Marfan類縁疾患とは，Marfan症候群と類似した症状や特徴を持つ遺伝性結合組織疾患を指し，Marfan症候群とともに遺伝性大動脈疾患（heritable thoracic aortic disease: HTAD）に含有される．近年の遺伝子解析の進歩により，これらの疾患の関連遺伝子が多く明らかになり，診断および重症度分類における遺伝子検査の重要性が増している．Marfan症候群は一生涯にわたって進行する多系統疾患で，遺伝科・循環器科・眼科・整形外科・胸部外科・産科の専門科チームと連携しながら，生涯にわたってフォローをする必要がある．また，年齢によって注意すべき症状が異なる．特に大動脈基部拡張の評価・治療が重要で，内科的・外科的治療の選択肢を踏まえながらフォローする必要がある．また，妊娠リスクに関する理解など，小児期から成人移行を見据えた管理が必要である．
Marfan syndrome is a genetic disorder that affects the connective tissue. Many conditions share features with Marfan syndrome, and they are referred to as heritable thoracic aortic diseases. Recent advances in genetic analysis have revealed many genes associated with these disorders, indicating the importance of genetic testing in diagnosis and severity classification. Marfan syndrome is a multisystem disorder that progresses over a lifetime and requires lifelong follow-up with a team of specialists in genetic medicine, cardiology, ophthalmology, orthopedics, thoracic surgery, and obstetrics. Additionally, the symptoms to watch for vary with age. The evaluation and treatment of aortic root dilation are particularly important, and follow-up should be based on the medical and surgical treatment options. Moreover, management should focus on the patients’ transition from childhood to adulthood, including an understanding of pregnancy risk.
Key words: heritable thoracic aortic disease; multisystem disorder; annulo-aortic ectasia; pregnancy; transition
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This page was created on 2025-04-15T11:01:42.023+09:00
This page was last modified on 2025-05-23T16:20:48.000+09:00
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