Abstract
Loyes-Dietz (LDS) is an autosomal dominant disease. LDS is characterized by vascular findings and skeletal manifestations.
Two types od LDS have been describe. Approximately 75% of affected individuals have type I with craniofacial manifestations; approximately 25% have LDS type II with cutaneous manifestations.
LDSI and LDSII are clinical continuum. The severity of LDS is due to high mortality at young age and high incidence of pregnancy-related complications.
The diagnosis of LDS is based on characteristic clinical findings in the proband and family members and molecular genetic testing of TGFBR1 and TGFBR2. No differences in fenotype are observed between individuals with mutations in TGFBR1 and TGFBR2.
Aortic dissection occurs at smaller aortic diameters than observed in Marfan syndrome and vascular disease is not limited to the aortic root. Aneurysma are amenable to early surgical intervention.
Beta-adrenergic blockers are used to reduce hemodynamic stress. Surgical fixation of cervical spine instability is used to prevent spinal cord damage.
Standard treatment is used for managing cleft palate and craniosynostosis. Patients with LDS require regular echocardiography to monitor the status of the ascending aorta.
Magnetic resonance angiography or computerized tomography can be used for monitoring of patients.