Marfan's Syndrome and Related Disorders — More Tightly Connected Than We Thought

Abstract

Reviewing the entry on Marfan's syndrome in my medical school–era edition of Harrison's Principles of Internal Medicine, circa 1980, reminded me anew of the transformative potential of molecular medicine. In describing this striking genetic disorder, the textbook stated that the pathogenesis of Marfan's syndrome was unknown but classified it as a connective-tissue disorder, a type of disorder that “may affect any one of the numerous steps in the biosynthesis and the metabolism of [connective tissue] or the processes by which the macromolecules are physically organized and oriented to one another.”¹ Fast-forward two decades, and a scientific drama involving Marfan's syndrome . . .