Multiple spontaneous coronary artery ruptures and cardiac tamponade in vascular Ehlers-Danlos syndrome

Abstract

We report a case of a 45-year-old woman with Ehlers-Danlos syndrome (EDS) type IV, the vascular type, who presented with multiple coronary artery ruptures causing cardiac tamponade. She had sudden onset of chest pain soon after transarterial embolization for right carotid-cavernous fistula. Transthoracic echocardiography confirmed cardiac tamponade and hypokinetic inferolateral wall. Enhanced CT and transesophageal echocardiography ruled out aortic dissection. Coronary angiography showed contrast extravasation from multiple sites of the right coronary artery and left circumflex coronary artery. We suspected EDS type IV, and a skin biopsy for DNA and RNA analysis was done after taking written informed consent. Polymerase chain reaction (PCR) and sequencing of the PCR product showed a heterozygous missense mutation of codon 85 in the COL3A1 gene, which converted glycine to aspartic acid, and thus a diagnosis of EDS type IV was established. To our best knowledge, this is the first case of EDS type IV causing multiple coronary artery ruptures.

A case report of unusual clinical features of a spontaneous coronary artery rupture: pathologic findings in the rupture site

“…Spontaneous coronary artery rupture is associated with known underlying diseased (e.g. aneurysm, Ehlers–Danlos syndrome, and Behcet’s disease), 1 , 4 , 5 but some reported SCAR cases have no underlying heart diseases 2 , 6 . In the present case, we first reported the details of the pathophysiologic findings of the rupture site, which showed no evident underlying coronary disease.…”

Myocardial Infarction in Young Adults: Diagnosis Begins Through Inspection

“…Similar to our patient, the diagnosis in previously reported cases was often suspected based on physical examination findings, family history, clinical presentation, and arterial complications and later confirmed by genetic testing. [6][7][8][9][10][11][12][13][14][15][16][17] Our patient received dual antiplatelet therapy, beta blockers, an angiotensin-converting enzyme inhibitor (ACEI), and high-dose statin treatment after discharge. There is a general consensus on using beta blockers in SCAD patients as they decrease arterial shear stress.…”

Ehlers-Danlos syndrome: From bedside to bench

“…Approximately two-thirds of published cases of genetically diagnosed vEDS are caused by point mutations in glycine residues (Ohyama et al, 2010). A single Gly substitution destabilizes the triple helix through a local disruption in hydrogen bonding and produces a discontinuity in the register of the helix (Brodsky and Persikov,2005).In COL1A1, COL2A1 and COL7A1, Gly substitutions have been reported to cause more severe disorders than any other single-aminoacid mutations (Marini et al, 2007;Xu et al, 2020;Gupta et al, 2023).According to a review article, all gastrointestinal events originate from glycine substitutions, splicing variants, and in-frame indels, whereas variants that cause haploinsufficiency and non-glycine missense Frontiers in Genetics frontiersin.org variants are not associated with gastrointestinal events .…”