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(Pediatrics in Review. 2007;28:123-131.)
© 2007 American Academy of Pediatrics

Presentation of Congenital Heart Disease in the Neonate and Young Infant

Michael Silberbach, MD^*
David Hannon, MD

^* Editorial Board
East Carolina University, Greenville, NC

The first 300 words of the full text of this article appear below.

	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.

Table 1. Mendelian Gene Syndromes Associated with Congenital Heart Anomalies^*

Etiologic Syndrome Frequency of Cardiac Anomalies Distinguishing Features All (%) Distinctive or Most Common Autosomal Dominant     Adams-Oliver syndrome 20 Left-sided obstruction (eg, COA, parachute MVP), TOF Scalp cutis aplasia, terminal transverse limb defects     Alagille syndrome 95 (P)PS, TOF/TOF with PA, ASD, VSD Bile duct paucity, chronic cholestasis, butterfly vertebrae, posterior embryotoxon     Char syndrome 60 PDA Anomalies on fifth finger, supernumerary nipple     Cornelia de Lange syndrome 25 VSD, ASD, PS, TOF Upper limb deficiency, GI anomalies     Holt-Oram syndrome 80 ASD± other CVM, VSD, TA, TOF, PAPVC, conduction defect Upper limb malformations     Neurofibromatosis 2 PSV, ASV, COA, HCM Café au lait macules, optic glioma, scoliosis, pseudarthrosis, neurofibromas     Noonan syndrome 85 PSV, ASD, AVSD partial, COA, HCM Short, webbed neck; pectus deformity; cryptorchidism     Rubinstein-Taybi syndrome 35 PDA, ASD, VSD, left-sided obstruction (eg, COA, HLHS) Broad thumbs and great toes     Williams syndrome 60 SVAS, PS, other left-sided obstructions (eg, ASV, MS, COA) Hypercalcemia, hypodontia, hypoplastic nails Autosomal Recessive     Ellis-van Creveld syndrome 60 AVSD, common atrium, ASD primum Short limbs, polydactyly, hypoplastic nails, dental anomalies     Fryns syndrome 50 ASD, VSD, conotruncal Diaphragmatic hernia, distal digital hypoplasia     Keutel syndrome 70 (P)PS Short digits, mixed hearing loss, cartilage calcification     Smith-Lemli-Opitz syndrome 45 ASD, VSD, complete AVSD, TAPVC Two- to three-toe syndactyly, cleft palate, lung anomalies, genital anomalies X-linked Recessive     Simpson-Golabi-Behmel syndrome 25 ASD; VSD; rare, variable cardiomyopathy Macrosomia, cleft palate, supernumerary nipples, hernias, hypospadias, poly/syndactyly Suspected Gene Etiology     Cardio-facio-cutaneous syndrome 75 ASD, HCM Sparse, curly hair; low, rotated ears; hyperkeratosis     Hall-Hittner syndrome (CHARGE association) 80 Conotruncal/arch, assorted CVMs Coloboma, choanal atresia, genital anomalies, ear anomalies     Costello syndrome 60 MVP, AV, thickening HCM, arrhythmia (atrial tachycardia) Skin/joint laxity, fine/curly hair, deep palm creases, ulnar deviation, papillomata     PHACES syndrome 100 COA; IAA, A right; double, cervical aortic arch Posterior fossa malformations, hemangiomas, eye anomalies     Ritscher-Schinzel syndrome (3C) 100 TOF, DORV, AVSD Posterior fossa malformations, cleft palate, coloboma

ASD=atrial septal defect, ASV=aortic stenosis, valvar, . . . [Full Text of this Article]