Marfan syndrome and related inherited disorders of connective tissue

Abstract

The phenotype of inherited disorders of connective tissue is extensive and may involve multiple body systems. In most cases, the clinical picture is that of a progressive chronic disease with mild to severe dermatological, osteo-articular, ocular, and cardiovascular manifestations. The spectrum of cardiovascular manifestations is broad and may range from a mild structural abnormality (e.g. mitral incompetence) to life-threatening complications (e.g. aortic dissection). This chapter provides a general guide to diagnosis and management of cardiovascular manifestations in Marfan syndrome and related inherited disorders of connective tissue. Major conditions are discussed in detail and the interested reader is advised to consult online resources for information on other less common inherited connective tissue disorders