The Johns Hopkins Comprehensive Marfan Center The Johns Hopkins Marfan Center stands ready to assist any patient (adult or child) suspected of having the Marfan Syndrome. The services available include: Initial evaluation of any patient suspected of having Marfan disease or other similar hereditary problem. This evaluation would include a thorough medical history and physical examination and when indicated, specific genetic testing. Referring physicians and new patients interested in genetic testing and/or clinical evaluation should contact our genetic counselors, Ms. Amanda Bergner or Ms. Gretchen Oswald. For Advanced genetic studies, referring physicians (and patients) should contact Dr. Harry Dietz, Director of The William S. Smilow Center for Marfan Syndrome Research. For patients with an established diagnosis of Marfan disease, our Johns Hopkins Marfan Center is prepared to evaluate all clinical aspects of the syndrome, be it cardiac, vascular, orthopedic or opthalmologic. The Dana and Albert "Cubby" Broccoli Center for Aortic Diseases is an internationally recognized center for the surgical management of patients with aortic disease, both Marfan and Non-Marfan. History of the Comprehensive Marfan Center It was in 1896 that a young Parisian pediatrician named Antoine Marfan published a paper describing a 5-year old girl with extremely long limbs. It then took more than 50 years for the syndrome with Dr. Marfan's name to be fully described. Dislocated lenses were first described in 1914 and the hereditary nature of the syndrome was described in 1931. In 1943, Dr. Helen Taussig, a pediatric cardiologist at The Johns Hopkins Hospital, published a paper describing two girls with three foregoing characteristics and, in addition, a large aneurysm of the aorta as it arose from the heart. In 1955 Johns Hopkins physician and geneticist, Dr. Victor McKusick, wrote the definitive medical paper describing the complete Marfan syndrome. Also at that time Dr. McKusick established a Marfan clinic at The Johns Hopkins Hospital and over the past half century he and his medical and genetic associates have seen several thousand individuals with the Marfan syndrome. It wasn't until the late 1960's that the definitive cardiovascular operation was developed for Marfan aneurysm involving the first portion of the aorta and aortic valve contained therein. This operation, developed by Dr. Hugh Bentall in the late 1960's in London, was first performed at Johns Hopkins in 1976 and to date, more than 275 operations of this type have been performed at our hospital on individuals with the Marfan syndrome. The genetics of the Marfan syndrome have been studied quite extensively at Johns Hopkins over the past 50 years. The early genetic studies were primarily by Dr. McKusick and in the last decade by Dr. Harry Dietz, Dr. McKusick and their associates. In addition to the clinical and research activities at the hospital related to the Marfan syndrome, a center for Hereditary Eye Diseases was established by Dr. Irene Maumenee in 1972, and a Marfan Orthopedic Center was established by Dr. Paul Sponseller in 1990.