Pediatric Marfan and Aortopathy Clinic

The UCLA Pediatric Marfan Clinic offers evaluation and treatment of children and young adults suspected of having Marfan Syndrome, and other genetic aortic diseases that lead to aortic aneurysms. New patient evaluations include an echocardiogram of the heart and exam with Dr. Perens. Genetic testing and counseling may be recommended. Follow up appointments for eye and cardiology evaluations may be scheduled on the same day. Transition to adult cardiology care is available with the UCLA Adult Congenital Heart Disease program here.

The UCLA Medical Center offers evaluation and treatment of the spine, heart and chest:

• Pediatric Orthopedics – scoliosis treatment and surgery
• Cardiothoracic Surgery – aortic and valve disease/chest wall (pectus) treatment and surgery
• Pediatric Surgery – chest wall (pectus) deformity surgery

Cardiology and Genetics care are provided at the Pediatric Cardiology offices and Ophthalmology (eyes) care at Jules Stein Eye Institute, across the street.

For an appointment, please call: Children's Heart Center (310) 267-7667

For an appointment with Ophthalmology, please call: Jules Stein Eye Institute (310) 794-9581

Young adults over the age of 21 are transitioned to the Adult Marfan Program within the UCLA Adult Congenital Heart Program. For an appointment, please call: UCLA-Adult Congenital Heart Disease Center (310) 825-9011

Children may be referred to evaluate for Marfan syndrome or a related connective tissue disorder for:

• Enlargement of aorta or mitral valve prolapse
• Tall, thin stature
• Deformity of the chest (pectus)
• Hypermobility
• Family history of Marfan syndrome or aortic dilation or dissection
• Dislocation of the lens of the eye

What is Marfan syndrome?

Marfan syndrome is a genetic disorder that affects the body's connective tissue. Connective tissue holds the body's cells, organs, and other tissue together. Connective tissue is also important in growth and development. Features of the disorder are most often found in the heart, blood vessels, bones, joints, and eyes.

What causes Marfan syndrome?

Marfan syndrome is caused by a defect (mutation) in the FBN1 gene. The FBN1 gene helps make a protein in connective tissue called fibrillin. The abnormal gene happens as follows:

• In about 3 out of 4 cases, the mutated gene is inherited from a parent who is affected. Each child of an affected parent has a 50% chance of having the disorder (autosomal dominant inheritance).
• In about 1 out of 4 cases, the mutation occurs for the first time, meaning it is not inherited from a parent.
• Marfan syndrome occurs about equally in boys and girls. It also occurs in all races and ethnic groups.

What are the signs and symptoms of Marfan syndrome?

• A child is more likely to have Marfan syndrome if he or she has a parent with the disorder.
• A child with Marfan syndrome can have many different signs and symptoms. The syndrome can affect the heart and blood vessels, bones and joints, and eyes. Symptoms can occur a bit differently in each child. They can include:
  • Specific heart findings such as enlargement of the aorta or mitral valve prolapse
  • Eye problems such as nearsightedness and dislocation of the lens of the eye
  • Distinctive facial features
  • Crowding of teeth
  • Tall, thin body
  • Abnormally shaped chest
  • Long arms, legs, and fingers
  • Curved spine
  • Flat feet
  • Poor healing of wounds or scars on the skin