Presentation of Congenital Heart Disease in the Neonate and Young Infant

Objectives

After completing this article, readers should be able to:

1. Describe the general principles of the cardiac examination of the newborn.

2. Name the four presentations of congenital heart disease in the newborn period.

3. Recognize the innocent heart murmurs that occur during infancy.

4. Identify the signs and symptoms of congestive heart failure in infants.

5. Describe the pathophysiology of the more common cyanotic heart defects.

Introduction

Significant congenital heart disease (CHD) may be diagnosed at virtually any age. Some conditions always are discovered in neonates; others rarely are identified during infancy. Prenatal ultrasonography may detect CHD before birth, but it is essential for primary care practitioners to assess any newborn who is suspected of having heart disease at the time of birth. This review considers CHDs that present during the newborn period or early infancy. The profound hemodynamic transitions that occur at the time of birth make the clinical presentation of heart disease a “moving target.” Although echocardiography often reveals the anatomic details of a given lesion, an understanding of underlying pathophysiologic principles can provide the clinician with the tools to anticipate and treat problems as they arise.

Cardiac Physical Examination: General Principles

Visual inspection of the infant may reveal cyanosis, but it is equally important to recognize dysmorphic features. Congenital heart lesions associated with some specific syndromes are summarized in Table 1, and the incidence of most common cardiac malformations is presented in Table 2. Assessment of the precordial activity is as important as cardiac auscultation. Palpation of the intensity and timing of the upper and lower extremity pulses as well as measurement of blood pressure in all four extremities are critical in the assessment of left heart obstructive disease. Auscultation should focus on the heart sounds as well as any murmurs.