1 Imaging cardiovascular features of a family with type 4 loeys-dietz syndrome. (15th May 2019)

• Record Type: Journal Article
• Authors: Budaj, Irilda; Gupta, Prity; Saggar, Anand; Nienaber, Christopher; Morris-Rosendahl, Deborah; Mirsadraee, Saeed
• Is Part Of: Heart. Volume 105(2019)Supplement 5
• Page Start: A1
• Page End: A1
• Publication Date: 2019-05-15
• Subjects: Heart -- Diseases -- Treatment -- Periodicals; Cardiology -- Periodicals; 616.12
• DOI: 10.1136/heartjnl-2019-BSCI.1
• Languages: English
• ISSNs: 1355-6037

Abstract

Abstract : Introduction: Loeys-Dietz syndrome (LDS) is an inherited autosomal dominant disorder caused by pathogenic variants in the genes involved in TGFβ signaling. There is a wide phenotypic spectrum of cardiovascular, skeletal, craniofacial and cutaneous manifestations. The hallmark of this rare connective tissue disorder is progressive aortic and peripheral arterial aneurysmal disease leading to acute events. We evaluated the range of cardiovascular abnormalities in a family with type 4 LDS. The background literature data and screening strategy is discussed. Methods: We retrospectively studied the radiological cardiovascular findings in 23 members of a family with features of LDS who were monitored with echocardiogram. 17 were investigated with MRI and 9 with CT. The head and neck arteries, the aorta and its visceral branches, iliac and femoral arteries were assessed. Size of the vessels, tortuosity, length and presence and the onset of arterial dissection were investigated. Results: 11/23 patients revealed arterial abnormalities, all with TGFB2 variant. Two patients had type-A dissection at the age of 48 and 49, one treated surgically and the other medically. Three patients with aortic root dilatation underwent preventive personalized external aortic root support procedure (PEARS). The other abnormalities included: mild aortic root dilatation (3), infrarenal aortic aneurysm (1), tortuosity of carotid (2) and vertebral arteries (1), aneurysmal iliac arteries (1), dilated coeliac trunk and superior mesenteric arteries (1). Conclusion: Vascular abnormalities are common in patients with familial history of LDS and can predispose to potentially fatal events in later life. Assessing for cardiovascular risk in LDS is crucial.