Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature.

ABSTRACT:

Background

Pathogenic SMAD3 variants are responsible for a cardiovascular phenotype, mainly thoracic aortic aneurysms and dissections. Precocious identification of the vascular risk such as aortic dilatation in mutated patients has a major impact in terms of management, particularly to avoid dissection and sudden death. These vascular damages are classically associated with premature osteoarthritis and skeletal abnormalities. However, variable expressivity and incomplete penetrance are common with SMAD3 variants.

Methods

To investigate the clinical variability observed within SMAD3 patients, we reviewed the phenotypic and genetic data of 22 new patients from our Centre and of 133 patients reported in the literature. From this cohort of 155 mutated individuals, we first aimed

SUBMITTER: Chesneau B 

PROVIDER: S-EPMC7216810 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature