Pathophysiology and Management of Cardiovascular Manifestations in Marfan and Loeys–Dietz Syndromes
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- Takeda Norifumi
- Department of Cardiovascular Medicine, The University of Tokyo Hospital
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- Yagi Hiroki
- Department of Cardiovascular Medicine, The University of Tokyo Hospital
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- Hara Hironori
- Department of Cardiovascular Medicine, The University of Tokyo Hospital
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- Fujiwara Takayuki
- Department of Cardiovascular Medicine, The University of Tokyo Hospital
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- Fujita Daishi
- Department of Cardiovascular Medicine, The University of Tokyo Hospital
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- Nawata Kan
- Department of Cardiovascular Surgery, The University of Tokyo Hospital
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- Inuzuka Ryo
- Department of Pediatrics, The University of Tokyo Hospital
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- Taniguchi Yuki
- Department of Orthopedic Surgery, The University of Tokyo Hospital
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- Harada Mutsuo
- Department of Cardiovascular Medicine, The University of Tokyo Hospital
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- Toko Haruhiro
- Department of Cardiovascular Medicine, The University of Tokyo Hospital
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- Akazawa Hiroshi
- Department of Cardiovascular Medicine, The University of Tokyo Hospital
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- Komuro Issei
- Department of Cardiovascular Medicine, The University of Tokyo Hospital
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抄録
Marfan syndrome (MFS) is an autosomal dominant heritable disorder of connective tissue that affects the cardiovascular, skeletal, ocular, pulmonary, and nervous systems and is usually caused by mutations in the FBN1 gene, which encodes fibrillin-1. MFS is traditionally considered to result from the structural weakness of connective tissue. However, recent investigations on molecular mechanisms indicate that increased transforming growth factor-β (TGF-β) activity plays a crucial role in the pathogenesis of MFS and related disorders, such as Loeys–Dietz syndrome (LDS), which is caused by mutation in TGF-β signaling-related genes. In addition, recent studies show that angiotensin II type 1 receptor (AT1R) signaling enhances cardiovascular pathologies in MFS, and the angiotensin II receptor blocker losartan has the potential to inhibit aortic aneurysm formation. However, the relationship between TGF-β and AT1R signaling pathways remains poorly characterized. In this review, we discuss the recent studies on the molecular mechanisms underlying cardiovascular manifestations of MFS and LDS and the ensuing strategies for management.
収録刊行物
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- International Heart Journal
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International Heart Journal 57 (3), 271-277, 2016
一般社団法人 インターナショナル・ハート・ジャーナル刊行会
