rep Cardiol"},{"key":"2023092917415340400_ytad419-B7","doi-asserted-by":"crossref","first-page":"e523","DOI":"10.1161\/CIR.0000000000000564","article-title":"Spontaneous coronary artery 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