Loeys-Dietz syndrome: cardiovascular, neuroradiological and musculoskeletal imaging findings
VB Kalra, JW Gilbert, A Malhotra - Pediatric radiology, 2011 - Springer
VB Kalra, JW Gilbert, A Malhotra
Pediatric radiology, 2011•SpringerLoeys-Dietz syndrome (LDS) is an increasingly recognized autosomal-dominant connective
tissue disorder with distinctive radiological manifestations, including arterial
tortuosity/aneurysms, craniofacial malformations and skeletal abnormalities. LDS exhibits a
more aggressive course than similar disorders, such as Marfan or the vascular subtype of
Ehlers-Danlos syndrome, with morbidity and mortality typically resulting from complications
of aortic/arterial dissections. Early diagnosis, short-interval follow-up imaging and …
tissue disorder with distinctive radiological manifestations, including arterial
tortuosity/aneurysms, craniofacial malformations and skeletal abnormalities. LDS exhibits a
more aggressive course than similar disorders, such as Marfan or the vascular subtype of
Ehlers-Danlos syndrome, with morbidity and mortality typically resulting from complications
of aortic/arterial dissections. Early diagnosis, short-interval follow-up imaging and …
Abstract
Loeys-Dietz syndrome (LDS) is an increasingly recognized autosomal-dominant connective tissue disorder with distinctive radiological manifestations, including arterial tortuosity/aneurysms, craniofacial malformations and skeletal abnormalities. LDS exhibits a more aggressive course than similar disorders, such as Marfan or the vascular subtype of Ehlers-Danlos syndrome, with morbidity and mortality typically resulting from complications of aortic/arterial dissections. Early diagnosis, short-interval follow-up imaging and prophylactic surgical intervention are essential in preventing catastrophic cardiovascular complications. This review focuses on the cardiovascular, neuroradiological and musculoskeletal imaging findings in this disorder and recommendations for follow-up imaging.
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