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Pathophysiology of Cyanotic Heart Disease

Cyanotic heart disease is a congenital defect of the heart resulting in low blood oxygen levels. This can cause a person to turn bluish around the lips, fingernails, and toes. A heart defect creates changes in the way that blood flows into and around the heart and lungs. Some congenital heart defects cause problems that can be seen soon after birth while some are not discovered until adulthood.

  1. Causes

    • Cyanotic heart disease is thought to be caused by other conditions such as tetralogy of Fallot, transposition of the great vessels, Ebstein's anomaly, tricuspid atresia (a deformity of the tricuspid heart valve), total anomalous pulmonary venous return, pulmonic stenosis with an atrial or ventricular septal defect, truncus arteriosus, hypoplastic left heart syndrome, critical pulmonary valvular stenosis, coarctation of the aorta, interrupted aortic arch, or pulmonary valve atresia. Other causes of cyanotic heart disease are drug use, exposure to chemicals or infections during pregnancy.

    Symptoms

    • Cyanosis (bluish discoloration of the lips and extremities) is the most common symptom. Other symptoms include breathing problems in children and hypoxic spells, where they have difficulty getting oxygen. Infants often sweat and become tired while feeding and do not gain weight the way that they should.

    Diagnosis

    • A physical examination of a child will confirm the diagnosis of cyanotic heart disease. Children with the disease will sometimes have clubbed fingers. The doctor performing the exam will listen to the child's heart and lungs for sounds of crackling, abnormal heart sounds, or a heart murmur. Diagnosis might also include a chest x-ray, blood count, and echocardiogram.

    Treatment

    • Children born with cyanotic heart disease are often put on oxygen or on a breathing machine while staying in the hospital. Medications such as diuretics, digoxin, and antiarrythmics are sometimes prescribed. Other patients are given surgery where a permanent pacemaker is implanted to keep a regular heart rhythm.

    Complications

    • In some patients with congenital heart disease, complications develop. Such complications include heart failure, arrhythmia, stroke, impaired growth, and pulmonary hypertension.Some of these conditions cause sudden death.

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