EDUCATION IN HEART

Congenital heart disease

Marfan syndrome: an update of genetics, medical and surgical management

Yskert von Kodolitsch¹, Peter N Robinson²

¹ Centre of Cardiology and Cardiovascular Surgery, Department of Cardiology and Angiology at the University Hospital Eppendorf, Hamburg, Germany
² Institute of Medical Genetics, Charité Universitätsmedizin, Humboldt University, Berlin, Germany

Correspondence to:
Correspondence to:
Dr Yskert von Kodolitsch
Centre of Cardiology and Cardiovascular Surgery, Department of Cardiology/Angiology, University Hospital Hamburg - Eppendorf, Hamburg, Martinistrasse 52, 20246 Hamburg, Germany; kodolitsch@uke.uni-hamburg.de

The first 150 words of the full text of this article appear below.

Marfan syndrome is a heritable disorder of the connective tissue with an estimated prevalence of 1 in 5000 individuals and no predilection for either sex. The syndrome is inherited as an autosomal dominant trait with complete penetrance but with phenotypic expression that varies considerably, both between and within families. Severe forms such as neonatal Marfan syndrome with <1 year survival usually result from de novo mutations, whereas about 75% of persons with classic Marfan syndrome have a positive family history. Affected individuals develop varying patterns of organ involvement including the cardiovascular, ocular, skeletal, and pulmonary system, the skin, and the dura. In classical Marfan syndrome, many manifestations present during puberty or later and severe complications rarely develop before adulthood. Such complications include severe scoliosis or pectus excavatum, spontaneous pneumothorax, retinal detachment or sight-threatening glaucoma resulting from dislocated lenses. Before the evolution of open heart surgery, however, Marfan . . . [Full text of this article]

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