Center for Marfan Syndrome and Related Connective Tissue Disorders

Location LPCH Heart Center 725 Welch Road, 1st floor Palo Alto, CA 94304    Monday-Friday, 8:30 am-4:00 pm

Phone: (650) 721-2121  Fax: (650) 497-8422

Services Overview

Lucile Packard Children's Hospital (LPCH) hosts one of the premier centers for the study and treatment of Marfan Syndrome in the nation. At LPCH, treatment of this genetic disease involves a coordinated multidisciplinary effort. Stanford hosts the most extensive program for Marfan-related thoracic aneurysm in California and one of the largest in the country.

Marfan syndrome is an inherited disorder of connective tissue that strikes at least one in 5,000 individuals. The genetic defect that causes the Marfan syndrome involves the connective tissues within several organs such as the heart, aorta, eyes and musculoskeletal system. Marfan syndrome affects both men and women, children and adults, and all races and ethnic groups. Without appropriate diagnosis and treatment, many Marfan patients die prematurely of cardiovascular complications. Marfan-related disorders include:

• Ehlers-Danlos Syndrome
• Annuoloaortic ectasia
• Homocystinuria
• Familial aortic aneurysms
• Mitral valve prolapse

The diagnosis of Marfan syndrome and related disorders is challenging for clinicians because no single symptom, sign or clinical test provides a definitive diagnosis. The Stanford Center for Marfan Syndrome and Related Connective Tissue Disorders provides a comprehensive consultative service to referring physicians for diagnosis, as well as specialists in:

• Cardiothoracic Surgery 
• Cardiovascular Medicine 
• Urology
• Functional Restoration
• Neurology 
• Ophthalmology
• Orthopedics
• Clinical Genetics
• Pediatric Surgery
• Dermatology
• Rheumatology
• Diagnostic Radiology
• Obstetrics & Gynecology

Diagnostic evaluation involves:

• Extensive family history analysis by clinical geneticists
• Detailed morphometric characterization of physical findings
• Diagnostic testing of connective tissue metabolism and DNA analysis
• Computer database analysis to link genetic defects with clinical features
• Eye examination by an ophthalmology specialist in genetic disorders
• Echocardiographic evaluation with special aortic views and vascular
• Cardiovascular evaluation by a specialist in vascular medicine

Clinical management consultation entails:

• Integrated, comprehensive, multidisciplinary subspecialty care
• Internationally recognized expertise in aortic and cardiac surgery
• Noninvasive evaluation of aortic and cardiac disease by echocardiography, MRI and ultrafast CT scanning
  

The Center for Marfan Syndrome is dedicated to continuing its leadership role in defining the genetic basis of these diseases, improving patient care, and serving as a community resource. Our multidisciplinary approach helps us maintain an innovative edge in treating this difficult condition.