1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review.

ABSTRACT:

Background

Monosomy 1p36 syndrome is now considered the most common terminal deletion syndrome, with an estimated incidence of 1 in 5000. Cardiac involvement is well described in the literature mainly in terms of congenital heart defects (CHDs) and cardiomyopathies (CMPs). Few data in the literature describe the potential progressive nature of aortic dilatation (root and ascending aorta) in 1p36 deletion syndrome. SKI harboured in the deleted region might play a predisposing factor for this aspect.

Methods

we reviewed the aortic aspect both in the literature and in our cohort, where major attention to the aortic abnormalities was given through dedicated echocardiographic measurements even in previously screened individuals.

Results

aortic involvement in 1p36 de

SUBMITTER: Lodato V 

PROVIDER: S-EPMC8618808 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature