Cargando…
Retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome can be associated with coronary and major systemic arterial disease
PURPOSE: To report novel life-threatening coronary and systemic arterial disease associated with Retinal Arterial Macroaneurysms with Supravalvular Pulmonic Stenosis (RAMSVPS) syndrome, previously known as Familial Retinal Arterial Macroaneurysms (FRAM). OBSERVATIONS: A 29-years old woman with longs...
Autores principales: | , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9027035/ https://www.ncbi.nlm.nih.gov/pubmed/35464689 http://dx.doi.org/10.1016/j.ajoc.2022.101514 |
_version_ | 1784691260017082368 |
---|---|
author | Jomar, Deema E. Albakri, Amani S. Safieh, Leen Abu Nowilaty, Sawsan R. |
author_facet | Jomar, Deema E. Albakri, Amani S. Safieh, Leen Abu Nowilaty, Sawsan R. |
author_sort | Jomar, Deema E. |
collection | PubMed |
description | PURPOSE: To report novel life-threatening coronary and systemic arterial disease associated with Retinal Arterial Macroaneurysms with Supravalvular Pulmonic Stenosis (RAMSVPS) syndrome, previously known as Familial Retinal Arterial Macroaneurysms (FRAM). OBSERVATIONS: A 29-years old woman with longstanding poor vision in her right eye presented with acute myocardial infarction and subclavian bruit. Her polyangiogram showed peculiar ostial coronary aneurysms, left anterior descending coronary artery stenosis, occlusion of the left subclavian artery, stenosis of both renal arteries, irregularities in the mesenteric artery and tapering of the aorta. Takayasu arteritis was initially presumed, however fundus examination revealed beading and macroaneurysms along major retinal arteries, intraretinal exudation and hemorrhages, retinal arterial sheathing and stenosis, Coats’-like features and submacular gliosis in the right eye, vitreous hemorrhage in the left eye, and persistent hyaloid artery remnant in both eyes. These features evoked RAMSVPS syndrome. Genetic testing identified the same homozygous IGFBP7 c.830-1G > A mutation reported with RAMSVPS syndrome, rectifying the systemic diagnosis. CONCLUSION AND IMPORTANCE: RAMSVPS syndrome can be associated with more life-threatening coronary and widespread major arterial disease than previously recognized. It is crucial for ophthalmologists to recognize RAMSVPS syndrome and refer patients for a thorough cardiovascular evaluation. Likewise, a careful retinal examination and the possibility of an IGFBP7 mutation should be considered in the setting of systemic arterial or cardiac disease. |
format | Online Article Text |
id | pubmed-9027035 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-90270352022-04-23 Retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome can be associated with coronary and major systemic arterial disease Jomar, Deema E. Albakri, Amani S. Safieh, Leen Abu Nowilaty, Sawsan R. Am J Ophthalmol Case Rep Case Report PURPOSE: To report novel life-threatening coronary and systemic arterial disease associated with Retinal Arterial Macroaneurysms with Supravalvular Pulmonic Stenosis (RAMSVPS) syndrome, previously known as Familial Retinal Arterial Macroaneurysms (FRAM). OBSERVATIONS: A 29-years old woman with longstanding poor vision in her right eye presented with acute myocardial infarction and subclavian bruit. Her polyangiogram showed peculiar ostial coronary aneurysms, left anterior descending coronary artery stenosis, occlusion of the left subclavian artery, stenosis of both renal arteries, irregularities in the mesenteric artery and tapering of the aorta. Takayasu arteritis was initially presumed, however fundus examination revealed beading and macroaneurysms along major retinal arteries, intraretinal exudation and hemorrhages, retinal arterial sheathing and stenosis, Coats’-like features and submacular gliosis in the right eye, vitreous hemorrhage in the left eye, and persistent hyaloid artery remnant in both eyes. These features evoked RAMSVPS syndrome. Genetic testing identified the same homozygous IGFBP7 c.830-1G > A mutation reported with RAMSVPS syndrome, rectifying the systemic diagnosis. CONCLUSION AND IMPORTANCE: RAMSVPS syndrome can be associated with more life-threatening coronary and widespread major arterial disease than previously recognized. It is crucial for ophthalmologists to recognize RAMSVPS syndrome and refer patients for a thorough cardiovascular evaluation. Likewise, a careful retinal examination and the possibility of an IGFBP7 mutation should be considered in the setting of systemic arterial or cardiac disease. Elsevier 2022-04-12 /pmc/articles/PMC9027035/ /pubmed/35464689 http://dx.doi.org/10.1016/j.ajoc.2022.101514 Text en © 2022 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Case Report Jomar, Deema E. Albakri, Amani S. Safieh, Leen Abu Nowilaty, Sawsan R. Retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome can be associated with coronary and major systemic arterial disease |
title | Retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome can be associated with coronary and major systemic arterial disease |
title_full | Retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome can be associated with coronary and major systemic arterial disease |
title_fullStr | Retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome can be associated with coronary and major systemic arterial disease |
title_full_unstemmed | Retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome can be associated with coronary and major systemic arterial disease |
title_short | Retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome can be associated with coronary and major systemic arterial disease |
title_sort | retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome can be associated with coronary and major systemic arterial disease |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9027035/ https://www.ncbi.nlm.nih.gov/pubmed/35464689 http://dx.doi.org/10.1016/j.ajoc.2022.101514 |
work_keys_str_mv | AT jomardeemae retinalarterialmacroaneurysmswithsupravalvularpulmonicstenosissyndromecanbeassociatedwithcoronaryandmajorsystemicarterialdisease AT albakriamanis retinalarterialmacroaneurysmswithsupravalvularpulmonicstenosissyndromecanbeassociatedwithcoronaryandmajorsystemicarterialdisease AT safiehleenabu retinalarterialmacroaneurysmswithsupravalvularpulmonicstenosissyndromecanbeassociatedwithcoronaryandmajorsystemicarterialdisease AT nowilatysawsanr retinalarterialmacroaneurysmswithsupravalvularpulmonicstenosissyndromecanbeassociatedwithcoronaryandmajorsystemicarterialdisease |