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
This chapter covers metabolic diseases and neuromuscular disorders. A number of inherited neuromuscular disorders may manifest with cardiac symptoms or signs. This chapter covers the most common muscular dystrophies with prominent cardiac involvement (including Duchenne, Becker, myotonic dystrophy, Emery–Dreifuss muscular dystrophy (EDMD) 1 and EDMD2, and limb girdle muscular dystrophy 2I along with clinical presentation, family history, and investigations. The chapter then goes on to general issues in inherited metabolic diseases, and their associated cardiac features. Clinical features, diagnosis, and treatment are described for each example.
This chapter gives an overview of congenital heart disease (CHD), including the genetics that underpins its presentations, general aspects of management, and the genetic consultation in CHD. Individual genetic investigations are outlined (chromosomal microarray and molecular genetics), and then referrals for genetic counselling. The chapter then goes on to outline individual congenital heart diseases, including total anomalous pulmonary venous connection (TAPVC), complete atrioventricular septal defect, tetralogy of Fallot, hypoplastic left heart syndrome, transposition of the great arteries, truncus arteriosus, supravalvar aortic stenosis, coarctation of the aorta, and interruption of the aortic arch. Finally, prenatal diagnosis and management are discussed.
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