True Radial Artery Aneurysm in a Patient with Somatic Mosaicism for a Mutation in Platelet-derived Growth Factor Receptor β Gene

Overview

Journal J Vasc Surg Cases Innov Tech

Date 2021 Sep 10

PMID 34504985

Citations 1

Authors

Sherene Shalhub

Lisa Hysa

Peter H Byers

Mark H Meissner

Manuel Ferreira Jr

Affiliations

Soon will be listed here.

Abstract

We have presented the case of a right radial artery aneurysm (RAA) in a 27-year-old man with cerebral and coronary artery aneurysms and features of Parkes-Weber syndrome (port-wine stains and right upper extremity arteriovenous malformation and overgrowth). The RAA was repaired with an interposition great saphenous vein bypass graft. Analysis of the intracranial artery aneurysm and affected skin demonstrated a somatic mutation in the platelet-derived growth factor receptor-β gene. Mosaicism was present in the RAA but not in the great saphenous vein. Somatic mosaicism should be considered as a possible etiology for peripheral aneurysms in patients for whom standard genetic test results are unrevealing.

Citing Articles

Iliac artery dissection and rupture in a patient with classic Ehlers-Danlos syndrome due to null variant.

Pujari A, Shalhub S J Vasc Surg Cases Innov Tech. 2024; 10(3):101443.

PMID: 38572164 PMC: 10988040. DOI: 10.1016/j.jvscit.2024.101443.

References

Correia M, Antunes L, Goncalves O . Aneurysms of the Upper Limb: Review of an Experience. Rev Port Cir Cardiotorac Vasc. 2018; 24(3-4):152. View

Lee B, Laredo J, Lee T, Huh S, Neville R . Terminology and classification of congenital vascular malformations. Phlebology. 2008; 22(6):249-52. DOI: 10.1177/026835550702200604. View

Maalouly J, Aouad D, Saidy E, Tawk A, Baaklini G, Cortbawi C . Atraumatic Left Distal Radial Artery Aneurysm. Case Rep Orthop. 2019; 2019:4608171. PMC: 6748208. DOI: 10.1155/2019/4608171. View

Banzic I, Brankovic M, Maksimovic Z, Davidovic L, Markovic M, Rancic Z . Parkes Weber syndrome-Diagnostic and management paradigms: A systematic review. Phlebology. 2016; 32(6):371-383. DOI: 10.1177/0268355516664212. View

Yamamoto Y, Kudo T, Igari K, Toyofuku T, Inoue Y . Radial artery aneurysm in the anatomical snuff box: A case report and literature review. Int J Surg Case Rep. 2016; 27:44-47. PMC: 4992002. DOI: 10.1016/j.ijscr.2016.08.015. View

Vanlandewijck M, Lebouvier T, Mae M, Nahar K, Hornemann S, Kenkel D . Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification. PLoS One. 2015; 10(11):e0143407. PMC: 4658112. DOI: 10.1371/journal.pone.0143407. View

Yukios U, Matsuno Y, Imaizumi M, Mori Y, Iwata H, Takiya H . Bilateral radial artery aneurysms in the anatomical snuff box seen in marfan syndrome patient: case report and literature review. Ann Vasc Dis. 2013; 2(3):185-9. PMC: 3595740. DOI: 10.3400/avd.AVDcr09010. View

Foster A, Chalot B, Antoniadi T, Schaefer E, Keelagher R, Ryan G . Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications. Clin Genet. 2020; 98(1):19-31. DOI: 10.1111/cge.13752. View

Ha S, Lee S, Kwon M, Kim Y, Lee E, Seo J . PDGFB rearrangement in dermatofibrosarcoma protuberans: correlation with clinicopathologic characteristics and clinical implications. Hum Pathol. 2013; 44(7):1300-9. DOI: 10.1016/j.humpath.2012.09.021. View

10.

Hughes M, Hao M, Luu M . PIK3CA vascular overgrowth syndromes: an update. Curr Opin Pediatr. 2020; 32(4):539-546. DOI: 10.1097/MOP.0000000000000923. View

11.

Kuntz S, Lejay A, Georg Y, Thaveau F, Chakfe N . Management of upper extremity aneurysms: a systematic review. Int Angiol. 2020; 39(2):161-170. DOI: 10.23736/S0392-9590.20.04307-2. View

12.

Nicolas G, Jacquin A, Thauvin-Robinet C, Rovelet-Lecrux A, Rouaud O, Pottier C . A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia. Eur J Hum Genet. 2014; 22(10):1236-8. PMC: 4169546. DOI: 10.1038/ejhg.2014.9. View

13.

Karasozen Y, Osbun J, Parada C, Busald T, Tatman P, Gonzalez-Cuyar L . Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms. Am J Hum Genet. 2019; 104(5):968-976. PMC: 6506794. DOI: 10.1016/j.ajhg.2019.03.014. View

14.

Ghaffarian A, Brooke B, Rawles J, Sarfati M . Repair of a symptomatic true radial artery aneurysm at the anatomic snuff box with interposition great saphenous vein graft. J Vasc Surg Cases Innov Tech. 2018; 4(4):292-295. PMC: 6282638. DOI: 10.1016/j.jvscit.2018.08.005. View

15.

Hellstrom M, Kalen M, Lindahl P, Abramsson A, Betsholtz C . Role of PDGF-B and PDGFR-beta in recruitment of vascular smooth muscle cells and pericytes during embryonic blood vessel formation in the mouse. Development. 1999; 126(14):3047-55. DOI: 10.1242/dev.126.14.3047. View

16.

Dawson J, Fitridge R . Update on aneurysm disease: current insights and controversies: peripheral aneurysms: when to intervene - is rupture really a danger?. Prog Cardiovasc Dis. 2013; 56(1):26-35. DOI: 10.1016/j.pcad.2013.05.002. View

17.

Johnston J, Sanchez-Contreras M, Keppler-Noreuil K, Sapp J, Crenshaw M, Finch N . A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome. Am J Hum Genet. 2015; 97(3):465-74. PMC: 4564935. DOI: 10.1016/j.ajhg.2015.07.009. View

18.

Hettmer S, Dachy G, Seitz G, Agaimy A, Duncan C, Jongmans M . Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group. Fam Cancer. 2020; 20(4):327-336. PMC: 8484085. DOI: 10.1007/s10689-020-00204-2. View

19.

Paller A, Syder A, Chan Y, Yu Q, Hutton E, Tadini G . Genetic and clinical mosaicism in a type of epidermal nevus. N Engl J Med. 1994; 331(21):1408-15. DOI: 10.1056/NEJM199411243312103. View