Nearly 40 years ago when Lis Dreizen’s daughter Olivia was born with a congenital heart defect, doctors were grim about her chances to live.
“I would cry simply looking at Olivia, and it was very hard to know what to do,” Dreizen says. Olivia needed open heart surgery, but without the internet, “we couldn’t look anything up about our baby’s condition, hospitals or prognosis, and there was no access to any other people who had children with heart defects,” Dreizen says. “I was continually waiting for one parent with a child who actually survived heart surgery to fall from the sky! Then someone contacted me, literally ‘the sister of a friend of a friend that my dad once worked with.’ All I needed to know was that just one child got through open heart surgery and lived. That’s how little I had to go on, and I clung to that story with my fingernails.”
Eight-month-old Olivia made it through a five-hour surgery requiring a two-week hospital stay. Now a 39-year-old Long Island mom of two and CEO of Fresh Starts Registry, Olivia Dreizen Howell knows the facts of her condition by heart (pun intended).
“I was diagnosed almost immediately after I was born. The doctors heard a murmur and did further testing,” she says. “I had a complete AV (atrioventricular) canal defect, so I had holes in my heart chambers that had to be closed, and they had to restructure the aortic and mitral valves.”
Since Howell’s surgery, huge advancements have been made in treating congenital heart defects, also known as congenital heart disease (CHD).
“With the tremendous surgical, medical and technological advances that have occurred over the past 80 years, there is a vast array of treatment options for babies with CHD,” says Dr. Peter Ermis, medical director of the Adult Congenital Heart Disease Program at Texas Children’s Hospital in Houston. But the condition still requires lifelong monitoring. “For almost all children treated for CHD, we anticipate problems occurring later during their life. This is why lifelong follow up by a CHD expert is critical,” Ermis says.
You’re never really “over” CHD because as we age, the heart changes. Repairs made in infancy can weaken, or new problems can develop that can lead to serious cardiac events if they aren’t taken care of. Here’s what to know about handling CHD through your, or your child’s, life.
[See: Best Exercises for Heart Disease Patients.]
How Common Is CHD?
CHD is actually common. According to the American Academy of Pediatrics:
— Congenital heart defects are the most common type of birth defects in the U.S.
— About 1%, or 1 in 100 babies, 40,000 per year, are born with CHD.
— Over 85% of babies with CHD now live to adulthood.
— No lifelong tracking system exists, so the best estimate is that 2.4 million people, including 1.4 adults, live with CHD.
These stats are extremely encouraging.
“Unlike 50 years ago, today survival to adulthood is now the rule for all but the most extremely complex CHD diagnoses,” Ermis says. Still, according to the Centers for Disease Control and Prevention, one in four babies with CHD have a complex heart defect, and 25% of them don’t survive to their first birthday.
What’s the difference between regular heart disease and CHD?
CHD is fundamentally different from the condition that generally comes to mind when we think about heart disease.
When it comes to heart disease vs. congenital heart disease, “you’re born with congenital heart disease. It’s structural, which means there’s something wrong with the way the heart was formed,” says Dr. Ali Zaidi, director of the Adult Congenital Heart Disease Center and director of Pediatrics to Adult Transition of Care Program for the Mount Sinai Health System in New York. “In regular heart disease, the heart is formed normally but you acquire disease, which means as you get older our habits — smoking, being overweight, high cholesterol, drinking too much alcohol — lead to heart attack or cardiomyopathy (disease of the heart muscle).”
[SEE: Best Children’s Hospitals for Cardiology and Heart Surgery.]
Congenital heart disease
— Structural problem
— Develops before birth
Acquired heart disease
— Affects older people with normally formed hearts
— Can develop due to unhealthy lifestyles
What Causes CHD?
Most of the time, doctors don’t know.
“Although some CHD may be related to known genetic mutations, the majority of the time there is no known cause for most forms of CHD,” says Dr. Curt Daniels, director of the Adolescent and Adult Congenital Heart Disease Program and professor of Clinical Internal Medicine and Pediatrics at The Ohio State University Wexner Medical Center.
Less than 20% of congenital heart defects come from a known genetic condition. These structural problems begin very early in pregnancy.
“As the heart develops in early gestation, there may be changes in how the blood vessels, valves or heart chambers develop that leads to CHD,” Daniels says.
Pregnant women should avoid drinking and smoking, and talk with their doctor about their medical conditions and medications, as well as any family history of CHD. But for the most part, there’s nothing that could have been done to prevent most CHDs.
“For most babies born with congenital heart disease, mom or dad have no risk factors. It’s just the luck of the draw, and it’s purely because of the way the heart is formed,” Zaidi says. “We often tell women it’s nothing you did.”
What Are the Different Types of CHD?
The heart is very complex, so CHD takes many different forms.
“Disease spectrum can go from mild to really complex,” Zaidi says. Abnormalities include leaky valves, underdevelopment of certain parts, electrical problems affecting the heartbeat, incorrect positioning of blood vessels or a combination.
Common forms of congenital heart disease include:
— Atrial and ventricular septal defects: These are the most common CHDs. Holes between the heart’s lower chambers are a form of congenital heart disease (ventricular septal defect, or VSD) accounting for 20% of CHDs, the American Heart Association reports. Atrial septal defect (ASD) is a hole in heart between the upper two chambers. “Small holes could be mild and sometimes close on their own. Or they can need an intervention,” Zaidi says, if babies aren’t getting enough oxygen. “Sometimes these babies are born completely blue, what we call cyanotic or ‘blue babies.'”
— Pulmonary valve stenosis: A narrowed or malformed valve obstructs blood flow to the lung arteries. A heart murmur typically announces its presence, and surgery may be required.
— Tetralogy of Fallot: This serious CHD, often diagnosed prenatally, combines four defects: VSD, pulmonary stenosis, thickening of the right ventricle and a misplaced aorta. It causes obstructed blood flow and requires surgical intervention.
— Single ventricle defects: These complex anomalies can lead to only one working ventricle, causing a lack of oxygen and requiring surgery. “Large centers such as Texas Children’s Hospital see a larger percentage of patients with complex CHD, rather than simple CHD,” Ermis says. “Within our practice, two of the most common CHD diagnoses are tetralogy of Fallot and single ventricle. These are both very complex diagnoses with many long-term complications, and a very high likelihood of requiring multiple cardiac interventions over the course of a patient’s lifetime.”
— Patent ductus arteriosis: With PDA, a hole called the ductus arteriosis, which diverts blood circulation from the lungs in a fetus, doesn’t close properly after birth, causing excess blood flow to the lung arteries. Premature babies are more susceptible, and medications or surgery are needed.
— d-Transposition of the great arteries: This defect, in which two main arteries switch position, accounts for 10% of CHDs. This is a “greatly complex” defect, says Ermis, which obstructs blood flow, reduces oxygen and typically requires surgery. Less common is l-transposition of the great arteries, which is where the two ventricles are switched.
— Aortic valve stenosis: A fused or too small aortic valve can’t open and close properly, obstructing blood flow and leading to stress on the left ventricle. This can cause thickening of the heart muscle, eventually causing congenital heart failure.
— Ebstein’s disease: Also called Ebstein’s anomaly, this malformed heart valve between the upper and lower right chambers doesn’t close properly, so blood sometimes flows in the wrong direction, backing up and enlarging the upper chamber.
How Are CHDs Diagnosed?
With advancements in prenatal care and diagnostic imagining — such as prenatal ultrasounds and fetal echocardiograms — doctors now find many cases of congenital heart disease before birth.
If a heart problem is suspected during a regular ultrasound or screening, your doctor may order a fetal echocardiogram. Once the CHD is confirmed, plans are made for treatment and surgery after birth.
Sometimes, CHDs aren’t found until shortly after birth.
Early Signs of CHD
— Low blood oxygen levels
— Cyanosis, meaning a bluish or dusky color to the baby’s skin
— Childhood symptoms include shortness of breath and fatigue
“Those that are not diagnosed prenatally are almost always diagnosed within the first few weeks of life due to increased neonatal screening,” Ermis says.
The doctor might hear a heart murmur, or notice low oxygen levels on a pulse oximeter (the little clip that goes on a finger, or for babies, their foot). If a baby turns blue from lack of oxygen, a problem is immediately obvious.
Not all mild cases are found early.
“Less complex CHD, such as atrial septal defects, often may not be diagnosed until later in life, sometimes not until middle age or later,” Ermis says. “It’s estimated that even today, 5% to 10% of CHD still is not initially diagnosed until adulthood.”
What Are the Treatments for CHD?
Treatments depend on the defect’s severity. “In some (mild) cases we don’t have to do anything. We just let the babies grow, and small holes in the heart can close on their own,” Zaidi says. In some cases, such as PDA, medication may help defects heal.
But often, babies require surgical procedures. Although heart surgery on a tiny human sounds scary, it may be better than waiting until they’re older.
“Over the last several decades, CHD surgery has focused on performing complete repairs at younger ages, and this has led to improved outcomes,” Daniels says. Success rates are also very good.
“In this day and age in the United States, the top pediatric cardiothoracic surgical programs have anywhere from 97% to 99% success with open heart procedures for infants and babies,” Zaidi says.
After Howell’s successful open-heart surgery, she had a scar down her chest. But “otherwise, I was healthy and healed well because my blood was circulating better,” she says. “I was pretty active as a baby, so my body recovered well, and I started to grow more.”
Open-heart procedures aren’t always necessary with recent improvements in catheter techniques, in which surgery is performed through a tiny tube threaded through a blood vessel to the heart.
“Many CHD repairs can now be performed with purely catheter-based techniques, which avoids open heart surgery,” Daniels says. “Placing stents for narrowed vessels, closing holes and replacing valves in the cathlab has augmented or in some cases replaced some forms of CHD surgery.”
These less invasive procedures have a shorter recovery time, and can even be combined with traditional surgery in “hybrid procedures.” With less stress on the heart, outcomes have improved.
Today in some top congenital heart disease centers, certain procedures can even be performed prenatally.
“Through a catheter through the mom’s umbilical vessels, they can actually get into the fetus’s heart and fix things before the baby even comes out,” Zaidi says.
Prognosis for CHD
Restrictions throughout childhood used to be more common, but not anymore.
“Back in the day, 20 years ago, we used to think children born with congenital heart disease should be restricted from sports and not be allowed to exercise. That concept is completely changed,” Zaidi says. “For most kids, we want them to be active and have a normal lifestyle. Yes, there are exceptions. But that paradigm has shifted.”
That doesn’t mean they’re cured, though.
“The majority of CHD treated in childhood does not provide a cure but a correction of the CHD,” Daniels says. “Most forms of CHD treated in childhood will have residual abnormalities requiring lifelong specialized CHD follow-up. Valve repairs or replacements typically will not last and need re-intervention, stents may need to be reopened, and heart size and function may be affected by the CHD or the repair.”
Complex CHD in particular will need follow-up interventions or surgeries, Ermis says.
Howell has grown up knowing her heart requires special care.
“I had to see the cardiologist yearly and get echocardiograms, stress tests and EKGs,” she says. “But I never minded going to the cardiologist! He was the same man I saw my whole life, and I trusted him very much.”
Moving From Pediatric to Adult Care
Many young adult patients fall through the cracks transitioning from a pediatric cardiologist to a cardiologist specializing in adult CHD (or ACHD), Zaidi says. “They don’t find the right adult cardiologist and just go out in space, and we never hear from them,” he says. “These patients feel fine in their twenties and thirties, don’t see a cardiologist for 20 years, and then sometimes suddenly get sick. I very strongly emphasize that they need to stay in care.”
Howell remained in care, with small interventions keeping her healthy. Her mitral valve, which had been left open a bit to allow for growth, was monitored, and she still gets yearly echocardiograms. In addition, she took medication.
“I was on Procardia from the ages of 10 to 24 to make sure my blood pressure was stable so my heart didn’t overwork,” she says. She also takes antibiotics before dental and other procedures to reduce the risk of endocarditis, a bacterial inflammation common with heart valve problems.
How can adults find ACHD specialists?
All the doctors we talked to stressed the importance of regularly seeing a cardiologist specializing in ACHD. The problem is, there just aren’t that many of them.
“We think there are about 1.5 million adult congenital patients in the U.S.,” Zaidi says. “Do you know how many adult congenital physicians there are in the country? There are 509 board certified ACHD physicians — 509 for 1.5 million people.”
This is partly because the number of children surviving to adulthood with CHD has grown substantially.
“Adult congenital heart disease came into existence about 20 or 25 years ago,” Zaidi says. “But it’s really over the last 10 or 15 years that it really took shape as its own specialty with its own board certification.”
So how can patients access care if they don’t live near an ACHD specialist? Virtual consultations may be an option. Zaidi says some hospitals have outreach clinics, in which doctors travel to another area to see patients. But probably the most likely option is a collaboration between your local cardiologist and a far-away specialist.
“If routine follow up with an ACHD expert is not feasible, they should attempt to have periodic visits with one to check in from time to time; and I recommend establishing routine care with a local general cardiologist who can interact with an ACHD center for questions or concerns,” Ermis says.
The Adult Congenital Heart Association offers a patient resource directory and other support.
Risks of CHD
Having congenital heart disease increases the risk for developing acquired heart disease. Adults with CHD are at greater risk for:
— Arrhythmias, or abnormal heart rhythms
— Pulmonary hypertension, or high blood pressure in the lungs
— Valvular disease, or problems with heart valves
— Heart failure, in which the function and strength of the heart worsen over time
The specific risk depends on the type of CHD and the repair, Daniels says. “Having childhood CHD surgery may lead to cardiac changes over time requiring ACHD evaluation and then if indicated, medical therapy and possibly other heart interventions,” he says.
Pregnancy puts extra strain on the heart, so women with ACHD should be monitored by both an ACHD specialist and a high-risk obstetrician.
“We get them through those pregnancies because they want normal lives, they want a family,” Zaidi says.
Thankfully, this was the case for Howell: “I delivered both my sons in a special room in case something happened to my heart, but I had two healthy vaginal deliveries,” she says.
How can adults with ACHD reduce their risk of future heart problems?
Adults with ACHD should follow the usual advice for keeping a normal heart healthy.
According to Zaidi:
— Don’t drink excessively or smoke.
— Maintain a healthy weight.
— Keep your blood pressure under control.
— Manage your blood sugar and diabetes.
— Eat healthy and monitor your cholesterol.
— Exercise regularly.
Still, “the most important advice to improve quality of life and reduce risk of adverse cardiovascular events is maintaining lifelong follow-up with an adult congenital cardiologist,” Daniels says.
Howell has taken all this advice to heart (another pun intended) and lives a heart-healthy lifestyle. “I try to move as much as I can and stay healthy so my heart doesn’t overwork, and keep stress down as much as I can,” she says. “Because I knew I wasn’t necessarily going to survive, I’ve always lived life the best I could.”
Resources
A handful of summer camps offer a recreational experience for kids with heart conditions. It’s a chance to meet other kids with similar experiences, daily challenges and even surgical scars. Camps have medical personnel on-site. Family camps also include parents and siblings. Programs scattered across the U.S. include Camp del Corazon (California), Camp Joyful Hearts (Ohio) and Camp Luck (North Carolina).
A congenital heart diagnosis means a lifetime of cardiac care, and groups like the Pediatric Congenital Heart Association are improving awareness. The association’s website offers a wealth of information on child development, school resources, teen topics, the transition to adulthood and finding expert care.
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A Patient’s Guide to Congenital Heart Disease originally appeared on usnews.com
