Cyanotic heart disease is a congenital condition that impairs blood flow to and from the lungs. As a result, blood that gets pumped through the body contains an insufficient amount of oxygen. The most obvious characteristic of cyanotic heart disease is a bluish tint to the lips and skin, a clear sign that there is not enough oxygen in the bloodstream. Many cases of cyanotic heart disease are mild and can be treated with surgery and medications. More severe problems may necessitate a heart transplant to prevent fatal complications.
There are many types of cyanotic heart disease, categorized by the size and location of specific defects. The most common form of the disorder is known as tetralogy of Fallot, a condition comprised of four distinct problems in the heart. Tetralogy of Fallot involves a blockage of the pulmonary valve that normally carries oxygen-poor blood from the heart to the lungs so it can be replenished. Oxygen supply is further reduced because a hole in the heart, called a septal defect, allows used blood to directly reenter the bloodstream. Most other types of cyanotic heart disease involve similar heart defects that impair the re-oxygenation of blood.
In mild cases of cyanotic heart disease, only a small amount of blood never reaches the lungs. The nose and lips of an infant who is born with mild cyanotic heart disease might be slightly blue in color, and he or she may have difficulty taking deep breaths. Symptoms tend to lessen as the baby gets older, though a young child with heart disease may not be able to engage in regular activities without becoming overly fatigued. The condition sometimes leads to a delay in mental and physical development as well.
A doctor can usually diagnose cyanotic heart disease by analyzing the results of chest x-rays, computerized tomography scans, echocardiograms, and blood tests. Most patients are referred to cardiac surgeons who can clear blockages and mend septal defects. A surgeon may also replace damaged valves or arteries with artificial stents to ensure proper blood flow. Patients typically need to take prescription medications and receive regular checkups for many years following surgery to make sure heart problems do not persist.
Severe cyanotic heart disease involves a major defect in which very little or no blood makes it to the lungs. An infant with this condition may be unresponsive and have very shallow breathing at birth. Emergency treatment measures must be taken to save a baby's life in the case of a major defect. The patient is put on a mechanical respirator, given a feeding tube, and immediately prepared for surgery. Skilled surgeons can try to repair damage to affected areas or replace the entire heart with an artificial or donor organ.