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DIAGNOSIS

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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. After birth, patients can present within minutes to hours with profound hypoxemia or hemodynamic collapse. Others 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. With current ultrasound imaging, many cardiac anomalies are identified on prenatal examination.

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Early and accurate diagnosis of congenital heart disease requires careful identification of signs and symptoms of heart disease. The initial workup begins with a focused history and physical examination. 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.

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Standard diagnostic studies include a chest radiograph (CXR) and electrocardiography (EKG). Some cardiac defects have pathognomonic findings on CXR. Other anomalies may be suspected based on heart size, increased or decreased pulmonary markings, aortic arch sidedness, or situs abnormalities (the heart located in the mid- or right chest rather than the typical location in the left chest). EKG can identify rhythm disturbances, axis deviation, atrial enlargement, and ventricular hypertrophy. Transthoracic echocardiography is often the only diagnostic test needed to provide the anatomic detail required for surgical planning. Cardiac catheterization, cardiac magnetic resonance imaging (cMRI), and computed tomography angiography (CTA) are used as adjunct diagnostic tests when additional information on flow, pressure, resistance, or anatomic detail is required.

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PREOPERATIVE MANAGEMENT

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The care of congenital heart disease patients requires a collaborative effort of a multidisciplinary team of cardiologists, surgeons, interventionalists, echocardiographers, and radiologists. For the majority of congenital heart defects, surgical correction or catheter-based intervention is necessary for definitive treatment. Careful timing and planning of operative and catheter-based interventions along with highly skilled preoperative and postoperative care are essential to a successful outcome.

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Certain defects such as atrial septal defects (ASDs), ventricular septal defects (VSDs), and patent ductus arteriosus (PDA) may resolve spontaneously over the first several years of life. The remaining defects require intervention when the risk of surgery is reasonable, when symptoms can no longer be managed medically, and/or prior to the onset of irreversible complications.

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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 only as necessary for cyanosis as newborns tolerate relative cyanosis (oxygen saturations > 70%) quite well. The remainder of therapy is directed toward managing congestive heart failure symptoms with diuretics, afterload reduction, and maximal caloric intake.

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