P699: Clinical and genetic counseling complexities in a neonate with arterial tortuosity syndrome and multiple incidental findings
Abstract
For the proband, a hybrid catheterization–surgical procedure was planned for management of pulmonary artery stenosis. Genetic counseling focused on the inheritance pattern, natural history, and recurrence risk of ATS. Comprehensive systemic evaluation was recommended, including full-body MR angiography, ophthalmologic assessment with keratometry, and renal artery ultrasound. The 33-year-old mother, currently asymptomatic, was counseled regarding her incidental findings. Discussions emphasized cancer and cardiac risks, age-dependent penetrance, and recurrence risk.
Fields of Study & Subjects
Connective tissue disorders research
Genomics and Rare Diseases
Dermatological and Skeletal Disorders
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 104189–104189
- Publication date
- 1 January 2026
- Language
- EN