The day he was born via cesarean section, Alex Koravos looked perfect to his parents, Jodi and Jason, who held him closely and then passed him around to their relatives gathered in the hospital room in Worcester, Massachusetts. After a while, Alex was taken to the nursery for shots and an initial assessment.
Jodi knew something was wrong when the doctor came back into her room with a stricken look. Alex seemed to have developed trouble breathing, the pediatrician said, and more worrisome, his nail beds appeared blue instead of the usual baby-pink. The doctor didn't offer any theories, but said Alex would need more testing. The next moments passed in a blur. "I'd done everything by the book. I couldn't believe this was happening to my baby, and I was so scared," says Jodi. As a social worker involved with babies of drug-addicted mothers, she'd seen firsthand how some women took serious risks during their pregnancy, and she had been vigilant about her own health during hers. An emergency team was called and little Alex was packed up for an ambulance ride to the newborn intensive care unit at a bigger hospital where I work as a pediatric cardiologist.
I met Alex when he arrived in the intensive care unit. I glided an ultrasound probe over his chest, and the problem was clear on the screen: A key valve within his heart had never formed, leading to a critical blockage of blood flow. In the womb, a mother's umbilical cord supplies oxygen-rich blood to a baby's heart, which in turn must pump the blood to his developing vital organs. But the moment the umbilical cord is cut at birth, a baby can no longer depend on his mother for oxygen. His first breath unfurls his lungs, and they fill with precious air. Immediately, his heart sends in blood to absorb the gas. From the lungs, blood returns to the heart, which then pumps the blood to his organs. Because this begins only after a baby leaves the womb, many serious heart problems aren't spotted until after birth.
Alex would have died in a few hours if his defect had gone undetected and untreated. We stabilized him with medications, and a team of surgeons rebuilt his heart. He required a second surgery four months later, and he's due for a third this summer. But nearly 18 months after his rocky entrance into the world, "Alex has hit all of his developmental milestones," says Jodi. "He's a miracle baby."
Alex's story illustrates the scary way that a baby's heart problem can come seemingly out of nowhere. But over the past few years, we've made great strides in fixing conditions that had been fatal not long ago. We're also starting to understand how defects can be prevented during pregnancy. All of these advances offer real hope for families affected by heart issues.
Why it happens
In the first few weeks of pregnancy, a microscopic tube of cells in a developing baby loops and twists like a balloon animal to form the heart. This delicate process goes wrong in roughly 40,000 births each year, resulting in a congenital heart defect (we don't have statistics on how many cases are detected in utero). Some are very mild, like mitral valve prolapse, and need no treatment, while other defects -- like Alex's -- can be serious.
The risk is higher when a pregnant woman has epilepsy, poorly controlled diabetes, or a relative with a heart defect, or if she's had repeated exposure to marijuana or organic solvents like paint thinner, or become infected with an illness such as flu or German measles. Certain medications, including some antibiotics and ibuprofen, can cause heart problems during gestation, which is why pregnant women should check with their doctor before taking any kind of drug. In some cases, a heart defect is a sign of a more complex underlying disorder in the baby, like Down syndrome or another genetic problem. Most of the time, however, we never figure out the precise cause.
Pinpointing a problem
Ideally, defects are spotted before birth. Pregnant women generally have a routine, full-anatomy ultrasound during the second trimester, which can identify some heart abnormalities. Unfortunately, studies show that approximately 70 percent of cases of congenital heart defects are missed, because even major problems can be hard to spot. Women who are at particularly high risk (like those who have hard-to-control diabetes or another child with a cardiac defect) get referred to a pediatric cardiologist about halfway through their pregnancy and have a more precise heart scan called a fetal echocardiogram.
Because it's so easy for heart defects to be missed before birth, in 2011 Kathleen Sebelius, the U.S. Secretary of Health and Human Services, recommended that all newborns be checked for critical congenital heart disease. The screening device most widely used is called a pulse oximeter. Right after birth, a small clip is placed on a baby's toe and palm. The clip painlessly measures the blood oxygen level, which is low in children with serious heart defects that require emergency treatment. Studies have shown that this practice saves lives, and some states, like New Jersey and Maryland, have already passed laws mandating the test. All parents should ask for it before leaving the hospital.
Despite proper fetal ultrasounds and the oxygen test at birth, however, some kinds of heart defects can still evade detection, and a doctor may suspect one later if a toddler has a heart murmur (see "Children and Heart Murmurs" on the next page). Thankfully, most murmurs are benign or suggest milder defects than those diagnosed during infancy, and sometimes need no treatment.