Loeys-Dietz Syndrome
Loeys-Dietz Syndrome Causes
The illness is caused by a genetic mutations that encode the transforming growth factor beta receptor 1 (TGFBR1) or 2 (TGFBR2).
Loeys-Dietz Syndrome Definition
Loeys-Dietz syndrome is an autosomal dominant disorder similar to the Marfan syndrome. It was first discovered by Harry Dietz and Bart Loeys.
Loeys-Dietz Syndrome Diagnosis
The illness can be diagnosed through genetic testing and observation of the symptoms shown by the patient.
Loeys-Dietz Syndrome Symptoms and Signs
Symptoms of the disorder include orbital hypertolerism, aortic aneurysms, and cleft palate. Other ailments shown by people with this disease include congenital heart problems, joint hypermobility, scoliosis and club feet.
Loeys-Dietz Syndrome Treatment
Treatment is done by managing the symptoms shown by the patient. Loeys-Dietz is a lifelong illness. Vascular surgery can be done on patients who show high risks of aneurysm. Angiotensin II receptor antagonist losartan is still tested if it could be used to prevent aneurysms.