Ductal-dependent lesions typically present with sudden-onset cardiogenic shock at 1 to 2 weeks of life and require immediate prostaglandin E1 (PGE1) infusion.
Congestive heart failure (CHF) typically presents in the first 6 months of infancy in children with left-to-right shunting lesions and requires immediate stabilization and medical management.
Aortic coarctation may present with hypertension. Blood pressure will be higher in the upper extremities compared with the lower extremities.
The number of survivors of cardiac surgery for congenital heart lesions is rapidly increasing, and emergency physicians should be aware of common complications, such as arrhythmias, residual or recurrent lesions, and endocarditis.
The term “congenital heart disease” (CHD) encompasses a wide variety of lesions. The emergency physician must not only recognize and manage previously undiagnosed CHD but also anticipate complications in a rapidly growing population of survivors of congenital heart surgery.
Congenital heart lesions occur in approximately 8 in 1000 live births in the United States, with lesions ranging from mild to severe; this number does not include common lesions such as bicuspid aortic valve (1%–2% of the population) or mitral valve prolapse.1 Overall, neither gender is predominant, but individual lesions may be more common in either males or females. The vast majority of patients will have isolated congenital heart lesions that are multifactorial in origin. Approximately 10% of cases can be attributed to genetic causes. Many genetic syndromes (e.g., the trisomies, connective tissue disorders) and teratogens (e.g., congenital rubella infection) are associated with a higher risk of specific congenital heart lesions (Table 40-1).1,2 Most patients present during infancy (Fig. 40-1).
Common presentations by age.
TABLE 40-1Selected Syndromes Associated with Congenital Heart Disease2,3 |Favorite Table|Download (.pdf) TABLE 40-1 Selected Syndromes Associated with Congenital Heart Disease2,3
|Syndrome ||Incidence ||Common Features ||Congenital Heart Lesions |
|Down syndrome (trisomy 21) ||1 in 1000 ||Decreased tone, epicanthal folds, hypothyroidism, esophageal, and duodenal atresia ||Atrial septal defect, ventricular septal defect |
|Klinefelter syndrome (47 XXY) || |
1 in 1000
|Gynecomastia, hypogonadism ||Mitral valve prolapse, left ventricular dysfunction |
|Noonan syndrome (AD or new mutation) ||1:1000 to 1:2500 ||Web neck, wide-set eyes, epicanthal folds, short stature, lymphedema, blood dyscrasias ||Pulmonic valve abnormalities, pulmonic stenosis, hypertrophic cardiomyopathy |
|Turner syndrome (XO syndrome) ||Girls only 1:2000 ||Web neck, lymphedema, lack of secondary sexual characteristics, musculoskeletal and renal defects ||Coarctation of the aorta, bicuspid aortic valve, secondary hypertension |
|DiGeorge syndrome (deletions, mutations) ||1:3000 ||Hypocalcemia, immunodeficiency, hypoparathyroidism, thymic aplasia ||Conotruncal anomalies, interrupted aortic arch, tetralogy of Fallot, truncus arteriosus, ventricular septal defect |
|Edwards syndrome (trisomy 18) || |
Girls >> Boys
1 in 3000
|Coloboma, pectus carinatum, clenched hands/crossed legs, renal disease ||Atrial septal defect, ventricular septal defect, patent ductus arteriosus |
|Marfan syndrome (fibrillin mutation)...|