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American Academy of Pediatrics
Article

Presentation of Congenital Heart Disease in the Neonate and Young Infant

Michael Silberbach and David Hannon
Pediatrics in Review April 2007, 28 (4) 123-131; DOI: https://doi.org/10.1542/pir.28-4-123
Michael Silberbach
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David Hannon
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  1. Michael Silberbach, MD*
  2. David Hannon, MD†
  1. *Editorial Board
  2. †East Carolina University, Greenville, NC

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.

Etiologic SyndromeFrequency of Cardiac Anomalies†Distinguishing Features
All (%)Distinctive or Most Common
Autosomal Dominant
    Adams-Oliver syndrome20Left-sided obstruction (eg, COA, parachute MVP), TOFScalp cutis aplasia, terminal transverse limb defects
    Alagille syndrome95(P)PS, TOF/TOF with PA, ASD, VSDBile duct paucity, chronic cholestasis, butterfly vertebrae, posterior embryotoxon
    Char syndrome60PDAAnomalies on fifth finger, supernumerary nipple
    Cornelia de Lange syndrome25VSD, ASD, PS, TOFUpper limb deficiency, GI anomalies
    Holt-Oram syndrome80ASD± other CVM, VSD, TA, TOF, PAPVC, conduction defectUpper limb malformations
    Neurofibromatosis2PSV, ASV, COA, HCMCafé au lait macules, optic glioma, scoliosis, pseudarthrosis, neurofibromas
    Noonan syndrome85PSV, ASD, AVSD partial, COA, HCMShort, webbed neck; pectus deformity; cryptorchidism
    Rubinstein-Taybi syndrome35PDA, ASD, VSD, left-sided obstruction (eg, COA, HLHS)Broad thumbs and great toes
    Williams syndrome60SVAS, PS, other left-sided obstructions (eg, ASV, MS, COA)Hypercalcemia, hypodontia, hypoplastic nails
Autosomal Recessive
    Ellis-van Creveld syndrome60AVSD, common atrium, ASD primumShort limbs, polydactyly, hypoplastic nails, dental anomalies
    Fryns syndrome50ASD, VSD, conotruncalDiaphragmatic hernia, distal digital hypoplasia
    Keutel syndrome70(P)PSShort digits, mixed hearing loss, cartilage calcification
    Smith-Lemli-Opitz syndrome45ASD, VSD, complete AVSD, TAPVCTwo- to three-toe syndactyly, cleft palate, lung anomalies, genital anomalies
X-linked Recessive
    Simpson-Golabi-Behmel syndrome25ASD; VSD; rare, variable cardiomyopathyMacrosomia, cleft palate, supernumerary nipples, hernias, hypospadias, poly/syndactyly
Suspected Gene Etiology
    Cardio-facio-cutaneous syndrome75ASD, HCMSparse, curly hair; low, rotated ears; hyperkeratosis
    Hall-Hittner syndrome (CHARGE association)80Conotruncal/arch, assorted CVMsColoboma, choanal atresia, genital anomalies, ear anomalies
    Costello syndrome60MVP, AV, thickening HCM, arrhythmia (atrial tachycardia)Skin/joint laxity, fine/curly hair, deep palm creases, ulnar deviation, papillomata
    PHACES syndrome100COA; IAA, A right; double, cervical aortic archPosterior fossa malformations, hemangiomas, eye anomalies
    Ritscher-Schinzel syndrome (3C)100TOF, DORV, AVSDPosterior fossa malformations, cleft palate, coloboma
  • ASD=atrial septal defect, ASV=aortic stenosis, valvar, AV=atrioventricular valve, AVSD=atrioventricular septal defect, COA=coarctation, CVM=cardiovascular malformations, …

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    Pediatrics in Review: 28 (4)
    Pediatrics in Review
    Vol. 28, Issue 4
    April 2007
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    Presentation of Congenital Heart Disease in the Neonate and Young Infant
    Michael Silberbach, David Hannon
    Pediatrics in Review Apr 2007, 28 (4) 123-131; DOI: 10.1542/pir.28-4-123

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    Presentation of Congenital Heart Disease in the Neonate and Young Infant
    Michael Silberbach, David Hannon
    Pediatrics in Review Apr 2007, 28 (4) 123-131; DOI: 10.1542/pir.28-4-123
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