Isolated aortic root dilation in homocystinuria.

ABSTRACT:

Background

Vascular complications in homocystinuria have been known for many years, but there have been no reports to date on involvement of the ascending aorta.

Methods

We conducted a cross-sectional study of patients with homocystinuria, known to a single metabolic centre, and evaluated in 2016 with a transthoracic echocardiogram. Aortic root dilation was defined as Z-score ≥ 2.0 SD, and graded mild (Z-score 2.0-3.0), moderate (Z-score 3.01-4.0) and severe (Z-score > 4.0).

Results

The study population included 34 patients, median age of 44.3 years (IQR 33.3-52.2), 50% males, 69% diagnosed aged <18 years and 29% pyridoxine-responsive. Eight (24%) had a history of hypertension. Seven patients (21%) were found to have a dilation of the aortic root, mild in two cases (6

SUBMITTER: Lorenzini M 

PROVIDER: S-EPMC5786652 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature