Loeys–Dietz syndrome presenting as respiratory distress due to pulmonary artery dilation

• Published in: American journal of medical genetics. Part A 2012-05, Vol.158A (5), p.1212-1215
• Main Authors: Kuppler, Kevin M., Kirse, Daniel J., Thompson, James T., Haldeman‐Englert, Chad R.
• Format: Article
• Language: English
• Subjects: Aorta - pathology; aortic root dilation; Biological and medical sciences; Blood and lymphatic vessels; Cardiology. Vascular system; Craniosynostoses; Dilatation, Pathologic; Diseases of the osteoarticular system; Diseases of the peripheral vessels. Diseases of the vena cava. Miscellaneous; Humans; Infant; Infant, Newborn; Loeys-Dietz Syndrome - complications; Loeys-Dietz Syndrome - diagnosis; Loeys–Dietz syndrome; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; Medical genetics; Medical sciences; Pneumology; Pulmonary Artery - pathology; pulmonary artery aneurysm; pulmonary artery dilation; respiratory distress; Respiratory Distress Syndrome, Newborn - etiology; Respiratory system : syndromes and miscellaneous diseases; squamosal suture craniosynostosis
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.35274

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.