Publications by authors named "Bert Louis Callewaert"

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pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium.

J Med Genet 2019 04 19;56(4):252-260. Epub 2019 Jan 19.

Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center, Houston, Texas, USA.

Background: Pathogenic variants in cause thoracic aortic aneurysms and dissections, along with aneurysms and rupture of other arteries. Here, we examined differences in clinical presentation of aortic events (dissection or surgical repair of an aneurysm) with respect to age and variant type in an international cohort of individuals with variants.

Methods: Aortic status and events, vital status and clinical features were abstracted through retrospective review of medical records of 212 individuals with 51 unique variants, including haploinsufficiency (HI) and missense substitutions in the MH2 domain, as well as novel in-frame deletions and missense variants in the MH1 domain.

Results: Aortic events were documented in 37% of cases, with dissections accounting for 70% of events. The median age at first aortic event was significantly lower in individuals with MH2 missense variants than those with HI variants (42years vs 49 years; p=0.003), but there was no difference in frequency of aortic events by variant type. The cumulative risk of an aortic event was 50% at 54 years of age. No aortic events in childhood were observed.

Conclusions: pathogenic variants cause thoracic aortic aneurysms and dissections in the majority of individuals with variable age of onset and reduced penetrance. Of the covariates examined, the type of underlying variant was responsible for some of this variation. Later onset of aortic events and the absence of aortic events in children associated with variants support gene-specific management of this disorder.
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April 2019