Thus, while reports of cardiovascular events with this COL1A1 variant are uncommon, some patients with the variant have been reported to have cardiac and/or vascular complications such as mitral regurgitation, aortic regurgitation, vertebral artery tortuosity, iliac artery aneurysm and dissection and coeliac trunk aneurysm and dissection, usually in adult life [12]. Here, COL1A1 is linked to aortic valve insufficiency.