This is a genotype with recommended actions if clinically confirmed. In brief:
- Loeys-Dietz syndrome (LDS) comprises combinations of various clinical issues with vascular, skeletal, immune, eye and gastrointestinal manifestations.
- LDS subtypes from most to least severe are LDS1 & 2 (due to TGFBR1 & TGFBR2 mutations; with craniofacial features), LDS3 (SMAD3; with osteoarthritis), LDS4 (TGFB2), and LDS5 (TGFB3).
- Life-threatening consequences of LDS mutations include being predisposed to arterial aneurysms and, during pregnancy, rupture of the spleen, bowel, and uterus.
- Management of LDS is most effective through the coordinated input of a multidisciplinary team of specialists including a clinical geneticist, cardiologist, ophthalmologist, orthopedist, and cardiothoracic surgeon, and may include prophylactic surgery.
- 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.
- Patients should undergo complete aortic imaging periodically.
- Patients should avoid heart stimulating drugs, heavy lifting, and competitive sports that involve intense exercise or bodily collisions.
The full ClinGen Actionability report about Loeys-Dietz syndrome (LDS) can be found here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.