Congenital heart disease encompasses a wide range of anomalies
that result from abnormal fetal development of the heart. Defects
can range from simple to complex. The age of presentation of these
defects depends primarily on the physiologic impact of the anomaly.
With improvements in ultrasound imaging, an increasing number of cardiac
anomalies are being identified on prenatal examination. After birth,
patients can present within minutes to hours with profound hypoxemia
or hemodynamic collapse or may present weeks to months later with
evidence of a new murmur or signs of congestive heart failure. Relatively
asymptomatic lesions can go undetected until children are school
age or adolescents.
Early and accurate diagnosis of congenital heart disease requires
careful identification of signs and symptoms of heart disease. Classification
of heart murmurs can be highly suggestive of underlying cardiac
anomalies. Early signs of heart disease include cyanosis, tachypnea, unequal
pulses, and failure to thrive. Key symptoms of congenital heart
disease in the patient’s history include feeding difficulties,
irritability, and frequent respiratory infections.
The initial workup for suspected congenital heart disease begins
with a focused history and physical examination. Standard studies
include a chest radiograph and electrocardiography. Chest radiography
can identify cardiomegaly, increased or decreased pulmonary markings,
aortic arch sidedness, and situs abnormalities (the heart located
in the mid- or right chest rather than the typical location in the
left chest). There are some cardiac defects with pathognomonic findings
on chest radiograph. Electrocardiography can identify rhythm disturbances,
axis deviation, atrial enlargement, and ventricular hypertrophy.
Two-dimensional color-flow Doppler echocardiography is usually the
first and often only noninvasive diagnostic test required to provide adequate
anatomic definition of the defect to allow for surgical planning.
Cardiac catheterization, cardiac magnetic resonance imaging (MRI),
and computed tomography (CT) angiography are used as adjunct diagnostic
tests when additional information on flow, pressure, resistance,
or anatomic detail is required.
For the majority of congenital heart defects, surgical correction
or catheter-based intervention is necessary for definitive treatment.
Certain defects such as atrial septal defects, ventricular septal defects
(VSDs), and patent ductus arteriosus (PDA) may resolve spontaneously over
the first several years of life. The remainder require intervention
when the risk of surgery is reasonable, when symptoms can no longer
be managed medically, and prior to the onset of irreversible complications.
Neonates presenting with ductal-dependent lesions require ductal
blood flow to maintain systemic or pulmonary perfusion. Ductal patency
is achieved with intravenous prostaglandin E1 therapy.
Supplemental oxygen is supplied as necessary for cyanosis; however,
newborns tolerate relative cyanosis (oxygen saturations > 70%)
quite well, so the use of oxygen is minimized. The remainder of
therapy is directed toward managing congestive heart failure symptoms
with diuretics, afterload reduction, and maximal caloric intake.
The care of congenital heart disease patients requires a collaborative
effort of a multidisciplinary team of cardiologists, surgeons, interventionalists,
echocardiographers, and radiologists. Careful timing and planning
of operative and catheter-based interventions along with highly skilled