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Learning Objectives

By the end of this chapter the student will be able to:

  • Discuss common clinical associations of congenital heart disease (CHD).

  • Understand the embryological basis for various CHDs.

  • Recognize the basic physiological variations due to CHD.

  • Classify CHD into acyanotic and cyanotic and further classify cyanotic heart disease based on the degree of pulmonary blood flow.

  • Distinguish clinical presentations of common acyanotic CHD with logical reasoning for a variation in their presentation and clinically differentiate between atrial septal defect (ASD), ventricular septal defect (VSD), and patent ductus arteriosus (PDA).

  • Distinguish between common cyanotic CHD: tetralogy of Fallot (ToF) physiology and other cyanotic heart diseases based on clinical presentation using clinical findings and common diagnostic tools such as electrocardiogram (ECG), chest x-ray (CXR), and echocardiography.

  • Indicate the approach to a cyanotic newborn and management principles.

  • List the steps in the treatment of CHD with congestive cardiac failure (CCF), and management of a cyanotic spell.

  • Enumerate the management options and surgical indications for ASD, VSD, PDA, ToF, and transposition of the great arteries (TGA); and provide a rationale and indications for the Fontan procedure.


Congenital heart disease (CHD) constitutes the spectrum of diseases characterized by heart defects arising from anomalous development of the cardiovascular system. All CHDs have aberrant cardiac development, though they may not be symptomatic or manifest as a disease at birth. Some may present for the first time in adulthood. Other defects may remain asymptomatic throughout life and then be diagnosed on routine examination or imaging.

A detailed description of CHD is beyond the scope of this chapter. However, knowledge regarding recognition of common CHDs and an approach to diagnosing and managing common presentations is absolutely essential for every physician.


The reported CHD prevalence at birth has increased substantially over the last century, reaching a stable estimate of 9 per 1000 live births in the last 15 years. This corresponds to 1.35 million newborns with CHD every year, representing a major global health burden. Significant geographical differences have been found in a recent meta-analysis. The highest reported total CHD birth prevalence was found in Asia (9.3 per 1000 live births) and the lowest in Africa (1.9 per 1000 live births). Europe had the second highest reported total CHD birth prevalence (8.2 per 1000 live births). The incidence of CHDs in the United States is 0.8% of all live births. The major defects include left-to-right shunts, such as ASD, VSD, and cyanotic CHD including ToF and TGA (Fig. 12.1).

Figure 12.1

Birth prevalence of CHD lesions. The estimated birth prevalence of CHD lesions from a systematic review of 114 publications between the years 1930-2009, compromising of a total population of 24,091,867 live births with CHD identified in 164,396 individuals. (Data from van der Linde D, Konings EE, Slager MA, Witsenburg M, Helbing WA, Takkenberg JJ, Roos-Hesselink JW. ...

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