Ascending Aortic Rupture in a Young Woman with Loeys-Dietz Syndrome: The First Case Report in Korea / 대한흉부외과학회지

Characterized by unique phenotypic features such as aortic aneurysm/dissection, hypertelorism, bifid uvula/cleft palate and generalized tortuosity in the arterial system, Loeys-Dietz syndrome is a newly described aggressive connective tissue disorder associated with mutation in the gene encoding transforming growth factor-beta receptor type I or type II. Some phenotypic manifestations of Loeys-Dietz syndrome overlap with those of Marfan syndrome or Ehlers-Danlos syndrome type IV. However, due to its more malignant pathophysiologic nature, physicians should be alert to Loeys-Dietz syndrome. High suspicion, early diagnosis, preventive surgery and serial imaging assessments are warranted for optimal management of Loeys-Dietz syndrome. We present here a case of a young patient with Loeys-Dietz syndrome who had aortic rupture, bifid uvula and hypertelorism. We also present a review of the medical literature.

Congenital Anomalies of Aortic Arch: CT Angiography

Aortic arch anomalies result from the failure of an embryonic vascular structure to persist and regress in the usual manner during formation of the aortic arch. The anomalous aortic arch may encircle and compress the trachea and esophagus as a form of a vascular ring. The diagnosis of aortic arch anomaly and the recognition of airway compression are important because they are conditions which complicate the natural and surgical course of related diseases. CT can demonstrate the nature of anatomic structures such as the trachea and esophagus not revealed by angiography, simultaneously disclosing the relationship of stenotic airways and offending mediastinal vessels. Volumetric data acquisition by means of spiral CT enables three dimensional reconstruction,which can provide easy global understanding of the complex anatomy and spatial relationship of airway and cardiovascular structures. Three dimensional imaging is very useful for the physician and surgeon who are not accustomed to mentally reconstructing axial images, and can facilitate surgical planning.