Almost three decades ago, Victor McKusick and I reviewed Marfan'ssyndrome in the Journal and advised traditional medical andsurgical approaches to management.1 The holy grail at that timewas the cause of this autosomal dominant condition, based onthe common presumption that understanding the cause would leaddirectly to effective therapy. In fact, life expectancy improveddramatically in subsequent years for all but the most severelyaffected patients, despite a lack of understanding of the underlyingconnective-tissue defect.2 Dissection of the aorta was and remainsthe most common cause of death. However, the evolution of evermore effective surgical . . . [Full Text of this Article]
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From the Center for the Integration of Genetic Healthcare Technologies, Departments of Medicine and Genetics, University of Pennsylvania School of Medicine, Philadelphia.
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