A small molecule for a large disease

Abstract

Almost three decades ago, Victor McKusick and I reviewed Marfan's syndrome in the Journal and advised traditional medical and surgical approaches to management.1 The holy grail at that time was the cause of this autosomal dominant condition, based on the common presumption that understanding the cause would lead directly to effective therapy. In fact, life expectancy improved dramatically in subsequent years for all but the most severely affected patients, despite a lack of understanding of the underlying connective-tissue defect.2 Dissection of the aorta was and remains the most common cause of death. However, the evolution of ever more effective surgical . . .

Part of CIRS Nexus · Curated by Lauren Lowenstein, The Biotoxin Lady