Gotabhaya Ranasinghe

National Hospital of Sri Lanka, Sri Lanka

Title: SCADLE, a New Medical Frontier

Abstract

Background: Spontaneous coronary artery dissection (SCAD) is an increasingly recognized, yet often unexplained, cause of acute coronary syndrome. In nearly half of the cases, causative factors remain unclear. This presentation delves into a unique case of spontaneous coronary artery dissection with leukoencephalopathy (SCADLE) linked to a novel thrombospondin Type 1 domain containing 1 (THSD1) mutation.

Case Summary: A 36-year-old woman presented with a four-hour history of ischemic chest pain and was diagnosed with anterior ST- segment elevation myocardial infarction (STEMI). Intravenous Tenecteplase was used for thrombolysis, resulting in good resolution. Coronary angiography identified Type 1 SCAD with left anterior descending artery (LAD) with TIMI 3 flow. Intramural hematoma and the LAD spiral dissection were confirmed by an intravascular ultrasound. The patient experienced prior transient ischemic attacks (TIAs) 5 and 7 years ago and had a notable family history of strokes in first-degree relatives. Magnetic resonance imaging (MRI) of the brain indicated small infarctions along with abnormalities in bilateral periventricular white matter, suggesting leucoencephalopathy. Exome gene sequencing and genetic analysis were conducted due to suspicion of a possible link between cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) and SCAD. The NOTCH3 gene mutation, which is commonly found in CADASIL, was not detected at c.67°C > G (p. Arg224Gly). Instead, the tests revealed a mutation in the thrombospondin Type 1 domain containing 1 (THSD1) gene.

Discussion: The THSD1 gene encodes proteins that function in the extracellular matrix (ECM). The THSD1 mutation is autosomal dominant and linked to rare arterial dissections, fibromuscular dysplasia, intracranial aneurysms, and subarachnoid hemorrhages. SCADLE may be caused by malfunction of ECM proteins in the cerebral and coronary arteries, causing neurological symptoms and MRI characteristics similar to CADASIL and SCAD.

Biography

Dr. Gotabhaya Ranasinghe, a leading general and interventional cardiologist in Sri Lanka, serves as Senior Consultant Cardiologist at the National Hospital of Sri Lanka and the Honorary Consultant Cardiologist to the Sri Lanka Navy, holding the rank of Surgeon Rear Admiral. He has earned Fellowships from the Royal College of Physicians London, Ceylon College of Physicians, American College of Cardiology and Asia Pacific Society of Interventional Cardiology. He was a former President of the Sri Lanka College of Cardiology and is the co-founder of the ‘Sri Lanka STEMI Forum’. He is the principal investigator of the National Heart Attack Care Registry in Sri Lanka. His latest contribution to cardiology is SCADLE (Spontaneous Coronary Artery Dissection with Leukoencephalopathy) Syndrome which was first ever reported and published in the European Heart Journal in 2023. He is also an avid wildlife enthusiast and enjoys traveling.

4th International Conference on Cardiology

Gotabhaya Ranasinghe

Title: SCADLE, a New Medical Frontier

Abstract

Biography

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