Heart disease and connective tissue disorders

In recent years there has been a growing awareness of and focus on connective tissue diseases (CTDs) and associated cardiovascular pathology, particularly in children. These diseases are hereditary disorders of the connective tissues of the body. Many CTDs impose risk of structural heart defects, including patent ductus arteriosus, bicuspid aortic valve, coarctation of the aorta, and atrioventricular valve disease. Children with CTDs are prone to aortic dissection, aneurysm, and aortic rupture, and in fact, aortic dissection is the primary cause of morbidity and mortality in the most common CTDs. Advances in genetic analysis have had a significant impact on the identification and management of children with CTDs, providing a better understanding of their cause and phenotypes, improving management strategies, and offering insights into long-term prognosis. In this chapter we provide a description of the most common CTDs that affect the pediatric population and their associated cardiovascular pathology.