What Is Congenital Heart Disease?

Congenital heart disease (CHD) is any change in heart structure that occurs before birth. Changes in blood vessel structure, function, or defects in heart wall muscle or valves may be identified before birth, shortly after birth, or later in life.

CHD is fairly common, affecting nearly 1% of babies born each year in the United States.^1,2 Of babies born with CHD, about one in every four has a critical form that requires medical intervention, commonly surgery, within the first year of life.³

Because of advances in care, 85% to 90% of people with CHD survive to adulthood.⁴ About 1.4 million adults and 1 million children live with CHD in the U.S. Nearly 300,000 people have a severe form of CHD.⁵

With improved healthcare and an extended lifespan, healthcare providers and individuals with CHD need to understand how CHD impacts their overall health and well-being.⁴

Types of Adult Congenital Heart Disease

CHD varies from mild to severe. Sometimes CHD may not be identified until adulthood. Other forms of CHD are identified before birth due to potentially life-threatening complications and then must be monitored throughout life. Since all changes in heart structure that are present before birth fall under the umbrella of CHD, many forms of CHD exist.

Examples of CHD found in adults include:^6,7

• Atrial septal defect (ASD): An ASD is a hole in the wall between the atria, which are the two upper chambers in the heart. A hole between the two upper chambers of the heart allows oxygenated and unoxygenated blood to mix. Because of this mixing, the heart and lungs must work harder to deliver adequate oxygenated blood to body tissues.
• Ventricular septal defect (VSD): A VSD is a defect in the wall between the two ventricles, which are the two lower chambers in the heart. Like an ASD, it allows the mixing of oxygenated and unoxygenated blood, increasing the workload on the heart and lungs and increasing the risk of heart failure.
• Patent foramen ovale (PFO): A PFO is a small hole between the two atria that does not close at birth as expected. The PFO is used to bypass the lungs before birth. Depending on its size, a PFO may cause serious symptoms as it can allow small blood clots to travel through the heart and lodge in the brain, or the mixing of oxygenated and unoxygenated blood may be significant and cause a decrease in blood oxygenation.
• Tetralogy of Fallot (TOF): TOF is a complex CHD that involves four heart defects, including VSD, pulmonary stenosis (narrowing of the valve between the right ventricle and the pulmonary artery), an overriding aorta, and thickening of the right ventricular wall. This combination of heart abnormalities causes significant mixing of oxygenated and deoxygenated blood, typically causing decreased blood oxygen levels.
• Ebstein anomaly: In this condition, the valve between the right atrium and right ventricle is malformed, allowing blood to backflow from the right ventricle into the right atrium. An Ebstein anomaly can be associated with other heart problems.
• Atrioventricular canal defect: In this condition, a hole between the upper chambers may extend to the lower chambers as well. Abnormalities in the valves between the atria and ventricles allow extra blood to reflux into the lungs, which forces the heart to work harder.
• Coarctation of the aorta: In this condition, the aorta (the major vessel leaving the left ventricle that carries blood to the body) is narrowed. Depending on the degree of narrowing, symptoms can range from mild to severe.
• Transposition of the great arteries (TGA): In this condition, the aorta leaves the right atrium, and the pulmonary artery leaves the left (they are switched). Because blood from the body cannot go to the lungs to be oxygenated, surgery is typically required to reverse the arteries.
• Double outlet right ventricle: In this condition, both the aorta and the pulmonary artery come off the right ventricle, allowing the mixing of oxygenated and deoxygenated blood.
• Valvular stenosis or regurgitation: Any of the heart valves may be too narrow (stenosis) and reduce blood flow from one heart chamber to the next or too loose (regurgitation), allowing backflow from one chamber to the previous one.

Some CHDs are milder and identified later in life, and some, like Eisenmenger syndrome, occur as a result of an unrepaired CHD.

Signs and Symptoms of CHD

Symptoms of CHD are usually due to a lack of oxygenated blood reaching body tissues or changes in blood flow to the heart and lungs and may include:

• Blue or gray color to the skin
• Changes to fingernails and toenails
• Chest pain or tightness
• Cold feet
• Dizziness
• Fainting
• Fatigue
• Headaches
• Irregular heartbeat
• Leg cramps
• Nosebleeds
• Racing heartbeat (palpitations)
• Shortness of breath at rest
• Swelling of the legs, feet, or abdomen

Symptoms that are more classic in infants include:

• Bluish color to lips, fingers, and toes
• Difficulty breathing
• Difficulty feeding
• Excessive sweating
• Low birth weight
• Irritability
• Paleness

While CHD or symptoms of heart disease generally require emergency medical care and telemedicine would not be an appropriate treatment option, if you have questions about your symptoms and do not feel that they are an emergency, contact a doctor on call at Telegra MD to discuss your symptoms and receive an online diagnosis.

Causes of Congenital Heart Disease

Congenital heart diseases occur before birth and are likely due to a combination of genetic and environmental factors.

Factors that may increase the risk of CHD include:^8,9,10

• Chromosomal abnormalities and other genetic changes that are inherited from either parent, as well as some genetic syndromes such as Down, Turner, and DiGeorge syndromes
• Exposure to certain viruses, especially during the first trimester of pregnancy
• Some medications and drugs taken during pregnancy
• Alcohol or illegal drug use
• Smoking
• Folic acid deficiency
• Maternal health conditions such as diabetes, obesity, and uncontrolled phenylketonuria (PKU)

How Is Congenital Heart Disease Diagnosed?

Congenital heart disease may be diagnosed at any time. A defect in how the heart develops may be found incidentally during prenatal screenings or may be uncovered as the reason for poor growth before a baby is born or unexplained high blood pressure in an adult.

Prenatal Tests

Prenatal tests that may help diagnose CHD include:

• Ultrasound: a routine anatomy ultrasound may show abnormalities in the heart wall, valves, or blood vessels.
• Fetal echocardiography: ultrasound is used in fetal echocardiography to investigate the heart’s structure.
• Genetic testing: genetic testing may be requested to learn whether CHD is part of a genetic syndrome or if there is a family history of CHD.

Postnatal Tests

Tests that can help diagnose CHD in newborns, children, and adults include:

• Medical history: signs and symptoms may point to CHD as a cause.
• Physical exam: Abnormal heart sounds called murmurs can indicate a change in heart structure.
• Electrocardiogram: Electrodes are attached to the skin surface to quickly measure the heart’s electrical activity.
• Echocardiogram: Ultrasound is used to create images of the heart’s structure.
• Cardiac catheterization: In this more invasive test, a catheter is fed through blood vessels to the heart and is used to measure blood pressure and oxygenation in the heart chambers.

Psychological and Emotional Impacts of CHD

Living with a chronic heart condition, such as CHD, can induce fear, anxiety, depression, and loneliness. Frequent hospitalizations, tests, surgeries, existential questions, and genetic risk factors can all contribute to these feelings. Between 50% and 75% of children and young adults with complex CHDs also live with neurodevelopmental disabilities.¹¹

In one study, 20% of patients with CHD met the criteria for post-traumatic stress disorder. Some adults with CHD report feeling different, having difficulty with social interactions, having social anxiety, having lower educational attainment, and having higher unemployment rates.

Adults with CHD may also need to overcome challenges associated with romantic relationships, sexuality, and family planning.¹²

How Is CHD Treated?

Depending on the structural change in the heart and its consequences, treatment can range from observation to emergency surgery. Surgery is used to repair a defect in a muscle wall, repair or replace a valve, or redirect blood flow through the heart. A heart transplant may be the best option when the heart cannot be repaired. This requires taking immune-suppressing medications for life and is only an option if a well-matched heart is available for transplant.

Whether or not surgical treatment is needed, medications may be prescribed to manage blood pressure, decrease the risk for abnormal heart rhythms, and improve heart muscle contractility. These medications improve overall heart function and decrease the load on the heart.

In less serious cases of CHD, people may choose to use heart health supplements to manage symptoms and improve heart function. Some of these medications work, and others provide little benefit.

CHD can be identified at any age, and even after it is identified and treated, most people with CHD will require long-term follow-up care with cardiologists and other specialists to monitor for any complications that may develop.

If you have CHD and are unsure whether your lifestyle choices are affecting how well your heart functions, contact a 24-hour doctor, such as the accredited specialists available on the Telegra MD platform, for help managing your blood pressure, cholesterol, blood sugar, and weight. Ask about a smoking cessation plan if you are smoking and are ready to quit. Cardiologists and healthcare providers specializing in helping people live their healthiest lives can write online prescriptions and provide individualized treatment plans.

Disclaimer

While we strive to always provide accurate, current, and safe advice in all of our articles and guides, it’s important to stress that they are no substitute for medical advice from a doctor or healthcare provider. You should always consult a practicing professional who can diagnose your specific case. The content we’ve included in this guide is merely meant to be informational and does not constitute medical advice.

References:

1. Hoffman JL, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol. 2002;39(12):1890-1900.
2. Reller MD, Strickland MJ, Riehle-Colarusso T, Mahle WT, Correa A. Prevalence of congenital heart defects in Atlanta, 1998-2005. J Pediatr. 2008;153:807-13.
3. Oster ME, Lee KA, Honein MA, Riehle-Colarusso T, Shin M, Correa A. Temporal trends in survival among infants with critical congenital heart defects. Pediatrics. 2013 May;131(5):e1502-8. doi: 10.1542/peds.2012-3435. Epub 2013 Apr 22. PMID: 23610203; PMCID: PMC4471949.
4. Downing KF, Oster ME, Klewer SE, Rose CE, Nembhard WN, Andrews JG, Farr SL. Disability Among Young Adults With Congenital Heart Defects: Congenital Heart Survey to Recognize Outcomes, Needs, and Well-Being 2016-2019. J Am Heart Assoc. 2021 Nov 2;10(21):e022440. doi: 10.1161/JAHA.121.022440. Epub 2021 Oct 20. PMID: 34666499; PMCID: PMC8751822.
5. Gilboa SM, Devine OJ, Kucik JE, Oster ME, Riehle-Colarusso T, Nembhard WN, Xu P, Correa A, Jenkins K, Marelli AJ. Congenital Heart Defects in the United States: Estimating the Magnitude of the Affected Population in 2010. Circulation. 2016 Jul 12;134(2):101-9. doi: 10.1161/CIRCULATIONAHA.115.019307. Epub 2016 Jul 5. PMID: 27382105; PMCID: PMC4942347.
6. Mutluer FO, Çeliker A. General Concepts in Adult Congenital Heart Disease. Balkan Med J. 2018 Jan 20;35(1):18-29. doi: 10.4274/balkanmedj.2017.0910. PMID: 29400306; PMCID: PMC5820444.
7. Prica M, Kamalathasan S, Gopaul K, Warriner D. Adult congenital heart disease: a review of the simple lesions. Br J Hosp Med (Lond). 2022 Jan 2;83(1):1-12. doi: 10.12968/hmed.2021.0302. Epub 2022 Jan 26. PMID: 35129382.
8. Sun R, Liu M, Lu L, Zheng Y, Zhang P. Congenital Heart Disease: Causes, Diagnosis, Symptoms, and Treatments. Cell Biochem Biophys. 2015 Jul;72(3):857-60. doi: 10.1007/s12013-015-0551-6. PMID: 25638345.
9. Gianicolo EA, Cresci M, Ait-Ali L, Foffa I, Andreassi MG. Smoking and congenital heart disease: the epidemiological and biological link. Curr Pharm Des. 2010;16(23):2572-7. doi: 10.2174/138161210792062849. PMID: 20550501.
10. Soheilirad Z. Folic acid intake in prevention of congenital heart defects: A mini evidence review. Clin Nutr ESPEN. 2020 Aug;38:277-279. doi: 10.1016/j.clnesp.2020.05.021. Epub 2020 Jun 27. PMID: 32690169.
11. Gonzalez VJ, Kimbro RT, Cutitta KE et al. Mental Health Disorders in Children with Congenital Heart Disease. Pediatrics February 2021; 147 (2): e20201693. 10.1542/peds.2020-1693
12. Lui, G. K., Saidi, A., Bhatt, A. B., Burchill, L. J., Deen, J. F., Earing, M. G., … & Yoo, S. J. (2017). Diagnosis and management of noncardiac complications in adults with congenital heart disease: a scientific statement from the American Heart Association. Circulation, 136(20), e348-e392.