The term 'Giant' coronary aneurysm is usually defined as any coronary aneurysm more than 8 mm in maximum diameter. The form of familial retinal arterial macroaneurysms (FRAMs) is a rare autosomal recessive disease that is described by arterial aneurysm formation in the retina. Here, we report an association of coronary artery aneurysms with FRAM in a young male who presented with the acute coronary syndrome. A 31-year-old male smoker presented to the emergency department with atypical chest pain for 5 days. Blood investigations showed raised troponin enzymes. Review of his past medical history revealed decreased vision in the left eye, starting at the age of 10 years which progressed to blindness. He was diagnosed to have IGFBP7 mutation which causes eye manifestations in the form of FRAM. Fundoscopy showed bleeding retinal artery macroaneurysms in the right retina and sub-retinal gliosis suggesting laser treatment for the prior retinal arterial aneurysm. Coronary angiogram revealed a large aneurysm in the proximal segment of the left anterior descending (LAD) artery. Cardiac computed tomography scan with contrast was done which showed a 2.28 × 1.64 cm coronary aneurysm at the proximal segment of the LAD artery with peripheral calcification with a narrow neck of about 0.6 cm. After the heart team discussion, he underwent surgical ligation of the LAD and coronary aneurysm with implantation of the saphenous venous graft to distal LAD. Coronary artery aneurysms can be a part of multisystem diseases like FRAM. The management should be individualized based on symptoms at presentation, size of coronary aneurysms, and local expertise.

Familial retinal arterial macroaneurysm (FRAM) is a rare genetic disorder caused by a gene mutation in the insulin-like growth factor binding protein 7 (IGFBP7). We report a 30-year-old male with FRAM and IGFBP7 gene mutation who presented with an acute coronary syndrome (ACS). Invasive coronary angiography revealed a large aneurysm at the proximal part of the left anterior descending (LAD) artery. Few cases with systemic vascular involvement in patients with FRAM have been described before; however, our case represents the first documentation of a LAD artery aneurysm in a patient with FRAM and IGFBP7 gene mutation.

Retinal arteriolar macroaneurysms with supravalvular pulmonic stenosis (RAMSVPS) is a rare syndrome that to date has only been reported in Saudi Arabian families. All tested patients have been homozygous for a single IGFBP7 splice variant (NM_001553.2:c.830-1G>A). We report our experience with RAMSVPS in the United Arab Emirates. Retrospective case series. Five affected individuals (two males and three females) from two unrelated Emirati families were known to our institution (age of first signs 6 months to 10 years of age, with one asymptomatic 6-year-old boy identified by sibling screening examination). Initial ophthalmic diagnoses had been Coats disease or traumatic retinal bleeding. Characteristic retinal arteriolar trunk beading and macroaneurysms led to the actual diagnosis of RAMSVPS. One child with esotropia at 6 months of age seemed to have unilateral Coats disease until retinal signs became apparent in the contralateral eye at 4 years old. One family consented to genetic testing, and both affected siblings were homozygous for the Saudi IGFBP7 splice variant (c.830-1G>A). The three children who underwent echocardiography were all confirmed to have cardiac valvular abnormalities (two supravalvular pulmonic stenosis and one tricuspid stenosis). The distinct ophthalmic phenotype of RAMSVPS is important to recognize because of systemic implications. Retinal findings can be misinterpreted as sequelae of trauma or Coats disease and can seem unilateral in very young children until changes in the contralateral eye become apparent years later. The homozygous IGFBP7 splice variant associated with the disease likely represents an ancestral founder effect for the Arabian Peninsula.

Retinal arterial macroaneurysms with supravalvular pulmonic stenosis (RAMSVPS), also known as Familial Retinal Arterial Macroaneurysms (FRAM) syndrome, is a very rare multisystem disorder. Here, we present a case series comprising ophthalmologic and systemic evaluation of patients homozygous for RAMSVPS syndrome causative IGFBP7 variant. New clinical details on 22 previously published and 8 previously unpublished patients are described. Age at first presentation ranged from 1 to 34 years. The classical feature of macroaneurysms and vascular beading involving the retinal arteries was universal. Follow up extending up to 14 years after initial diagnosis revealed recurrent episodes of bleeding and leakage from macroaneurysms in 55% and 59% of patients, respectively. The majority of patients who underwent echocardiography (18/23) showed evidence of heart involvement, most characteristically pulmonary (valvular or supravalvular) stenosis, often requiring surgical correction (12/18). Four patients died in the course of the study from complications of pulmonary stenosis, cerebral hemorrhage, and cardiac complications. Liver involvement (usually cirrhosis) was observed in eight patients. Cerebral vascular involvement was observed in one patient, and stroke was observed in two. We conclude that RAMSVPS is a recognizable syndrome characterized by a high burden of ocular and systemic morbidity, and risk of premature death. Recommendations are proposed for early detection and management of these complications.

Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (RAMSVPS), also known as familial retinal arterial macroaneurysm syndrome, is an autosomal recessive disorder associated with many life-threatening complications. The disease is characterized by progressive multiple retinal arterial macroaneurysms, retinal arterial beading, and recurrent vitreous hemorrhage. Here, we describe the first case of RAMSVPS associated with peripheral ischemia evident on ultra-widefield fluorescein angiography. A 23-year-old otherwise healthy woman presented to our ophthalmology emergency room with a 1-week history of right eye floaters and decreased vision. Dilated fundoscopic examination showed right eye vitreous and preretinal hemorrhage with bilateral active and involuted retinal arterial macroaneurysms, arterial beading, and sclerosed vessels. Ultra-widefield fluorescein angiography demonstrated multiple macroaneurysms on the optic discs and along the major retinal arteries in addition to significant peripheral retinal ischemia in both eyes. Echocardiography showed severe supravalvular pulmonic stenosis that required urgent pulmonary valvuloplasty. Indeed, peripheral retinal ischemia is an additional finding in RAMSVPS.