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A Patient's Guide to Congenital Heart Disease

Initially, the problem with Marino's heart – a too-narrow pulmonary valve and a hole between two chambers of the heart – escaped detection. He was five months old before the problem became clear as day. Rather than the pink bundle of joy his parents expected, "I was a blue baby," he says. "My parents say they would look at me and I'd be as blue as the part of the American flag with the stars."

Blue-tinged skin – a condition called cyanosis – is a sure sign of an oxygen deficit, and the darker the shade of blue, the more severe the deficiency. An oxygen deficiency typically means the heart isn't pumping enough oxygen-rich blood around the body. Alarmed, his parents took Marino to the hospital, where a cardiologist diagnosed the problem and prescribed emergency surgery.

"They fixed it (the valve), and I lived for 39 years seeing doctors off and on and having echocardiograms and EKGs," and thinking everything was fine. But it wasn't; a small hole remained and as he grew and aged, his heart changed, placing other stressors on the defect. Eventually, that had major health consequences for the charismatic radio personality whose health concerns became a storyline on the syndicated radio program.

"Last October, I was sitting in a restaurant in Pennsylvania with my girlfriend when my hands started to go numb. The whole right side of my body went numb." He realized he was having a stroke, but couldn't speak to let his alarmed companion know what was happening. "The best way I can describe it is as a lightbulb in your brain popping. There's that noise before it pops," he says, and the 15 seconds or so of numbness and being unable to communicate was terrifying.

"Luckily it caused no permanent damage," but he immediately sought help. He landed at New York-Presbyterian/Columbia University Irving Medical Center where he was introduced to a cardiologist who specializes in treating adults with congenital heart disease. "I didn't even know there were doctors that specialize in patients like myself who were born with this condition and had corrective surgery in their youth. They grow up and their heart changes – there needs to be a doctor to know what to look for. It just shocked me," he says, and he wants other people to know that there are doctors who specialize in adults who had congenital heart defects as a child.

It's important for people born with CHD to keep tabs on their heart health throughout their lives because as we age, the heart changes. Repairs made in infancy can fail, or new problems can develop. In some cases – such as Marino's – blood clots can form in or around the heart if it's not functioning properly, and these can lead to an embolism or stroke, both very serious and potentially deadly events.

"If I had been seeing the right doctor all along, I may not have had a stroke or had the surgery sooner to fix the hole in my heart," Marino says, and he might have avoided the stroke altogether, which he says would have been a better option. "Don't ever have a stroke. I'm 39 and I've done some crazy things in my life. But that was the scariest moment I've ever experienced," he says.

A Common Problem

Marino's story is unfortunately not as unusual as one might hope. About 1 percent of all babies born in the U.S. are born with a congenital heart defect, says Dr. Emile Bacha, chief of cardiac surgery at New York-Presbyterian/Columbia University Irving Medical Centerand an expert in congenital heart disease in children and adults. That estimate translates to about 40,000 births each year, or about 1 in 100 babies, the March of Dimes reports. The Centers for Disease Control and Prevention reports that congenital heart defects are the most common type of birth disorder in the U.S.

CHD is fundamentally different from the condition that generally comes to mind when we think about heart disease. "It's basically a condition whereby babies are born with a heart defect, as opposed to the more common acquired heart disease that you get later in life from arteriolosclerosis," or a buildup of plaque inside the arteries that's the No. 1 killer in America, Bacha says. Instead, CHD is "something that you're born with," and may need to be corrected immediately after birth.

Forms of Congenital Heart Disease

All told, "there's a wide range of about 100-plus different malformations" of the heart and coronary arteries that can occur in babies, Bacha says. "It's one of the biggest varieties of disease in a single organ, and each one has its own anatomy." Dr. Curt Daniels, director of the Adult Congenital Heart Disease Program at The Ohio State University Wexner Medical Center and Nationwide Children's Hospital, says this variety of abnormalities can pose challenges to effective diagnosis and treatment. "It's not like cystic fibrosis, which is one defined disease. CHD comprises about 100 different things patients can have, and it's very unique and complex anatomy."

These abnormalities can include leaky valves, underdevelopment of certain components of the heart, electrical problems that affect how the heart beats, incorrect positioning of major blood vessels or other elements or a combination of several defects. Some of the most common forms of CHD include:

  • Ventricular septal defect. The American Heart Association reports that these holes between the lower chambers of the heart account for about 20 percent of all cases of CHD. They may be diagnosed based on the presence of a heart murmur (an abnormal sound in the heart). The larger the hole, the greater the chances of developing congestive heart failure.

  • Atrial septal defect. This is a hole between the upper two chambers of the heart. There may be no symptoms associated with this defect, and sometimes these holes repair themselves spontaneously as the baby grows and develops. Dr. Steven M. Goldberg, head of cardiology at ProHEALTH Care in New York, says some patients can go "most of a lifetime without it causing symptoms," and this defect may not be "found until we're older." Surgery to fix this problem may involve patching the hole whenever it is found. "Bigger holes will require a patch to be surgically placed," he says.

  • Tetralogy of Fallot. This defect is often diagnosed while the fetus is in-utero, and features an abnormal orientation of the ventricular septum, or the wall that separates two lower chambers of the heart. It may also feature a hole between the two lower heart chambers. It causes obstructed blood flow and always requires surgical intervention, which is usually carried out when the baby reaches about 6 months of age.

  • Single ventricle defects. This wide variety of anomalies can lead to only one ventricle working appropriately in the heart. This leads to a lack of oxygen being moved throughout the body, or cyanosis. Surgery is always required to repair this defect.

  • Pulmonary valve stenosis. This defect obstructs blood flow from the right ventricle to the lungs. It can be caused by a valve that's too small or another malformation of the valve. A heart murmur typically announces its presence, and depending on the severity and location of the obstruction, surgery may be required.

  • Patent ductus arteriosus. PDA is a condition where the ductus arteriosus – a normal artery that grows between the aortic arch and the pulmonary artery in the fetus to divert blood away from the lungs as the baby is developing – doesn't close properly after the baby is born. Most of the time, the ductus arteriosus closes within the first few days after birth, the AHA reports, but in some children, the connection doesn't fully close and that can lead to excess blood flow to the lungs, resulting in damage to arteries in the lungs. Premature babies are more susceptible to this increased flow. Surgery or medication may be needed to correct the problem.

  • Dextro-transposition of the great arteries. This complex defect accounts for about 10 percent of all cases of CHD. In this situation, the two main arteries that leave the heart and carry blood to the lungs and beyond switch position. This misplacement obstructs normal blood flow and reduces oxygen levels, leading to cyanosis. It typically requires surgery to correct.

  • Aortic valve stenosis. This condition features an aortic valve that's too small or is fused. This can obstruct blood flow as it leaves the heart, leading to increased stress on the left ventricle pumping chamber. This can lead to a thickening of the heart muscle, which may lead to heart failure.

Signs, Symptoms and Diagnosis of CHD

Although some cases of CHD may escape detection, others are found long before the baby arrives. "Nowadays in the U.S., most pregnant women receiving good prenatal careget a screening ultrasound that often picks up at least a hint of heart problems if there are any," Bacha says. If a problem is noted, the woman is typically sent for "a more sophisticated, in-depth ultrasound or echocardiogram that will usually show you whether there is a significant congenital heart defect."

Daniels says that if the mother has certain conditions, such as diabetes or congenital heart disease, that may lead to a closer inspection of the fetal heart while still in-utero. "Those can lead to a fetal echocardiogram done at 20 to 24 weeks," and depending on what turns up, that may help clinicians "better treat the baby after birth."

Still, these detection procedures don't catch everything. "The majority of cases are found at the time of delivery," Daniels says. And even if evidence of CHD is pinpointed prior to birth, there's not usually a whole lot that can be done about a defect prior to birth. "There are some centers, ours being one of them, where in very specialized cases we can do in-utero interventions to try to minimize the impact" of CHD, Bacha says. "We can't cure the problem in-utero, but we can try to minimize the impact in rare cases," he says. Still, the advance warning of a potential problem can be a helpful piece of information for many moms-to-be in planning the next steps and preparing for a baby who will need surgery soon after birth.

If a baby is born and appears blue either immediately after birth or within a few days or months, that likely indicates a problem with oxygen saturation levels. Cyanosis, no matter when it occurs, should always be evaluated by a doctor. Bacha says checking oxygen saturation levels in newborns is now a routine part of delivery and post-natal care at virtually every hospital. This simple procedure is performed using a noninvasive pulse oximeter monitor placed on a finger. The delivery team should also check for heart murmurs immediately after the baby is born, as any unusual rhythms or sounds in the heart could be a sign that something is wrong.

Some cases may not be apparent before or soon after birth and may only show up later in life. These "silent" cases of CHD may turn up in late adulthood, and often make themselves known via "warning signs of chest pain with exertion," Daniels says. A full cardiac workup may lead to the discovery of a structural abnormality rather than the more common condition of arteriosclerosis.

Treatment for CHD

Treatment for CHD will depend entirely on the specific malformation and which problems it's causing. "What you do is very much dependent on the anatomy and the diagnosis that the baby carries," Bacha says. "Most require surgery because they are mechanical or structural problems and you can't give a pill to correct it. You have to close it and that requires open heart surgery." But some defects may resolve on their own in time and simply require close observation.

Whenever it becomes apparent, a congenital heart defect should always be evaluated by a cardiologist. If it's spotted in infancy, a pediatric cardiologist should be well positioned to help. If it turns up later in life, a cardiologist who specializes in CHD in adults may be best suited to help you with these sorts of structural problems with the heart.

While not all cases of CHD require medical intervention, surgery is often part of the treatment protocol when a heart defect is detected. And even if a defect is repaired in childhood, people born with a congenital heart defect should continue seeing a cardiologist – preferably one who specializes in CHD – regularly for the rest of their lives. Over time, the heart changes, patches can fail or wear out or other problems may develop. "These fixes may not be a cure for a lifetime, and the patient may need active management," for the rest of their lives, Goldberg says.

An Improving Science

Recent breakthroughs in cardiac surgery procedures are signaling improved outlooks for most anyone born with CHD. Goldberg says a new procedure called transcatheter aortic valve replacement, or TAVR for short, uses a catheter inserted through the groin to replace a problematic heart valve in some patients without the need for open heart surgery. This less invasive approach features less trauma and faster recovery times.

Bacha says survival rates from surgery for CHD "are surprisingly high" these days. "The field of pediatric surgery has advanced enormously over the past two decades. It's incredible the progress that has been made." He says the overall survival rate for children undergoing open heart surgery for CHD is about 98 percent at his hospital, which includes a population of "very sick babies," who are referred from other centers that may not be equipped to handle their complex cases.

These incredible advances are a great example of improved precision medicine, Marino says. "An infant's heart is maybe the size of your thumb," and the delicate surgical procedures and techniques used to repair problems on such a tiny organ have only improved in the past few decades as surgical precision has increased. "I don't even know how you can operate on something that small," he says.

However, this improvement in outcomes can cause additional problems down the line for some patients. As surgery to correct heart problems in children became safer, more effective and more widely available in the 1970s and 1980s, that created a generation of children who would grow up to be just like Marino. Even with a sturdy repair, over time, a defect may reappear or other problems may develop. This is why many patients who had congenital heart defects that were repaired in infancy require additional surgery later in life. Similarly, an uncorrected defect may "become larger and whatever problem is there is going to be magnified," Marino says.

To help cope with this growing population of patients aging with CHD, a whole new field of cardiac medicine has been developed aimed at helping adults with CHD, Daniels says. "The biggest change in the last few decades has been the large number of children surviving to adulthood. We now have about 90 percent of these children surviving versus about 70 percent 40 years ago. And it's estimated that about 1.5 million adults have CHD and about a million children have CHD, so there's now more adults than kids with it and we need more specialists to take care of them," he says.

Like Marino was, many of these patients aren't aware of the potential complications they may encounter later in life and may not be seeing the right doctor. Marino says when he did see a cardiologist in adulthood, routine visits turned up no problems because he was young and fit, and these doctors may not have been looking for the small warning signs of a CHD problem. Daniels says this is a common issue for adult CHD patients. "Many patients who'd had this surgery come back into care when they're sick and need emergent intervention, rather than having regular visits." So, his message is: If you have CHD, even if you had corrective surgery, "you are not cured. There are rarely any circumstances where there's no risk, and you need to see that specialist for evaluation" regularly. Staying on top of your heart health and seeing a specialist who knows what to look for can help you stay healthier longer and may help you delay additional surgery.

What Else You Should Know About Congenital Heart Disease

Bacha says that a growing awareness of CHD is helping, but that many people still don't know it's a possible problem. "A lot of people don't know anything about it, and they don't even know a child can have a heart defect," so it's important for pregnant women to receive adequate prenatal care and talk about potential issues with their doctors.

He also notes that while survival rates have improved vastly, not every outcome is positive. But your baby can still have a vastly positive impact on the world if you consider organ donation. "I think it's always a tragedy when the child dies, but if you can donate the organs," that can help another child survive another condition. Finding suitable donor organs for babies and children is incredibly difficult. But some good can come from the tragedy of a lost child through organ donation.

Lastly, Bach says it's important to seek out the right help for CHD if it is detected in your child, and sometimes that means forgoing the local hospital in favor of more specialized and qualified help. "The problem with congenital heart disease is there's a wide variety of diagnoses. If you're not in a large center, you're not going to see these things and you don't want to be dealing with a surgeon who's seeing something for the first time." He says considering the volume of patients that a medical center treats can be a good indicator of quality. He recommends finding a major metropolitan children's hospital or specialized pediatric heart surgery center to address your needs because practice makes perfect.


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