How to Cite this Article: Kuppler KM, Kirse DJ, Thompson JT, Haldeman-Englert CR. 2012. Loeys–Dietz syndrome presenting as respiratory distress due to pulmonary artery dilation. Am J Med Genet Part A. 158A:1212–1215.
Loeys–Dietz syndrome presenting as respiratory distress due to pulmonary artery dilation†
Article first published online: 9 APR 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 5, pages 1212–1215, May 2012
How to Cite
Kuppler, K. M., Kirse, D. J., Thompson, J. T. and Haldeman-Englert, C. R. (2012), Loeys–Dietz syndrome presenting as respiratory distress due to pulmonary artery dilation. Am. J. Med. Genet., 158A: 1212–1215. doi: 10.1002/ajmg.a.35274
- Issue published online: 18 APR 2012
- Article first published online: 9 APR 2012
- Manuscript Accepted: 19 DEC 2011
- Manuscript Received: 29 AUG 2011
- Loeys–Dietz syndrome;
- pulmonary artery aneurysm;
- aortic root dilation;
- pulmonary artery dilation;
- respiratory distress;
- squamosal suture craniosynostosis
Loeys–Dietz syndrome (LDS) is an autosomal dominant connective tissue condition with clinical features that may include ocular hypertelorism, cleft palate, craniosynostosis, and vascular dilation and tortuosity. Here we describe a patient with LDS confirmed by genetic analysis (R528H mutation of TGFBR2) who presented at 3 months of age in respiratory distress of unknown origin. In addition to expressing several of the classic findings of LDS, including a novel finding of squamosal suture craniosynostosis, CT angiography revealed aortic dilation at the sinus of valsalva, pulmonary artery dilation that extrinsically compressed the right mainstem bronchus causing bronchomalacia, and an apical herniation of the right lung. This is the first documentation of concomitant airway and pulmonary findings in a patient with LDS. We suggest that (1) vascular abnormalities be considered as a cause of unexplained respiratory distress in a patient with LDS, and (2) pediatric patients exhibiting any of the physical findings listed above be evaluated for LDS with particular attention paid to vascular, airway, and/or pulmonary malformations. © 2012 Wiley Periodicals, Inc.