Loeys–Dietz syndrome

Loeys–Dietz Syndrome

Diagram of autosomal dominant inheritance pattern

Loeys–Dietz syndrome (LDS) is a rare genetic disorder that affects the connective tissue in the body. It is characterized by a wide range of symptoms and physical findings that can vary greatly among affected individuals. The syndrome is named after Dr. Bart Loeys and Dr. Harry Dietz, who first described the condition in 2005.

Genetics

Loeys–Dietz syndrome is primarily caused by mutations in the TGFBR1, TGFBR2, SMAD3, TGFB2, and TGFB3 genes. These genes are involved in the transforming growth factor beta (TGF-_) signaling pathway, which plays a crucial role in the development and maintenance of connective tissues. The condition is inherited in an autosomal dominant pattern, meaning that a mutation in just one of the two copies of the gene is sufficient to cause the disorder.

Clinical Features

Individuals with Loeys–Dietz syndrome may present with a variety of clinical features, including:

• Aortic aneurysm and dissection
• Arterial tortuosity
• Hypertelorism (widely spaced eyes)
• Bifid uvula or cleft palate
• Scoliosis
• Joint hypermobility
• Skin abnormalities such as easy bruising and translucent skin

Diagnosis

The diagnosis of Loeys–Dietz syndrome is based on clinical evaluation, family history, and genetic testing. Imaging studies such as echocardiograms and MRI may be used to assess the cardiovascular system, particularly the aorta, for any abnormalities.

Management

Management of Loeys–Dietz syndrome involves regular monitoring and medical interventions to prevent complications. This may include:

• Regular cardiovascular imaging to monitor the aorta and other arteries
• Surgical intervention for aortic aneurysms or dissections
• Orthopedic management for skeletal abnormalities
• Genetic counseling for affected individuals and their families

Prognosis

The prognosis for individuals with Loeys–Dietz syndrome varies depending on the severity of the symptoms and the presence of complications. Early diagnosis and appropriate management can improve outcomes and quality of life.

Related Pages

• Marfan syndrome
• Ehlers-Danlos syndrome
• Connective tissue disease