J.Jpn. Surg. Soc.. 119(2): 164-171, 2018

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Feature topic

IMPACT OF GENETIC INVESTIGATIONS ON SURGICAL TREATMENT OF CARDIOVASCULAR DISEASES IN PATIENTS WITH INHERITED CONNECTIVE TISSUE DISORDERS

In the field of cardiovascular surgery, special care must be taken for patients with inherited cardiovascular diseases, including determination of the surgical indications and procedures to be used. Among inherited cardiovascular diseases, those associated with connective tissue disorders (CTDs) are occasionally fatal due to critical sequelae caused by cardiovascular tissue fragility. In particular, inherited CTDs such as Marfan syndrome, Loeys-Dietz syndrome, and Ehlers-Danlos syndrome can cause spontaneous aortic dissection, which is lethal in some instances due to serious bleeding complications. There are also significant differences in prognosis between patients with and without aortic dissection. In patients with such inherited CTDs, it is thus extremely important to make a precise diagnosis before the onset of aortic dissection and rupture. In addition, 25％ of Marfan syndrome and 50％ of Loeys-Dietz syndrome patients show isolated onset without a family history. Consequently, precise diagnoses through the establishment of genetic testing and the development of adequate treatment strategies are essential for achieving more favorable outcomes.

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