Coil embolization of bilateral internal mammary artery aneurysms in the setting of a heterozygous missense variant of unknown significance in COL5A1 and fibromuscular dysplasia

Abstract

Internal mammary artery aneurysms are rare but serious clinical entities. Rupture results in hemothorax and can be life threatening. Most reported cases are pseudoaneurysms secondary to iatrogenic or traumatic causes. Noniatrogenic, nontraumatic, true internal mammary artery aneurysms have most commonly been associated with vasculitides or connective tissue disorders; rare cases have been deemed idiopathic. We describe a rare case of bilateral internal mammary artery aneurysms—successfully treated with coil embolization—in the setting of heterozygosity for a missense variant of unknown significance in the COL5A1 gene and multifocal fibrodysplastic changes on angiography.

Case Report: Spontaneous Postpartum Quadruple Cervicocephalic Arterial Dissection With a Heterozygous COL5A1 Variant of Unknown Significance

“…Still, it potentially affects the C-terminal propeptide and the protein processing. There are reports of other potentially pathogenic variants in the C-terminal propeptide region of the type V collagen ( 14 , 15 ). This variant has a very low frequency among non-Finnish Europeans (gnomAD, 0.007%) and the overall population (gnomAD, 0.003%) without reported cases of COL5A1 -related disease ( 16 ).…”

Left Main Coronary Artery and Bilateral Mammary Artery Aneurysms in a Patient With Extensive Aortopathy

“…Internal mammary artery aneurysms generally occur in the setting of trauma or are iatrogenic. 1 Bilateral IMA are extremely rare 2 - 4 and usually occur in the setting of genetically mediated aortopathies. These aortopathies often present in younger patients and can have a familial component, with up to 20% of patients with aortopathy having a family history of thoracic aortic dilation.…”

“…There are currently no established guidelines for managing IMA aneurysms; however, previous cases have used surgical resection or, more frequently, coil embolization as treatment options. 2 - 4 No guidelines or recommendations on using aneurysmal IMA grafts in coronary artery bypass graft exist.…”

Spontaneous rupture of breast pseudoaneurysm: a rare case

“…The leading cause of death in up to 70%–80% of patients with the vascular type of EDS is arterial rupture (mainly thoracic or abdominal) 1 4. Large calibre arteries (proximal branches of the aortic arch, descending thoracic aorta, and abdominal aorta and distal branches) are frequently involved 1…”