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Congenital heart defects can present at different ages with clinical signs and symptoms ranging from cyanosis to cardiovascular collapse or congestive heart failure (CHF) depending on the anatomy and physiology of the lesion. Long-term survivors are at risk for a number of postoperative complications.

This chapter examines congenital heart defects and begins with a review of fetal and neonatal cardiac physiology, followed by a discussion of specific lesions and their diagnosis and management organized by clinical presentation. A brief discussion of pediatric murmurs follows, and this chapter concludes with a discussion of common surgical procedures for repairing congenital heart defects and associated complications.

Congenital heart defects occur in approximately 8 in 1000 births and range from benign to life-threatening. About 10% of congenital heart defects are associated with genetic syndromes such as trisomy 21, Turner syndrome, and Noonan syndrome, and heart defects may accompany other organ malformations in conditions such as VACTERL association (vertebral anomalies, anal atresia, cardiac anomalies, tracheoesophageal fistulas, esophageal atresia, renal and limb anomalies, and single umbilical artery). The remaining 90% of congenital heart defects result from isolated embryologic malformation or as yet undefined genetic lesions.

Congenital heart disease is usually classified based on physiology (presence or absence of cyanosis, with or without persistent fetal circulation) or on the nature of the anatomic defect (shunt, obstruction, transposition, or complex defect). Most textbooks separate cyanotic from acyanotic lesions. Cyanotic lesions result in mixing of deoxygenated and oxygenated blood or right-to-left shunting; cyanotic lesions include the “five Ts”: tetralogy of Fallot (TOF), tricuspid anomalies including tricuspid atresia (TA) and Ebstein anomaly, truncus arteriosus, total anomalous pulmonary venous return (TAPVR), and transposition of the great arteries (TGA). Acyanotic lesions include those that result in pulmonary overcirculation such as ventricular septal defect (VSD), atrial septal defect (ASD), patent ductus arteriosus (PDA), and atrioventricular (AV) canal, as well as those with restricted pulmonary or systemic blood flow such as pulmonary stenosis, aortic stenosis, and aortic coarctation.

It is often more useful to organize congenital heart disease by clinical presentation (Table 122A-1). Distinct clinical presentations are discussed further in later sections, including the pathophysiology, clinical features and treatment, and individual defects within each group. Discussion of murmurs and arrhythmias included in this chapter is limited to those related to congenital heart disease. Rhythm disturbances are discussed in greater detail in Chapter 122B, Pediatric Heart Disease: Acquired Heart Disease, and syncope and sudden death are discussed in Chapter 140, Syncope and Sudden Death in Children.

Table 122A-1 Clinical Presentations of Congenital Heart Disease

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