1. Imaging findings in a child with Loeys-Dietz syndrome
- Author
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Maurice Beghetti, Amira Dhouib, and Dominique Didier
- Subjects
Thorax ,Aortic arch ,Male ,medicine.medical_specialty ,Mutation/genetics ,Radiography ,Protein-Serine-Threonine Kinases/genetics ,Protein Serine-Threonine Kinases ,Loeys–Dietz syndrome ,ddc:616.0757 ,Magnetic resonance angiography ,Loeys-Dietz Syndrome/diagnosis/genetics/pathology ,Diagnosis, Differential ,Physiology (medical) ,medicine.artery ,medicine ,Humans ,Receptors, Transforming Growth Factor beta/genetics ,Hypertelorism ,Aorta ,Loeys-Dietz Syndrome ,ddc:618 ,medicine.diagnostic_test ,business.industry ,Receptor, Transforming Growth Factor-beta Type II ,Magnetic resonance imaging ,Anatomy ,medicine.disease ,Aortic Aneurysm ,Aortic Aneurysm/diagnosis/pathology ,Child, Preschool ,Mutation ,cardiovascular system ,Radiology ,medicine.symptom ,Cardiology and Cardiovascular Medicine ,business ,Receptors, Transforming Growth Factor beta ,Magnetic Resonance Angiography - Abstract
A 3-year-old boy being followed up for bilateral club foot underwent a routine thorax radiography that revealed aortic arch enlargement. Echocardiography showed sinus of Valsalva dilatation. Because of clinical features such as hypertelorism, bifid uvula, and prominent forehead, a genetic investigation was conducted that confirmed Loeys-Dietz syndrome (LDS) by identifying a heterozygous mutation in the gene encoding transforming growth factor-β receptor type 2 (TGFBR2). Whole-body magnetic resonance angiography was performed on a 1.5T machine. The magnetic resonance protocol included 3-dimensional contrast-enhanced angiographic sequences of the body and time-of-flight sequences of the brain. Whole-body magnetic resonance imaging demonstrated typical cardiovascular findings: Dilatation of the aorta at the level of sinus of Valsalva; tortuosity of the aortic arch, the 2 internal carotid arteries, the 2 vertebral arteries, and left subclavian artery; …
- Published
- 2012