American College of Cardiology

Types of Congenital Heart
Defects New Surgeries—New Hope
Diagnosing Heart Defects

Terri and her husband, Mike, cooed at their newborn daughter, Sasha, born on a sunny Tuesday in Baltimore in 1949. When Terri’s obstetrician, Dr. Libby, came in, they assumed it was to congratulate them, until they saw his face.

"I’m concerned about Sasha’s bluish coloring," Dr. Libby told Terri and Mike. "She has a heart murmur. I’d like to do an ECG—an electrocardiogram—and take a chest X-ray of Sasha to check the size and shape of her heart. And there's another test I’d like to order as well," Dr. Libby added. "It’s a relatively new diagnostic test called a cardiac catheterization. A heart specialist will insert a flexible tube into one of Sasha’s veins and then guide it to her heart to withdraw blood samples and measure pressures." Terri and Mike gave Dr. Libby the go-ahead to call in Dr. Thomas, a cardiovascular specialist, to do the cardiac catheterization.

Dr. Thomas’s diagnosis was tetralogy of Fallot, a type of congenital heart disease or heart defect that occurs as a fetus is developing.

"Tetralogy of Fallot," Dr. Thomas explained, "means that the artery from Sasha’s heart to her lungs is narrowed. The wall separating the lower left and right chambers of her heart has a hole in it. These abnormalities prevent oxygen-rich blood from circulating to the rest of her body and cause her blue coloring. We call it cyanosis or Œblue-baby’ disease." Tetralogy of Fallot, he told them, could cost Sasha her life.

"There is a new surgery we can do," Dr. Thomas continued. Five years earlier, Johns Hopkins surgeon Alfred Blalock and pediatric heart specialist Helen Taussig had developed a procedure to help infants with blue-baby disease. Blalock’s landmark operation in 1944 involved connecting the left arm artery to the artery that supplies blood to the lungs. "Had Sasha been born in 1939 instead of 1949," Dr. Thomas told Terri and Mike, "her prognosis would have been grim. Now, although the surgery is risky, she has a chance for a more active life."

"Let's give Sasha that chance," Terri said. Mike nodded in agreement.

Doctors operated, and Sasha’s skin took on a pinkish hue almost immediately. Sasha would survive being born a blue baby, even though eventually she would need more extensive surgery.

A diagnosis of "heart defect" is still a frightening one, particularly when it affects a fragile newborn, but surgical advances in the past 50 years have made correcting most congenital heart defects possible. Thanks to better diagnostic tests, new medications, and improved technology and surgical techniques, today’s patients who have congenital heart abnormalities face a much better outlook than patients who had the same problems 50 years ago, or even 15 years ago. Although congenital heart disease killed about 5,000 Americans in 1995, that marked a 24 percent drop in the death rate since 1985. Still, the challenge is formidable: The American Heart Association estimates that each year about 32,000 babies are born with some type of heart defect.

Types of Congenital Heart Defects
In addition to the tetralogy of Fallot, the two most common heart defects are—

• septal defects, or holes in the wall between the right and left chambers of the heart that let blood flow between the two sides.
• patent ductus arteriosus, or an open blood vessel between the aorta and pulmonary artery that doesn’t close up after birth as it’s supposed to. It causes too much blood flow to the lungs.

Other defects—and there are dozens of types—may involve missing, unconnected, or misplaced arteries; underdeveloped or missing valves; and narrowed or blocked blood vessels.

In most cases, the causes of congenital heart defects are unknown. Researchers suspect that heart defects can be caused by a genetic abnormality or that defects can result when the developing fetus is exposed to infections, toxic substances, or drugs.

New Surgeries—New Hope
Blalock’s groundbreaking "blue-baby" procedure in 1944 helped spur the dramatic new field of open heart surgery. Heart specialists, who had previously thought of the heart as too small or fragile for surgery, began to revise their thinking. Today, surgery remains the foundation for treating congenital heart disease, which includes a range of at least 35 types of defects.

"Now, tetralogy of Fallot can be completely repaired within the first few months of life in the vast majority of patients," reported Arthur Garson, Jr., MD, MPH, 1999-2000 American College of Cardiology president, professor of pediatrics (cardiology), senior vice president and dean for academic operations at Baylor College of Medicine in Houston. "After surgery these children grow and develop normally and have normal life spans."

Medication may help treat heart defects—diuretics rid the body of excess water and salt, and digoxin strengthens heart contractions—but, in many cases, the strain to the heart requires surgery to fix holes between the chambers, replace valves, or repair or reconnect major blood vessels. Sometimes, cardiac transplantation—replacing a defective heart with a healthy one from a donor who died of other causes—is the only solution.

Diagnosing Heart Defects
Typically, an infant’s heart defects are discovered during the pregnancy or just after birth. The first sign is usually a heart murmur or blue skin coloring. Sometimes the defect is minor—the heart is able to sustain a child’s needs—and problems arise only when the patient, older and larger, puts more demands on the heart.

"Even with the best diagnostic tests, some children do arrive at adulthood and are discovered to have congenital heart disease. The care for these patients, as well as those who underwent surgical repair as children, has spawned the new field of ‘adult congenital heart disease,’" said Dr. Garson. "Specialists in this area are being trained, and there is still much to be discovered as these patients grow older. But the future appears bright as these patients are living extremely productive lives."

Nigerian soccer star Nwankwo Kanu, 22, was a shining star in the world’s most-watched sport. After leading his nation’s team to a surprise gold medal triumph against Argentina at the Atlanta Olympics and then joining a professional team, Kanu was diagnosed with a congenital heart defect in August 1996.

A team doctor discovered that the soccer player had an enlarged heart—a sign that something was forcing the muscles to overwork. Everyone, including the 6-foot-5 forward from tiny Owerri, Nigeria, believed this was a career-ending heart ailment. Further tests confirmed that Kanu had a faulty valve, which opened normally but failed to close fully, causing a leak.

Kanu came to the United States and underwent four hours of open heart surgery to repair his heart valve. But no one could say if he’d ever return to top athletic condition.

In January 1997, Kanu ran six miles and had a normal heart response. By May, his Cleveland Clinic Foundation cardiologist, Dr. John Kramer, announced that Kanu "is stronger now than he was before the operation." By summer 1998, Kanu was back with Team Nigeria—playing in his first-ever World Cup.