Clinical presentation of the atrial septal defect in adults Paul Clift and Sara Thorne
INTRODUCTION The early cardiologists were much perplexed with the diagnosis and clinical presentation of an atrial septal defect. The appearance of the patient was given a prominence not seen today. A typical patient would have ‘a gracile habitus, arachnodactyly, high arched palate, and praecordial bulge’,1 whereas modern cardiologists would associate the above as signs of Marfan’s disease. The predominant presenting feature then as now is breathlessness on exertion but this occurs later in adult life commonly in the third decade and is inconsistent and nonspecific. Many patients are asymptomatic and their defects are picked up on routine examination, either because of clinical demonstration of a murmur with associated features of right heart volume load, or from chest radiograph (CXR) appearances. This text will discuss briefly the relevant anatomy and embryology, also the ways in which atrial septal defects (ASD) present, and the physical signs and relevant clinical investigations used in making the diagnosis.