Large- and medium-sized arterial aneurysms in two patients with SMAD4-related juvenile polyposis syndrome

Wenneke van Weelden; Fonnet E Bleeker; Diana van Stijn; Dimitra Micha; Alessandra Maugeri; Taco W Kuijpers; Arjun D Koch; Cora M Aalfs; Anja Wagner; Maarten Groenink; Jakob van Oldenrijk; Marieke J Baars; Floor A M Duijkers

doi:10.1002/ajmg.a.63605

Large- and medium-sized arterial aneurysms in two patients with SMAD4-related juvenile polyposis syndrome

Wenneke van Weelden, Fonnet E Bleeker, Diana van Stijn, Dimitra Micha, Alessandra Maugeri, Taco W Kuijpers, Arjun D Koch, Cora M Aalfs, Anja Wagner, Maarten Groenink, Jakob van Oldenrijk, Marieke J Baars, Floor A M Duijkers

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Abstract

Germline SMAD4 pathogenic variants (PVs) cause juvenile polyposis syndrome (JPS), which is known for an increased risk of gastrointestinal juvenile polyps and gastrointestinal cancer. Many patients with SMAD4 PV also show signs of hereditary hemorrhagic telangiectasia (HHT) and some patients have aneurysms and dissections of the thoracic aorta. Here we describe two patients with a germline SMAD4 PV and a remarkable clinical presentation including multiple medium-sized arterial aneurysms. More data are needed to confirm whether the more extensive vascular phenotype and the other described features in our patients are indeed part of a broader JPS spectrum.

Original language	English
Article number	e63605
Journal	American Journal of Medical Genetics. Part A
Volume	194
Issue number	10
Early online date	16 May 2024
DOIs	https://doi.org/10.1002/ajmg.a.63605
Publication status	Published - Oct 2024

Keywords

aneurysm
connective tissue disorder
juvenile polyposis syndrome
Kawasaki
SMAD4

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American J of Med Genetics Pt A - 2024 - Weelden - Large‐ and medium‐sized arterial aneurysms in two patients withFinal published version, 1.05 MBLicence: CC BY-NC-ND

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van Weelden, W., Bleeker, F. E., van Stijn, D., Micha, D., Maugeri, A., Kuijpers, T. W., Koch, A. D., Aalfs, C. M., Wagner, A., Groenink, M., van Oldenrijk, J., Baars, M. J., & Duijkers, F. A. M. (2024). Large- and medium-sized arterial aneurysms in two patients with SMAD4-related juvenile polyposis syndrome. American Journal of Medical Genetics. Part A, 194(10), Article e63605. https://doi.org/10.1002/ajmg.a.63605

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title = "Large- and medium-sized arterial aneurysms in two patients with SMAD4-related juvenile polyposis syndrome",

abstract = "Germline SMAD4 pathogenic variants (PVs) cause juvenile polyposis syndrome (JPS), which is known for an increased risk of gastrointestinal juvenile polyps and gastrointestinal cancer. Many patients with SMAD4 PV also show signs of hereditary hemorrhagic telangiectasia (HHT) and some patients have aneurysms and dissections of the thoracic aorta. Here we describe two patients with a germline SMAD4 PV and a remarkable clinical presentation including multiple medium-sized arterial aneurysms. More data are needed to confirm whether the more extensive vascular phenotype and the other described features in our patients are indeed part of a broader JPS spectrum.",

keywords = "aneurysm, connective tissue disorder, juvenile polyposis syndrome, Kawasaki, SMAD4",

author = "{van Weelden}, Wenneke and Bleeker, {Fonnet E} and {van Stijn}, Diana and Dimitra Micha and Alessandra Maugeri and Kuijpers, {Taco W} and Koch, {Arjun D} and Aalfs, {Cora M} and Anja Wagner and Maarten Groenink and {van Oldenrijk}, Jakob and Baars, {Marieke J} and Duijkers, {Floor A M}",

note = "Publisher Copyright: {\textcopyright} 2024 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.",

year = "2024",

month = oct,

doi = "10.1002/ajmg.a.63605",

language = "English",

volume = "194",

journal = "American Journal of Medical Genetics. Part A",

issn = "1552-4825",

publisher = "John Wiley & Sons Inc.",

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van Weelden, W, Bleeker, FE, van Stijn, D, Micha, D, Maugeri, A, Kuijpers, TW, Koch, AD, Aalfs, CM, Wagner, A, Groenink, M, van Oldenrijk, J, Baars, MJ & Duijkers, FAM 2024, 'Large- and medium-sized arterial aneurysms in two patients with SMAD4-related juvenile polyposis syndrome', American Journal of Medical Genetics. Part A, vol. 194, no. 10, e63605. https://doi.org/10.1002/ajmg.a.63605

TY - JOUR

T1 - Large- and medium-sized arterial aneurysms in two patients with SMAD4-related juvenile polyposis syndrome

AU - van Weelden, Wenneke

AU - Bleeker, Fonnet E

AU - van Stijn, Diana

AU - Micha, Dimitra

AU - Maugeri, Alessandra

AU - Kuijpers, Taco W

AU - Koch, Arjun D

AU - Aalfs, Cora M

AU - Wagner, Anja

AU - Groenink, Maarten

AU - van Oldenrijk, Jakob

AU - Baars, Marieke J

AU - Duijkers, Floor A M

PY - 2024/10

Y1 - 2024/10

N2 - Germline SMAD4 pathogenic variants (PVs) cause juvenile polyposis syndrome (JPS), which is known for an increased risk of gastrointestinal juvenile polyps and gastrointestinal cancer. Many patients with SMAD4 PV also show signs of hereditary hemorrhagic telangiectasia (HHT) and some patients have aneurysms and dissections of the thoracic aorta. Here we describe two patients with a germline SMAD4 PV and a remarkable clinical presentation including multiple medium-sized arterial aneurysms. More data are needed to confirm whether the more extensive vascular phenotype and the other described features in our patients are indeed part of a broader JPS spectrum.

AB - Germline SMAD4 pathogenic variants (PVs) cause juvenile polyposis syndrome (JPS), which is known for an increased risk of gastrointestinal juvenile polyps and gastrointestinal cancer. Many patients with SMAD4 PV also show signs of hereditary hemorrhagic telangiectasia (HHT) and some patients have aneurysms and dissections of the thoracic aorta. Here we describe two patients with a germline SMAD4 PV and a remarkable clinical presentation including multiple medium-sized arterial aneurysms. More data are needed to confirm whether the more extensive vascular phenotype and the other described features in our patients are indeed part of a broader JPS spectrum.

KW - aneurysm

KW - connective tissue disorder

KW - juvenile polyposis syndrome

KW - Kawasaki

KW - SMAD4

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DO - 10.1002/ajmg.a.63605

M3 - Article

C2 - 38752492

SN - 1552-4825

VL - 194

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

IS - 10

M1 - e63605

ER -

Large- and medium-sized arterial aneurysms in two patients with SMAD4-related juvenile polyposis syndrome

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