摘要
Loeys-Dietz syndrome （LDS, OMIM #609192） is a recently recognized connective tissue disorder with clinical characteristics similar to Marfan syndrome. Aggressive aortic pathologies in LDS makes timely diagnosis and surgical intervention crucial compared to other genetic syndromes. We report a young man with LDS confirmed by genetic testing who twice underwent surgical operations to repair aortic aneurysm.
Loeys-Dietz syndrome （LDS, OMIM #609192） is a recently recognized connective tissue disorder with clinical characteristics similar to Marfan syndrome. Aggressive aortic pathologies in LDS makes timely diagnosis and surgical intervention crucial compared to other genetic syndromes. We report a young man with LDS confirmed by genetic testing who twice underwent surgical operations to repair aortic aneurysm.
