Images in Cardiovascular Medicine Imaging Findings in a Child With Loeys-Dietz Syndrome
نویسنده
چکیده
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 factorreceptor 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; and a superior mesenteric artery
منابع مشابه
Imaging findings in a child with Loeys-Dietz syndrome.
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 mutatio...
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BACKGROUND AND PURPOSE Loeys-Dietz syndrome (LDS) is a recently described entity that has the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Its neuroradiologic manifestations have not been well delineated. We sought to describe the neuroradiologic features of LDS and to assess the manifestations that would warrant follow-up imaging. MATERIALS AND ...
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