Clinical Variability in Two Macedonian Families with Arterial Tortuosity Syndrome.

Balkan J Med Genet

Department of Molecular and Translational Medicine, Division of Biology and Genetics, School of Medicine, University of Brescia, Brescia, Italy.

Published: June 2018

Arterial tortuosity syndrome (ATS) is a rare autosomal recessive disorder caused by mutations in the solute carrier family 2 member 10 () gene encoding a glucose/ascorbic acid transporter. The clinical features of ATS are mild-to-severe tortuosity of the large and medium arteries throughout the body, accompanied by dysmorphisms and joint laxity. Vascular changes in different parts of the body lead to stenosis and/or aneurysms requiring difficult surgical procedures. Here we present two new patients with ATS from two unrelated families. Patient 1 presented at 10 years of age with headache and typical physical appearance, delicate skeleton, large visible pulsation of the carotid arteries in the neck, and joint laxity. On computed tomography (CT) angiography she had severe tortuosity of the aortal branches and cerebral arteries, but no significant tortuosity of the pulmonary arteries. Two cousins of the girl carried the same homozygous c.254T>C, p.(Leu85Pro) mutation in , however, they additionally had a severe involvement of the pulmonary vessels. Patient 2 was a 9-year-old girl diagnosed with severe tortuosity and stenosis of the pulmonary arteries and progressive myocardiopathy. Her physical appearance was very similar to Patient 1, except that she also had growth retardation. After long-term follow-up by cardiologists, she underwent cardiac surgery abroad, with an unfavorable outcome. Homozygosity for the c.685C>T, p.(Arg229*) mutation in the gene was detected. Consanguinity was disclosed within both families. Our findings confirm the intrafamilial phenotype variability of ATS. A novel finding is the severe tortuosity of cerebral arteries causing migraine that has not been described before in a child with ATS.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231313PMC
http://dx.doi.org/10.2478/bjmg-2018-0009DOI Listing

Publication Analysis

Top Keywords

severe tortuosity
12
arterial tortuosity
8
tortuosity syndrome
8
joint laxity
8
physical appearance
8
cerebral arteries
8
pulmonary arteries
8
tortuosity
7
arteries
6
ats
5

Similar Publications

Background: The presence of significant tortuosity in access routes to aneurysms can interfere with catheter guidance and manipulation and significantly impact treatment strategies.

Observations: In this report, the authors combined intentional staged aneurysm embolization with the construction of a new direct access route, which they call a "highway bypass," for a symptomatic posterior circulation cerebral aneurysm that was difficult to access with a catheter. Notably, the highway bypass is used for catheter passage, and technical tips should be considered.

View Article and Find Full Text PDF

Diabetic macular edema (DME) is a significant cause of vision loss. The development of peripheral non-perfusion (PNP) might be associated with the natural course, severity, and treatment of DME. The present study seeks to understand the predictive power of central macular changes and clinico-demographic features for PNP in patients with clinically significant DME.

View Article and Find Full Text PDF

Background: Middle cerebral artery (MCA) stenosis affects lenticulostriate arteries (LSAs) that supply the basal ganglia. Increased spatial resolution and signal-to-noise ratio of 7 T could facilitate morphological imaging of very-small-diameter LSAs.

Purpose: To evaluate differences in morphological characteristics of LSA among different MCA stenoses.

View Article and Find Full Text PDF

cHild -in-mothEr Approach for DeliverING Renal Denervation System: The HEADING-IN Technique.

Catheter Cardiovasc Interv

January 2025

Division of Cardiology, Ospedale degli Infermi, ASL, Biella, Italy.

Renal denervation is an emerging strategy for the management of uncontrolled hypertension. However, real-world experience is still modest, in particular for the management of complex anatomy, with available data being limited to the selected population of randomized clinical trials. We first describe the feasibility of delivering the renal denervation system to the target site with a child-in-mother technique, using a common coronary guiding extension, in a patient with severe tortuosity and double renal arteries.

View Article and Find Full Text PDF

Background: To construct a nomogram combining CT varices vein evaluation and clinical laboratory tests for predicting the risk of esophageal gastric variceal bleeding (EGVB) in patients with noncirrhotic portal hypertension (NCPH).

Methods: A total of 315 NCPH patients with non-EGVB and EGVB were retrospectively enrolled and randomly divided into training and testing cohorts. Thirteen collateral vessels were identified and evaluated after CT portal vein system reconstruction.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!