A congenital heart defect is one that's present at birth
By Sarah Jividen, RN
Medically reviewed by Jeffrey S. Lander, MD
Congenital heart disease (CHD) is a variety of structural and functional abnormalities in the heart that are present at birth.1 These conditions can affect the heart's chambers, valves, or blood vessels, varying in severity from relatively minor to life-threatening.2
Congenital heart disease occurs during the early stages of fetal development when the heart is forming.2 It can result from genetic factors, maternal health issues, or environmental factors, although in many cases, the exact cause is not known.3 There are many types, ranging from simple conditions with no symptoms to those with severe, life-threatening symptoms.3
This article covers everything about congenital heart disease, including types, symptoms, causes, treatments, and more.
Morten Falch Sortland / Getty Images
Types of Congenital Heart Disease
Congenital heart disease can be classified into these two main categories based on the presence or absence of cyanosis:1
Cyanosis: Cyanosis is a bluish or purplish discoloration of the skin and mucous membranes, such as the lips and nail beds. It occurs when there is a decreased amount of oxygen in the bloodstream. This lack of oxygen in the blood leads to a higher concentration of deoxygenated hemoglobin, which has a bluish color, making the skin appear bluish.4
Acyanosis (non-cyanotic): Acyanosis is the absence of cyanosis, meaning the skin appears pink or normal in color because there is sufficient oxygen in the blood. In the context of congenital heart disease, non-cyanotic congenital heart diseases are heart defects that allow a relatively normal amount of oxygen to be delivered to the body's tissues.1
Cyanotic and Acyanotic Congenital Heart Disease
Cyanotic congenital heart diseases include:1
Pulmonary atresia
Transposition of the great vessels
Ebstein anomaly
Hypoplastic left heart
Tetralogy of Fallot
Tricuspid atresia
Truncus arteriosus
Total anomalous pulmonary venous return
Non-cyanotic congenital heart diseases include:1
Ventricular septal defect (VSD)
Aortic stenosis
Bicuspid aortic valve
Patent ductus arteriosus (PDA)
Atrial septal defect (ASD)
Coarctation of the aorta
Pulmonic stenosis
Atrioventricular canal (endocardial cushion defect)
What Are the Symptoms of Congenital Heart Disease?
The symptoms of congenital heart disease can vary widely depending on the specific type and severity of the defect. Some individuals will have no noticeable symptoms, while others will experience significant signs of heart problems.
Some common symptoms and signs of congenital heart disease may are:5
Cyanosis
Low blood pressure shortly after birth
Difficulty breathing
Fatigue
Poor growth or weight gain
Feeding problems or tiredness when feeding
Heart murmurs
Sleepiness3
Regular medical checkups, including prenatal screenings for expectant mothers and postnatal screenings for newborns, can help identify these conditions early. Early diagnosis and intervention are crucial to improving outcomes and managing congenital heart disease effectively.
What Causes Congenital Heart Disease?
The causes of congenital heart disease can be attributed to a combination of factors. Here are the key causes and risk factors:3
Unknown causes (most cases)
Genetic or chromosomal changes
Genetics
Environmental factors
Maternal health conditions, such as preexisting diabetes or obesity
Maternal medication use during pregnancy
Smoking during pregnancy
Specific medications taken during pregnancy
It's important to note that while these factors may increase the risk of congenital heart disease, the exact cause can vary among individuals, and in many cases, it remains unknown. Early detection, proper prenatal care, and medical intervention are crucial to managing and treating the conditions.
How Is Congenital Heart Disease Diagnosed?
Congenital heart disease can be diagnosed through various methods. It may be identified before birth, shortly after birth, or later in life, depending on the type and severity of the heart defect.
Before Birth
Many congenital heart diseases can be detected during routine prenatal ultrasound examinations. The ultrasound can show images of the developing fetal heart, allowing healthcare providers to assess its structure and function.3
A fetal echocardiogram is a specialized type of ultrasound that focuses on creating detailed images of the developing baby's heart during pregnancy. This diagnostic tool is particularly useful for identifying heart issues before birth.3
After Birth
After birth, a pediatrician or neonatologist may physically examine the newborn to check for signs of congenital heart diseases, such as heart murmurs, cyanosis, or abnormal heart sounds.5
A device called a pulse oximeter may also be used. This noninvasive test measures the oxygen saturation in the baby's blood and can help identify heart defects associated with low oxygen levels.6
Other diagnostics tools used to diagnose congenital heart diseases include:6
Echocardiogram: A test that uses sound waves to create detailed images of the heart's structure and function
Chest X-rays: X-rays can provide additional information about the heart's size and blood flow
Cardiac magnetic resonance imaging (MRI): Can provide more detailed images of the heart and its blood vessels
Electrocardiogram (ECG or EKG): An ECG measures the electrical activity of the heart and can help detect irregular rhythms or abnormalities
Cardiac catheterization: In some cases, a cardiac catheterization procedure may be performed to assess the structure and function of the heart. This involves inserting a thin, flexible tube (catheter) into the blood vessels and heart.7
Genetic testing: If a genetic component is suspected, genetic testing may be considered to identify specific gene mutations associated with the heart defect
Early diagnosis is crucial to ensure prompt and appropriate treatment, especially in severe cases. Once diagnosed, a treatment plan can be developed to address the individual's unique needs, which may involve medical management, catheter-based interventions, or surgery.
How Is Congenital Heart Disease Treated?
Treatment for congenital heart disease varies depending on the type and severity of the defect. Some congenital heart diseases require no treatment, while others necessitate immediate medical intervention.1
In cases of mild congenital heart disease or when the defect doesn't cause significant symptoms or problems, healthcare providers may opt for regular monitoring and observation to ensure the condition doesn't worsen over time.1
Other common treatment options for congenital heart disease include the following:
Medications
Medications can be prescribed to manage symptoms and improve heart function in certain types of congenital heart disease. Medications may help control blood pressure, reduce fluid retention, regulate heart rhythms, or enhance heart muscle function. Medications may include:8
Beta-blockers: Reduce heart rate and blood pressure, making the heart work less
Diuretics: Remove excess salt and water from the body, reducing fluid retention and high blood pressure
Vasodilators: Relax blood vessels, lowering blood pressure and increasing blood flow
Prostaglandins: Maintain the patency (being open and unobstructed) of the ductus arteriosus in certain congenital heart diseases in newborns
Antiarrhythmics: Control an irregular heart rhythm (arrhythmia)
Digoxin: Increases the strength of the heart's contractions
Implantable Heart Devices
Implantable heart devices are essential in managing certain congenital heart diseases. These devices are often used to regulate or improve heart rhythms and improve heart function.
Implantable heart devices used in the context of congenital heart disease include:
Pacemakers: These small, implantable devices help regulate the heart's rhythm.9
Implantable cardioverter-defibrillators (ICDs): ICDs can deliver electrical shocks to restore normal heart rhythm in cases of a dangerous arrhythmia.9
Catheter Procedures
Some congenital heart diseases can be treated using minimally invasive catheterization techniques. These procedures involve inserting a thin, flexible tube (catheter) into a blood vessel, often through the groin, and guiding it to the heart.7
Various interventions can be performed through catheterization instead of heart surgeries, including replacing heart valves and repairing heart defects.7
Open-Heart Surgery
Open-heart surgery may be necessary for more complex congenital heart diseases or those that cannot be treated with a catheter.
Heart surgery can involve:10
Repairing or reconstructing heart structures
Closing holes or rerouting blood flow to improve heart function
Performing a heart transplant
Heart Transplant
A heart transplant is a surgical procedure in which a failing heart is replaced with a healthy donor heart.11 Heart transplantation may be considered in severe and irreversible heart damage cases. This treatment option is for individuals with life-threatening congenital heart diseases that cannot be effectively managed through other means.
Congenital Heart Disease in Adults
From childhood into adulthood, those living with congenital heart defects should maintain ongoing care with a specialized cardiologist, even if their defect was repaired.10
Some patients may require multiple heart surgeries or catheter-based procedures throughout their lifetime, alongside medication regimens designed to optimize heart function. In some cases, people must take medications to hear their hearts throughout their lifetimes.10
Risk Factors for Congenital Heart Disease
Several factors may influence the risk of having a child with a congenital heart defect, including:12
Family history and genetics: While congenital heart disease is generally not hereditary, there is a slight risk if the baby's other parent or a sibling has a congenital heart defect.
Smoking and secondhand smoke exposure: Maternal smoking during pregnancy or exposure to secondhand smoke can increase the risk.
Medications during the first trimester: Some medications taken in the early stages of pregnancy, like angiotensin converting enzyme (ACE) inhibitors or retinoic acids, may increase risk.
Other medical conditions: Conditions such as diabetes or maternal rubella infection can also elevate the risk.
How Can Congenital Heart Disease Be Prevented?
In many cases, congenital heart disease is not preventable. However, there are some things you can do to lower your infants risk, including the following:13
Avoid taking medications that could cause congenital heart disease. Talk to your healthcare provider about which drugs are safe for you to take while trying to conceive and during pregnancy.
Meet with a genetic counselor.
Quit smoking.
Complications of Congenital Heart Disease
Congenital heart disease can lead to complications that can vary in severity depending on the type and severity of the heart defect. Some common complications may include:14
Heart failure
Arrhythmia
Blood clots, which can lead to stroke or other embolic events
Endocrine disorders, such as diabetes, thyroid problems, or bone health issues
Pulmonary hypertension, or high blood pressure in the lungs, which can strain the heart and affect lung function
Kidney or liver disease
Developmental disorders and delays
Living With Congenital Heart Disease
If you or your child has a congenital heart disease, it is important to schedule regular health checkups with your healthcare provider, take medications, and go to the dentist regularly.14
Your provider may also recommend monitoring your child's condition, depending on their individual condition:14
Urine or blood tests
Abdominal imaging with ultrasound, MRI, or CT scan to check for liver disease
Spirometry: to measure how well the lungs are working
Summary
Congenital heart disease involves a range of structural and functional abnormalities in the heart present from birth. These conditions can vary in complexity and severity.
While its exact causes often remain unknown, congenital heart disease may result from genetic, environmental, or maternal factors. Early diagnosis through prenatal screenings and postnatal assessments is vital for timely intervention and tailored treatments.
Patients with congenital heart disease can often lead fulfilling lives with the right medical care, including medications, surgical procedures, implantable devices, and regular follow-ups with their healthcare providers.
14 Sources
MedlinePlus. Congenital heart disease.
American Heart Association. The impact of congenital heart defects.
Centers for Disease Control and Prevention. What are CHDs?
Medline Plus. Blue discoloration of the skin.
American Heart Association. Symptoms and diagnosis of congenital heart defects.
National Heart, Lung, and Blood Institute. Congenital heart defects diagnosis.
National Heart, Lung, and Blood Institute. What is cardiac catheterization?
Varela-Chinchilla CD, Sánchez-Mejía DE, Trinidad-Calderón PA. Congenital heart disease: The state-of-the-art on Its pharmacological therapeutics. Journal of Cardiovascular Development and Disease. 2022; 9(7):201. https://doi.org/10.3390/jcdd9070201
American Heart Association. Implantable medical devices.
MedlinePlus. Congenital heart defects.
American Heart Association. Heart transplant.
National Heart, Lung, and Blood Institute. Congenital heart defects causes and risk factors.
American Heart Association. Congenital heart defects screening and prevention.
National Heart, Lung, and Blood Institute. Congenital heart defect - living with.
By Sarah Jividen, RN
Sarah Jividen, RN, BSN, is a freelance healthcare journalist and content marketing writer at Health Writing Solutions, LLC. She has over a decade of direct patient care experience working as a registered nurse specializing in neurotrauma, stroke, and the emergency room.
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