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

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Abstract
Today, management by expert centres extends the life expectancy of Marfan patients to over 60 years of age.1 Such centres usually have a generalist with broad experience with Marfan patients to coordinate an interdisciplinary team comprising cardiologists, heart surgeons, orthopaedic surgeons, ophthalmologists, paediatricians, geneticists and psychologists. The principles for managing cardiovascular manifestations have remained remarkably unchanged over the past 25 years and Marfan patients have been shown to adhere excellently to medication and physical activity guidelines. However, the classical standards have currently been challenged by two major developments. First, with the increasing life expectancy of Marfan patients there is a shift in the spectrum of medical problems. Second, recent molecular, surgical and clinical research has yielded profound new insights into the pathogenesis and treatment options of inherited connective tissue disorders. This article …