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Retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome can be associated with coronary and major systemic arterial disease.

التفاصيل البيبلوغرافية
العنوان: Retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome can be associated with coronary and major systemic arterial disease.
المؤلفون: Jomar DE; Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia., Albakri AS; Pediatric Ophthalmology Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia., Safieh LA; Genetic Laboratory, Research Department, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.; Genomics Research Department, King Fahad Medical City, Riyadh, Saudi Arabia., Nowilaty SR; Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
المصدر: American journal of ophthalmology case reports [Am J Ophthalmol Case Rep] 2022 Apr 12; Vol. 26, pp. 101514. Date of Electronic Publication: 2022 Apr 12 (Print Publication: 2022).
نوع المنشور: Case Reports
اللغة: English
بيانات الدورية: Publisher: Elsevier, Inc Country of Publication: United States NLM ID: 101679941 Publication Model: eCollection Cited Medium: Internet ISSN: 2451-9936 (Electronic) Linking ISSN: 24519936 NLM ISO Abbreviation: Am J Ophthalmol Case Rep Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: [Atlanta] : Elsevier, Inc. [2016]-
مستخلص: 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.
Competing Interests: No conflict of interest exists.
(© 2022 The Authors.)
References: Front Cardiovasc Med. 2017 May 05;4:24. (PMID: 28529940)
Circ Res. 2009 Jul 17;105(2):201-8. (PMID: 19542015)
Clin Genet. 2020 Mar;97(3):447-456. (PMID: 31730227)
Cardiol Rev. 2008 Nov-Dec;16(6):301-4. (PMID: 18923233)
Ophthalmic Genet. 2022 Feb;43(1):58-63. (PMID: 34519236)
Fluids Barriers CNS. 2020 Apr 1;17(1):27. (PMID: 32238174)
J AAPOS. 2014 Dec;18(6):604-5. (PMID: 25448151)
Am J Hum Genet. 2011 Aug 12;89(2):313-9. (PMID: 21835307)
Ophthalmology. 1995 Jul;102(7):1089-97. (PMID: 9121757)
BMC Ophthalmol. 2019 Jan 15;19(1):18. (PMID: 30646868)
Retina. 2011 Jun;31(6):1170-8. (PMID: 21317836)
Cardiovasc Pathol. 1994 Jul-Sep;3(3):205-16. (PMID: 25990998)
Am J Ophthalmol. 2001 May;131(5):572-83. (PMID: 11336931)
Am J Ophthalmol Case Rep. 2018 Apr 17;11:153-157. (PMID: 30094394)
Retina. 2002 Oct;22(5):607-15. (PMID: 12441727)
Radiology. 2014 Jan;270(1):74-81. (PMID: 24009351)
Am J Ophthalmol. 2013 May;155(5):898-904. (PMID: 23385203)
Eur J Pharmacol. 2009 May 21;610(1-3):61-7. (PMID: 19374835)
Eur Heart J Case Rep. 2022 Feb 09;6(2):ytac057. (PMID: 35299703)
Arthritis Rheum. 1990 Aug;33(8):1129-34. (PMID: 1975175)
فهرسة مساهمة: Keywords: (FRAM); (IGFBP7); (RAMSVPS); Coats’-like retinopathy; Coronary artery aneurysm; Familial retinal arterial macroaneurysms; Insulin-like growth factor binding protein 7; Myocardial infarction; Retinal arterial macroaneurysms with supravalvular pulmonic stenosis
تواريخ الأحداث: Date Created: 20220425 Latest Revision: 20220716
رمز التحديث: 20221213
مُعرف محوري في PubMed: PMC9027035
DOI: 10.1016/j.ajoc.2022.101514
PMID: 35464689
قاعدة البيانات: MEDLINE
الوصف
تدمد:2451-9936
DOI:10.1016/j.ajoc.2022.101514