BabyScreen+ newborn screening

Gene: TGFBR1

Green List (high evidence)

Well established gene-disease association.

'Strongly actionable' by ClinGen in paediatric patients.

Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms which are the major source of morbidity and mortality. Aortic growth can be faster than 10mm per year. Aortic dissection has been observed in early childhood, and the mean age of death is 26 years. Other life-threatening manifestations include spontaneous rupture of the spleen, bowel, and uterine rupture during pregnancy.

Prophylactic surgical repair is typically recommended at an aortic diameter of ≥ 4.2 cm.

Beta-blockers or other medications can be used to reduce hemodynamic stress.

Individuals with a pathogenic variant in TGFBR1 or TGFBR2 should be taught the signs and symptoms of aortic dissection and should consider wearing a medical alert bracelet.

Careful and aggressive refraction and visual correction is mandatory in young children at risk for amblyopia.

Hernias tend to recur after surgical intervention. A supporting mesh can be used during surgical repair to minimize recurrence risk.

Use of subacute bacterial endocarditis prophylaxis should be considered for individuals with connective tissue disorders and documented evidence of mitral and/or aortic regurgitation who are undergoing dental work or other procedures expected to contaminate the bloodstream with bacteria.

Because of a high risk of cervical spine instability, a flexion and extension x-ray of the cervical spine should be performed prior to intubation or any other procedure involving manipulation of the neck.

Created: 23 Dec 2022, 6:36 a.m. | Last Modified: 23 Dec 2022, 6:36 a.m.

Panel Version: 0.1664

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Loeys-Dietz syndrome 1, MIM# 609192