Spontaneous Coronary Artery Dissection: A Rare Manifestation of Alport Syndrome

Abstract

Alport syndrome (AS) is a genetic disorder due to inheritance of genetic mutations which lead to production of abnormal type IV collagen. AS has been associated with renal, auditory, and ocular diseases due to the presence of abnormal alpha chains of type IV collagen in the glomerulus, cochlea, cornea, lens, and retina. The resulting disorder includes hereditary nephritis, corneal opacities, anterior lenticonus, fleck retinopathy, temporal retinal thinning, and sensorineural deafness. Aortic and aortic valve pathologies have been described as extrarenal manifestations of AS in multiple case reports. One case report described intramural hematoma of the coronary artery. We report the first case of true spontaneous coronary artery dissection (SCAD) with an intimal flap as a very rare manifestation of AS. The patient is a 36-year-old female with history of AS with chronic kidney disease, hypertension, and obesity who presented to the emergency room with acute onset of substernal chest pain radiating to her neck and arms. Troponin was elevated, and ECG showed transient 1 mm ST-segment elevation in the inferior leads. Subsequent coronary angiography revealed localized dissection of the left circumflex artery. Percutaneous coronary angioplasty was performed and her symptoms improved. This case illustrates that SCAD may be a manifestation of AS patients with chest pain.

Exploring the Genetic Architecture of Spontaneous Coronary Artery Dissection Using Whole-Genome Sequencing

“…The genes known to cause vEDS are included on most CTD panels and were thus on our gene lists. None of the 3 genes associated with AS— COL4A3 , COL4A4 , and COL4A5 —featured in any of our gene list sources, yet SCAD has been previously observed in 2 patients with AS 3,28 and other arteriopathies have been reported in AS patients. 20 We thus report the third known case of SCAD in an AS patient, for whom we identified a pathogenic variant in COL4A4 after screening genes associated with AS.…”

Myocardial infarction with non-obstructive coronary artery disease

“…Fibromuscular dysplasia is frequently associated with SCAD, especially when a complete screening is carried out [54][55][56] . An association also exists with collagen vascular disorders (Marfan syndrome, Ehlers-Danlos syndrome, Alport syndrome and nail-patella syndrome) 57,58 , chronic inflammatory diseases (systemic lupus erythematosus, inflammatory bowel disease and sarcoidosis) [59][60][61][62] , and periadventitial eosinophils infiltrate 63 .…”

Myocardial Infarction With Non-obstructive Coronary Arteries: An Updated Overview of Pathophysiology, Diagnosis, and Management

“…Fibromuscular dysplasia is frequently associated with SCAD [ 18 - 19 ]. Other associations of SCAD are collagen vascular disorders (Marfan syndrome, Ehlers-Danlos syndrome, and Alport syndrome) and inflammatory disorders (systemic lupus erythematosus, celiac disease, sarcoidosis, and inflammatory bowel disease) [ 19 - 21 ]. The true incidence of SCAD is controversial because many events can be missed or misdiagnosed [ 17 ].…”

“…The true incidence of SCAD is controversial because many events can be missed or misdiagnosed [ 17 ]. The incidence ranges from 0.07% to 1.1%, and it is a predominantly disease of women [ 21 - 23 ]. SCAD has been reported to account for one quarter to one-third of MIs in patients younger than 50 [ 18 , 24 ].…”