Adult Congenital Heart Disease: What Patients Need to Know

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Texas Children’s No. 1 Heart Center is home to one of only 5 accredited Adult Congenital Heart Programs in the state of Texas 

Izzy’s story

When Izabella was born with a congenital heart defect, doctors warned her mother, Brenda, that her prognosis was not good. Diagnosed during her 16-week evaluation, Izzy was given a 5% chance of survival. 

“Doctors told me that Izzy had a congenital heart disease, and her chances of survival were incredibly slim,” Brenda remembers with emotion. “The survival rate they quoted at the time was about five percent.”

Congenital heart disease (CHD) is one of the most common birth defects; it can vary drastically in terms of symptoms and prognosis. There are different types of CHD and they can sometimes occur in combination. Izzy’s heart defects were extremely complex. However, despite the odds, Izzy has not only survived but thrived under the expert care of Texas Children’s No. 1 ranked pediatric heart center. 

“When I think about the medical staff at Texas Children’s, and all the caregivers who have been involved since the very beginning, I am so grateful,” says Brenda. “Being able to connect with the patients and the families, like they do — even when they are new to us, or just treating Izzy for a day or two— is essential. I know that she’s alive because her medical team was invested in Izabella.”

“If it wasn’t for the doctors at Texas Children’s, and the friends I’ve made along the way, I wouldn’t be where I am today,” Izzy agrees. “That’s what motivates me to keep going, to keep fighting the fight.”

For more than 70 years, Texas Children’s Heart Center has combined cutting-edge technology with a compassionate and family-centered approach to care. More than 1,000 surgeries and 1,600 cardiac catheterization procedures are performed annually in the Lester and Sue Smith Legacy Tower, home of the Heart Center, where an integrated, multidisciplinary approach to care brings to the bedside a comprehensive team of experts who specialize in every aspect of cardiac treatment. For eight years in a row, U. S. News & World Report has named Texas Children’s the best hospital in the country for children in need of pediatric cardiology and heart surgery care.

“With patients like Izzy, the amazing advances that have occurred over the past 80 years — surgical, medical and technological advances — have not only expanded the treatment options but have dramatically improved the outcomes,” said Dr. Peter Ermis, Medical Director of the Adult Congenital Heart Program at Texas Children’s. “Today, almost all children born with CHD will live to reach adulthood, thereby increasing the need for adult congenital heart disease (ACHD) care. It is estimated that between 1.5 to 2 million adults in the United States have CHD.”

Texas Children’s Adult Congenital Heart Program 

In response to this demand, Texas Children’s opened a first-of-its-kind dedicated floor designed for patients with ACHD. The 27,000-square-foot space includes a 16-bed inpatient unit, outpatient clinic, cardiac rehab gym, diagnostics lab and more. Texas Children’s Adult Congenital Heart Program is accredited by the Adult Congenital Heart Association and is one of only five accredited ACH programs in Texas. 

Now 20 years old, Izzy has transitioned from pediatric care to adult treatment at Texas Children’s ACH program. Members of the ACH team at Texas Children’s advise patients like Izzy on health and lifestyle choices for adult needs, including physical challenges, exercise options and family planning.

“Reality didn’t sink in until the ACH team started treating Izzy,” said Brenda. “Both teams — both pediatric and adult care — would see her in the hospital room at the same time, and a lot of the conversations involved what to expect in Izzy’s long-term care and how she can become independent with her treatment.”

Dr. Ermis explained that, because CHD is a lifelong disease, follow-up care is essential for patients like Izzy — that’s why ACHD programs are so important. 

“With congenital heart disease, lifelong monitoring is required — it’s never really cured, per se,” said Dr. Ermis. “For nearly all children treated for CHD, we anticipate problems occurring later in life.”

Here’s what to know about ACHD.

What is ACHD?

Congenital heart disease refers to a large range of heart defects that develop before birth and may be diagnosed in utero, after birth or even late into adulthood. These defects affect how a heart develops and functions throughout a patient’s life and can influence the way blood flows through the heart. Although some defects are minor and never cause any symptoms, around 25 percent of all patients born with CHD will require surgical interventions within the first year of life.

ACHD refers to adult patients who have CHD. A few decades ago, the prognosis for children like Izzy, who were born with complex CHD, was dire. Thanks to advances in treatment, the survival rate has improved dramatically. According to the National Institutes of Health, the population of adult CHD patients is growing at a rate of 5% per year; there are now far more adults than children with CHD.  

What causes ACHD?

Most people with CHD are diagnosed and treated in infancy, though some defects are not detected until adulthood. ACHD is, by definition, a congenital defect. There is ongoing research to determine the causes of CHD. It appears to run in families, which means that genetic abnormalities play a role. Researchers believe that other risk factors, such as health conditions and environmental or lifestyle influences during pregnancy, may also be involved. If a mother receives a German Measles diagnosis during pregnancy, for example, it can increase the risk of heart defects. 

“We don’t completely know what causes it,” said Dr. Ermis. “Congenital heart disease is an abnormality of the heart and surrounding blood vessels that occur while those structures are being formed in utero; sometimes it’s related to genetic abnormalities or gene mutations that are inherited, sometimes it appears to occur de novo in the child. Often, we just don’t know. There is a lot of research being conducted to better understand this disease and its myriad causes.”   

What are the different types of ACHD?

Broadly speaking, ACHD can be divided into two categories: a mild defect with no symptoms early in life that becomes associated with later symptoms and gets diagnosed in adulthood, or a complex defect that requires intervention in childhood and ongoing repair and follow-up treatments in adulthood. Patients with repaired defects will need lifelong cardiac care. On rare occasions, patients may experience symptoms of complicated heart defects for the first time as adults. 

There are many different types of specific congenital heart defects. Some of the most common include: 

Obstructive defects, such as:

• Aortic Stenosis: a defect in the aortic valve between the left ventricle and the aorta that makes it difficult for the heart to pump blood to the body. Symptoms may include chest pain, fatigue, dizziness or even fainting. 
• Pulmonary Stenosis: a defect in the pulmonary valve between the right ventricle and the pulmonary artery that causes the heart to pump harder than normal to overcome the blockage.

Septal defects, such as:

• Atrial septal defect: an opening between the right and left atria that causes abnormal blood flow through the heart. Children with this defect may exhibit few symptoms. In other cases, closing the defect through surgical intervention may prevent complications later in life.
• Ventricular septal defect: a hole between the lower two chambers of the heart that causes extra blood to be pumped into the lungs by the right ventricle. Small ventricular septal defects may close on their own but larger ones will require surgery or a catheter procedure. 

Other defects

• Tetralogy of Fallot: a condition that is characterized by four defects — ventricular septal defect, pulmonary stenosis, hypertrophy of the right ventricle and an aorta positioned directly over the ventricular septal defect. Most children with tetralogy of Fallot will require open heart surgery as babies to close the ventricular septal defect and remove the obstructing muscle. 
• Fontan circulation: a condition in which children diagnosed with a single ventricle defect receive multiple surgeries to create a new blood-flow configuration called the Fontan circulation. This allows blood to pass from the veins instead of the ventricle to the pulmonary artery and then the lungs. Adults with Fontan circulation may develop complications later in life, including blood clots, heart rhythm disorders, heart failure and liver disease. 
• Patent ductus arteriosus: a defect that keeps what is typically a temporary, in-utero connection between the pulmonary artery and the aorta open and thereby causes blood to flow backward. 
• Ebstein anomaly: a defect characterized by a downward displacement of the tricuspid valve that leads to an enlarged atrium and can cause heart rhythm abnormalities and heart failure. 

How is ACHD diagnosed?

CHD may be diagnosed in the womb before birth, in infancy, childhood or adulthood. In the latter cases, doctors perform physical exams and listen to the heart through a stethoscope. Additional tools that help diagnose heart defects in adults include echo, chest X-rays, MRIs, EKGs or ECGs, cardiac catheterization with dye injections, heart computed tomography and more.

“CHD can be diagnosed while the baby is still a fetus in utero,” said Dr. Ermis. “If ultrasounds reveal abnormalities with the heart, the mother will be sent for a dedicated fetal echocardiogram by a fetal cardiologist. Another, though less common, time for diagnosis is shortly after birth. Oxygen screenings or the presence of symptoms— like poor feeding, poor growth and blueness around the lips, fingers or toes — reveal abnormalities, which leads to further testing. ” 

Symptoms of ACHD

If CHD is not detected during childhood, some of the symptoms that may lead to an ACHD diagnosis include:

• Shortness of breath
• Fatigue
• Chest pain
• Skin color changes
• Hearth rhythm issues 
• Heart murmur 

“Symptoms vary greatly depending on the type, number and severity of heart defects,” said Dr. Ermis. “Sometimes adult patients receive other diagnoses, such as asthma, when there is actually an underlying undiagnosed congenital heart disease that is the real cause of their symptoms.”

What are treatments for ACHD?

Treatments for ACHD depend on the symptoms and severity of the defects and can include:

• Medications
• Implantable devises
• Surgery
• Catheter-based treatments
• Heart transplant

“Some cases of ACHD are mild and don’t require treatment beyond careful and frequent monitoring,” said Dr. Ermis. “In mild cases, the risk of complications can be reduced through lifestyle changes such as eating a heart-healthy diet, physical activity and getting regular checkups.” 

Moving from pediatric to adult care

The transition from pediatric to adult care requires careful planning to help children with heart defects lead healthy, independent lives as adults. Even if their heart defects have been repaired, people with CHD often require additional medications, surgeries or other procedures as they grow older. A healthcare transition plan should include education about specific defects and medications, locating an adult provider and accessing adult health insurance coverage for a child. 

“The period of transition from childhood to adulthood is crucial with congenital heart diseases,” said Dr. Ermis. “As patients are becoming adults, it is important for them to know about their diagnoses, their prescriptions and appointments and how to take responsibility for their own care. At Texas Children’s, patients have a smooth handoff to adult care thanks to our incredible Cardiology Transition Program and Adult Congenital Heart Program. It is imperative for patients to continue seeing congenital heart specialists and, ideally, ACHD board-certified doctors who are experts in treating their specific conditions.” 

Texas Children’s Adult Congenital Heart Program is one of the largest programs in the nation, with over 4500 adult visits annually. “There is a misconception that because Texas Children’s is a pediatric hospital we only treat young adults,” said Dr. Ermis. “The truth is, we see patients of all ages: not only young adults but patients in their 30s, 40s, 50s—even patients in their 80s and 90s.”

Learn more about the ACH program or call 832-822-2243 to schedule an appointment.