Congenital Heart Defects

What are congenital heart defects?

From: MedlinePlus, National Library of Medicine

Congenital heart defects (CHDs) are problems with the structure of the heart. "Congenital" means that that the problems are present at birth. These defects happen when a fetus's heart doesn't develop normally during pregnancy. Congenital heart defects are the most common type of birth defect.

Congenital heart defects can change the way the heart pumps blood. They may make blood flow too slowly, go the wrong way, or block it completely.

There are many types of congenital heart defects. They can happen in one or more parts of the heart. The most common types are:

• Septal defects ("hole in the heart") - openings in the wall between the left and right sides of the heart
• Heart valve defects - problems with the valves that control the flow of blood through the heart
• Defects in the large blood vessels that carry blood in and out of the heart

Congenital heart defects can range from very mild problems that never need treatment to life-threatening problems at birth. The most serious congenital heart defects are called critical congenital heart disease. Babies with these defects usually need surgery in the first year of life. But the symptoms of milder heart defects may not show up until childhood or adulthood.

What causes congenital heart defects?

From: MedlinePlus, National Library of Medicine

Researchers often don't know what causes congenital heart defects. They do know that changes in a baby's genes sometimes cause a heart defect. The changed genes may come from the parents, or the changes may happen during pregnancy.

Who is more likely to have a baby with a congenital heart defect?

From: MedlinePlus, National Library of Medicine

Several things may increase the chance that your baby has a congenital heart defect, such as:

• Your health before and during pregnancy, including: Having diabetes before pregnancy or developing it in the first 3 months of pregnancy (diabetes that develops later in pregnancy isn't a major risk for heart defects). Carefully controlling your blood glucose, also called blood sugar, before and during pregnancy can lower your baby's risk of congenital heart defects. Having phenylketonuria (PKU), a rare inherited disorder that affects how the body uses a protein in foods. If you have PKU, eating a low-protein diet before getting pregnant can lower your baby's risk of having a congenital heart defect. Having rubella (German measles) during pregnancy.
• Your contact with certain substances during pregnancy, including: Smoking or secondhand smoke (breathing smoke from another smoker). Certain medicines, such as angiotensin-converting (ACE) inhibitors for high blood pressure and retinoic acids for acne. If you're pregnant or plan to get pregnant, talk with your health care provider about all the medicines you take.
• Your family history and genetics. In most cases, congenital heart defects don't run in families. But your chance of having a baby with a congenital heart defect does go up if you or the other parent has a congenital heart defect, or if you already have a child with a congenital heart defect.

What are the symptoms of congenital heart defects?

From: MedlinePlus, National Library of Medicine

Congenital heart defects don't cause pain. The signs and symptoms are different, depending on the type and number of defects and how serious they are.

Common signs and symptoms of congenital heart defects include:

• Cyanosis - a bluish color to the skin, lips, and fingernails. It happens when there isn't enough oxygen in the blood.
• Fatigue - your baby may be unusually sleepy and may become very tired during feedings.
• Poor blood flow.
• Fast or difficult breathing.
• Heart murmur - an unusual sound between heartbeats.

What other problems do congenital heart defects cause?

From: MedlinePlus, National Library of Medicine

Congenital heart defects don't always cause other problems. If they do, which problems you have would depend on the type and number of defects and how serious the defects are.

Children with congenital heart defects are more likely to:

People with congenital heart defects may develop other health conditions, including:

• Be smaller than other children
• Have problems or delays in mental, and emotional growth, and behavior, such as: Speech and language problems Attention deficit hyperactivity disorder (ADHD)
• Endocarditis - an infection of lining of the heart and valves
• Arrhythmia - a problem with the rate or rhythm of your heartbeat
• Heart failure - when your heart can't pump enough blood to the body
• Pulmonary hypertension - high blood pressure in your lungs
• Kidney and liver disease

How are congenital heart defects diagnosed?

From: MedlinePlus, National Library of Medicine

• Before a baby is born, your provider may use ultrasound pictures of the fetus's heart to look for heart defects. This is called a fetal echocardiogram. It's done between weeks 18 and 22 of pregnancy.
• During the first few days after birth, all newborns are checked for congenital heart defects. A pulse oximeter is clipped to your baby's hands or feet to measure blood oxygen. If it shows low levels of blood oxygen, more tests will be needed to find out if your baby has a heart defect.
• To diagnose congenital heart defects in babies, children, and adults, a provider may use many tools, including: A physical exam. Certain heart tests to see how the heart is working. Genetic testing to see if certain gene problems caused the defect.

What are the treatments for congenital heart defects?

From: MedlinePlus, National Library of Medicine

Treatment depends on the type of congenital heart defect and how serious it is. Possible treatments include:

• Cardiac catheterization to repair simple defects, such as a small hole in the inside wall of the heart. A catheterization uses a thin tube guided through a vein and into the heart.
• Heart surgery may be needed to: Repair defects in the heart and blood vessels. Repair or replace a heart valve. Place a device in the chest to help the heart pump blood. Do a heart transplant
• Medicine is often used if your baby has a specific type of congenital heart defect called patent ductus arteriosus.

All children and adults who have congenital heart defects need regular follow-up care from a cardiologist (a doctor who specializes in heart diseases) throughout their life, even if their defect was repaired.

Some people may need several heart surgeries or catheterizations over the years. They may also need to take medicines to help their hearts work as well as possible.

Which doctor should you see?

The suggested department for discussing Congenital Heart Defects is Cardiology, with a cardiologist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Is the main concern heart structure, rhythm, circulation or another cause?
• Which symptoms should change the timing of follow-up?
• How would a proposed investigation change the care plan?

Treatment discussions and follow-up

Where the source describes treatments, these are an overview of possible care, not a prescription for an individual. Ask which option applies to the confirmed diagnosis, what benefit is expected, what adverse effects to watch for and how progress will be assessed. Availability, approvals and local practice can differ from the country described in the source.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.