seoadmin Congenital heart defects are structural abnormalities of the heart present at birth. These defects can involve the heart’s walls, valves, arteries, veins, and a combination.
CHD may range from simple defects to complex conditions requiring immediate medical intervention. Some of the most common types of CHD include
- Atrial septal defect (ASD),
- Ventricular septal defect (VSD),
- Tetralogy of Fallot (TOF), and
- Patent ductus arteriosus (PDA).
“Considering a birth prevalence of congenital heart disease as 9/1000, the estimated number of children born with congenital heart disease in India is more than 200,000 per year. Of these, about one-fifth are likely to have serious defects, requiring intervention in the first year of life. Advanced cardiac care is available to only a minority of such children.”
(Source: https://www.indianpediatrics.net/dec2018/dec-1075-1082.htm)
Such defects can occur in any race or ethnic group, affecting both genders equally. It can also increase the risk of stroke and other health issues. Understanding the causes, symptoms, and treatment options for Congenital heart defects can help patients and their families make informed decisions about their health and manage their condition effectively.
This guide provides information about CHD, including its causes, symptoms, diagnosis, treatment, and management. In addition, it aims to educate about the condition and its potential complications and provide resources for support and guidance.
Causes and Risk Factors
Causes
A baby’s heart begins to form and beat in the first six weeks of pregnancy. During this critical time, the major blood vessels that run to and from the heart also start to develop.
Congenital heart defects may begin to develop at this point in a baby’s development.
Genetics, certain medical conditions, environmental factors, or lifestyle factors, including smoking, may cause such defects.
Risk Factors
However, researchers are unsure of the exact cause of congenital heart disease, but some risk factors have been identified. These risk factors include the following:
Rubella (German Measles)
Rubella during pregnancy can cause problems in the development of the baby’s heart. Therefore, a blood test is done before pregnancy to check whether the mother is immune to rubella. The mother receives a vaccination shot if her rubella immunity is determined to be low.
Diabetes
Taking control of your blood sugar levels before and during pregnancy can help reduce the risk of such defects. Though diabetes that develops during pregnancy, also known as gestational diabetes, doesn’t generally increase the risk of CHD for a baby.
Medications
Certain medications taken during pregnancy may cause some birth defects, including CHD. Therefore, make sure you give your healthcare provider a list of medicines that you take before trying to get pregnant.
Some of the medications that are known to increase the risk of CHD for a child are thalidomide (Thalomid), angiotensin-converting enzyme (ACE) inhibitors, statins, the acne medication isotretinoin (Myorisan, Zenatane, others), some epilepsy drugs and certain anxiety drugs.
Drinking Alcohol During Pregnancy
It is one of the risk factors that can increase the risk of congenital heart defects in a baby.
Smoking During Pregnancy
Smoking is injurious to health, but smoking during pregnancy can become a major threat to your child. It can increase the risk of CHD in your newborn.
Family History and Genetics
Sometimes such defects may run in the family (means inherited) or may be associated with a genetic syndrome. Often, an extra 21st chromosome or a missing piece of genetic material on chromosome 22nd can cause congenital heart disease.
Types of Common Defects
These are a group of conditions that affect the structure and function of the heart present at birth. These defects can range from mild to severe and may require medical intervention to correct.
Structural Defects
Structural defects involve abnormalities in the physical structure of the heart, including the chambers, walls, valves, and vessels.
- Septal Defects occur when an abnormal opening between the heart’s chambers allows blood to flow between them. This can lead to a mixture of oxygenated and deoxygenated blood, which can cause problems with circulation and breathing.
- Valve Defects occur when the heart’s valves do not function properly, leading to issues with blood flow.
- Obstructive Defects occur when there is a blockage or narrowing in the heart or blood vessels, which can cause problems with blood flow and lead to heart failure.
Functional Defects
Functional defects involve abnormalities in the heart’s ability to function properly, such as arrhythmias, cardiomyopathy, and heart failure.
- Arrhythmias occur when an irregular heartbeat decreases the ability to pump blood effectively.
- Cardiomyopathy is a heart muscle disease that can cause the heart to become enlarged, thickened, or rigid, leading to reduced functioning.
- Heart failure occurs when the heart can’t pump enough blood to meet the body’s needs, leading to shortness of breath, fatigue, and swelling.
Understanding the different types of CHD is important for proper diagnosis and treatment. Surgery or other medical interventions are sometimes necessary to correct the defect and improve heart function.
Diagnosis of Congenital Heart Defects
Prenatal Diagnosis
Such defects can often be diagnosed before birth through routine ultrasound screening during pregnancy. If a defect is suspected, a fetal echocardiogram may be performed to confirm the diagnosis.
Postnatal Diagnosis
Some CHDs do not become apparent until after birth. A pediatrician or pediatric cardiologist will conduct a physical exam and may suggest diagnostic tests to confirm the diagnosis.
Imaging Tests
Imaging tests, such as echocardiograms, CT scans, and MRIs, can help diagnose the specific type and severity of the defect. These tests allow doctors to see the heart structures and how they function.
Electrophysiology Studies
These studies help diagnose abnormal heart rhythms or arrhythmias, which can be a complication associated with some CHD. Electrophysiology studies involve inserting catheters into the heart to measure its electrical activity.
Genetic Testing
In some cases, these defects may be associated with genetic disorders or syndromes. Genetic testing can help identify any underlying genetic causes or predispositions to these defects. It may also be recommended for family members of the affected individual.
Treatment of Congenital Heart Defects
Medications
Medications can manage heart failure, high blood pressure, or arrhythmias. Some medications can also help to prevent blood clots from forming.
Catheter Procedures
Catheter-based procedures involve inserting a thin, flexible tube (catheter) through a blood vessel and into the heart. These procedures can repair certain types of defects without surgery. Examples of catheter-based procedures include balloon angioplasty to widen narrowed blood vessels, closure of septal defects using a device, or insertion of a stent into a narrowed vessel.
Surgery
Some defects require open-heart surgery to repair or replace the abnormal heart structures. Surgery may involve repairing or replacing heart valves, closing septal defects, or reconstructing malformed blood vessels.
Heart Transplant
In rare cases, a heart transplant may be necessary if the heart defect cannot be treated with medication or surgery. This is typically reserved for severe or life-threatening cases.
It’s important to note that the type of treatment recommended will depend on the specific defect and the severity of the condition. Treatment may require a team approach, with specialists in cardiology, surgery, and genetics working together to provide the best care for the patient.
Management of These Defects
Follow-up Care
Regular check-ups with a cardiologist are important to monitor the heart’s function and detect potential complications. The frequency of visits will depend on the severity of the defect and the type of treatment received.
Lifestyle Changes
People with such defects may need lifestyle changes to maintain their health. This may include regular exercise, maintaining a healthy diet, avoiding smoking and excessive alcohol consumption, and managing stress.
Psychological Support
Living with a CHD can be challenging, and individuals may experience anxiety, depression, or other mental health issues. Psychological support from a therapist, a support group, or other sources is vital.
Prevention of the Defects
Many CHD cannot be prevented, but there are ways to reduce risk.
Preconception Care
Preconception care refers to the care that women and men receive before they attempt to conceive a child.
This type of care includes various interventions to optimize maternal and fetal health before the pregnancy occurs.
Preconception care is especially important for women with a history of CHD or other chronic conditions that could affect pregnancy outcomes. Preconception care can involve:
Optimization of Chronic Conditions
Women with preexisting medical conditions such as diabetes or hypertension may need to work with their healthcare providers to optimize their health before pregnancy. This can involve changes to medication regimens, lifestyle modifications, and other interventions to improve maternal and fetal health.
Prenatal Care
Prenatal care is the type of care women receive during pregnancy. Prenatal care can help detect such defects early in pregnancy, allowing prompt intervention and management. Prenatal care can involve:
Routine Ultrasound Screenings
During routine prenatal visits, healthcare providers may perform an ultrasound to evaluate fetal development. This can help detect structural abnormalities like Septal, valves, and obstructive defects.
Prenatal Testing
In some cases, prenatal testing such as amniocentesis or chorionic villus sampling may be recommended. These tests can help detect genetic abnormalities associated with these heart conditions.
Genetic Counseling
Genetic counseling can be vital to preconception and prenatal care. Genetic counseling can help individuals understand their risk of passing on a genetic condition to their children and can provide information on options for prenatal diagnosis and management.
Genetic counseling may be recommended for individuals with a family history of such defects, those with known genetic risk factors, or those with a child with a heart defect present at the time of birth.
Prevention of Infections During Pregnancy
Some defects may be associated with infections during pregnancy. To reduce the risk of such defects, pregnant women should take steps to prevent infections during pregnancy. This can include:
Washing Hands Frequently
Regular hand washing can help reduce the risk of infections such as colds, flu, and other respiratory illnesses.
Avoiding Contact with Sick Individuals
Pregnant women should avoid contact with individuals who are sick, especially those who have contagious illnesses.
Getting Vaccinated
Pregnant women should talk to their healthcare providers about which vaccines are safe to receive during pregnancy.
In summary, while not all congenital heart conditions can be prevented, some steps can be taken to reduce the risk of their occurrence.
Conclusion
So, now you are aware that these defects are the most common congenital disabilities, affecting approximately 1% of newborns worldwide. Early diagnosis and treatment are crucial for managing these defects timely.
With advances in medical technology and treatments at the Patiala Heart Institute, many children and adults with such life-threatening defects can now lead fuller and more active life. For more information, book an appointment with us.
At what age does congenital heart disease begin?
Congenital heart disease usually begins during fetal development and is present at birth. Some forms of these may be diagnosed during pregnancy through routine prenatal screening, while others may not be detected until after birth. In some cases, such defects may be diagnosed later in childhood or even in adulthood, depending on the severity of the condition and the presence or absence of symptoms.
Can adults get congenital heart disease?
The majority of defects are diagnosed at birth or during childhood, adults can develop CHD-related complications or symptoms later in life. This can occur if the original defect was not fully corrected or if new complications arise due to aging or other health conditions. Additionally, some individuals with mild defects may not experience symptoms until adulthood.
What is the most common congenital heart disease?
There are many different types of defects, and the prevalence of each defect varies. Some of the most common forms of CHD include:
- Ventricular septal defect (VSD): A hole in the wall separating the heart's two lower chambers.
- Atrial septal defect (ASD): A hole in the wall separating the heart's two upper chambers.
- Tetralogy of Fallot: A combination of four heart defects that affects blood flow through the heart.
- Pulmonary stenosis: Narrowing of the valve that controls blood flow from the heart to the lungs
- Coarctation of the aorta: A narrowing of the aorta, the main artery that carries blood from the heart to the rest of the body.
Other forms of these defects include transposition of the great arteries, hypoplastic left heart syndrome, and Ebstein anomaly, among others.
