Distinct patterns of vascular failure in COL1A1-associated osteogenesis imperfecta and FBN1-associated Marfan syndrome
- 1Department of Cardiovascular Surgery, Kyorin University
- 2Department of Cardiovascular Surgery, Sakakibara Heart Institute
- 3Department of Neurology, Kyorin University
Abstract
Introduction: Heritable connective tissue disorders are an important cause of aortic disease; however, the mechanisms of vascular failure in genetically defined aortopathies remain incompletely understood.
Methods: We analyzed the clinical course, imaging findings, and histopathologic features of two patients with clinically and genetically characterized connective tissue disorders: COL1A1-associated osteogenesis imperfecta and FBN1-associated Marfan syndrome.
Results: The COL1A1-associated patient developed multilevel arterial complications, including aortic regurgitation requiring aortic valve replacement at age 36, rupture of a dissected right common iliac artery in the same year, chronic type A aortic dissection requiring root, ascending, and arch replacement at age 54, and rupture of the infrarenal abdominal aorta at a diameter of only 30 mm. The FBN1-associated patient presented with type B aortic dissection at age 34 and subsequently developed progressive aneurysmal disease requiring staged thoracoabdominal replacement, total arch replacement for acute type A dissection, and aortic root replacement, followed by multiple peripheral vascular reconstructions. Histopathologic examination demonstrated valvular myxomatous degeneration in both cases. The aortic wall in both patients showed medial degeneration with fragmentation of elastic fibers. In addition, the COL1A1-associated patient demonstrated abdominal aortic wall thinning, with a minimum thickness of 1.25 mm.
Conclusions: These two patients exhibited contrasting longitudinal vascular courses despite some overlapping histopathologic findings. The COL1A1-associated OI patient experienced rupture of a dissected infrarenal aortic segment, whereas the FBN1-associated Marfan patient experienced repeated dissections followed by progressive vascular dilatation and multiple surgical reconstructions. These observations are descriptive and do not establish genotype-specific patterns or mechanisms of vascular failure.
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BibTeX
@article{kubota2026distinct,
title = {{Distinct patterns of vascular failure in COL1A1-associated osteogenesis imperfecta and FBN1-associated Marfan syndrome}},
author = {Hiroshi Kubota and Hidehito Endo and Masao Nunokawa and Toshihiko Isaji and Sachito Minegishi and Hiroshi Tsuchiya and Masaru Kimura and Toru Ikezoe and Yusuke Inaba and Yu Takahashi and Kouta Kogure and Tomohiro Iwakura and Yaeko Ichikawa and Yutaka Hosoi},
journal = {Frontiers in Cardiovascular Medicine},
year = {2026},
month = oct,
doi = {10.3389/fcvm.2026.1922704},
url = {https://www.frontiersin.org/articles/10.3389/fcvm.2026.1922704/full},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Distinct patterns of vascular failure in COL1A1-associated osteogenesis imperfecta and FBN1-associated Marfan syndrome
AU - Hiroshi Kubota
AU - Hidehito Endo
AU - Masao Nunokawa
AU - Toshihiko Isaji
AU - Sachito Minegishi
AU - Hiroshi Tsuchiya
AU - Masaru Kimura
AU - Toru Ikezoe
AU - Yusuke Inaba
AU - Yu Takahashi
AU - Kouta Kogure
AU - Tomohiro Iwakura
AU - Yaeko Ichikawa
AU - Yutaka Hosoi
PY - 2026
DA - 2026/10/27
JO - Frontiers in Cardiovascular Medicine
DO - 10.3389/fcvm.2026.1922704
UR - https://www.frontiersin.org/articles/10.3389/fcvm.2026.1922704/full
AB - Introduction: Heritable connective tissue disorders are an important cause of aortic disease; however, the mechanisms of vascular failure in genetically defined aortopathies remain incompletely understood. Methods: We analyzed the clinical course, imaging findings, and histopathologic features of two patients with clinically and genetically characterized connective tissue disorders: COL1A1-associated osteogenesis imperfecta and FBN1-associated Marfan syndrome. Results: The COL1A1-associated patient developed multilevel arterial complications, including aortic regurgitation requiring aortic valve replacement at age 36, rupture of a dissected right common iliac artery in the same year, chronic type A aortic dissection requiring root, ascending, and arch replacement at age 54, and rupture of the infrarenal abdominal aorta at a diameter of only 30 mm. The FBN1-associated patient presented with type B aortic dissection at age 34 and subsequently developed progressive aneurysmal disease requiring staged thoracoabdominal replacement, total arch replacement for acute type A dissection, and aortic root replacement, followed by multiple peripheral vascular reconstructions. Histopathologic examination demonstrated valvular myxomatous degeneration in both cases. The aortic wall in both patients showed medial degeneration with fragmentation of elastic fibers. In addition, the COL1A1-associated patient demonstrated abdominal aortic wall thinning, with a minimum thickness of 1.25 mm. Conclusions: These two patients exhibited contrasting longitudinal vascular courses despite some overlapping histopathologic findings. The COL1A1-associated OI patient experienced rupture of a dissected infrarenal aortic segment, whereas the FBN1-associated Marfan patient experienced repeated dissections followed by progressive vascular dilatation and multiple surgical reconstructions. These observations are descriptive and do not establish genotype-specific patterns or mechanisms of vascular failure.
SN - 2297-055X
ER -