全大動脈置換術後に大動脈関連遺伝子検査を施行したMarfan症候群

Marfan Syndrome After Undergoing Genetic Testing Related to the Aorta, Following a Staged Total Aortic Replacement

近年，遺伝子解析技術が進歩し，大動脈関連遺伝子の存在が明らかとなってきている．本邦でも大動脈関連遺伝子検査が保険償還され，以前より身近な検査となった．

A 59-year-old woman with a history of aortic dissection that began during pregnancy at the age of 34, which affected the aorta and its branches, underwent multiple surgeries, including aortic root replacement with a mechanical valve, staged total aortic replacement extending to the bilateral iliac arteries, coil embolization of a left internal thoracic artery aneurysm, and bypass surgeries from the brachiocephalic artery to the right common carotid artery and right axillary artery, as well as from the left subclavian artery to the left axillary artery. Following these procedures, genetic testing was performed, leading to a diagnosis of Marfan syndrome. Genetic test identified the mutation c.2677＋5 G＞A in exon 21 of the FBN1 gene （variant：NM_000138.5）. Even if the family history and phenotype do not meet the diagnostic criteria, genetic testing for aortic-related genes can play a supplementary role, leading to early and proactive antihypertensive treatment or surgical interventions to prevent events such as dissection or rupture.