1. Michael Silberbach, MD* 2. David Hannon, MD† 1. *Editorial Board 2. †East Carolina University, Greenville, NC 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. 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. 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 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 | Cafe 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, AV=atrioventricular valve, AVSD=atrioventricular septal defect, COA=coarctation, CVM=cardiovascular malformations, …