congenital heart deffects

What Is Congenital Heart Disease?

Congenital heart disease, or a congenital heart defect, is a heart abnormality present at birth. The problem can affect:
  • the heart walls
  • the heart valves
  • the blood vessels

There are numerous types of congenital heart defects. They can range from simple conditions that don’t cause symptoms to complex problems that cause severe, life-threatening symptoms.

According to the Centers for Disease Control and PreventionTrusted Source, there are currently 1 million adults and 1 million children in the United States living with congenital heart defects. Treatments and follow-up care for defects have improved drastically over the past few decades, so nearly all children with heart defects survive into adulthood. Some need continuous care for their heart defect throughout their lives. However, many go on to have active and productive lives despite their condition.

Types of Congenital Heart Disease

Though there are many different types of congenital heart defects, they can be divided into three main categories:
  • In heart valve defects, the valves inside the heart that direct blood flow may close up or leak. This interferes with the heart’s ability to pump blood correctly.
  • In heart wall defects, the natural walls that exist between the left and right sides and the upper and lower chambers of the heart may not develop correctly, causing blood to back up into the heart or to build up in places where it doesn’t belong. The defect puts pressure on the heart to work harder, which may result in high blood pressure.
  • In blood vessel defects, the arteries and veins that carry blood to the heart and back out to the body may not function correctly. This can reduce or block blood flow, leading to various health complications.

Cyanotic and Acyanotic Congenital Heart Disease

Many doctors classify congenital heart disease as either cyanotic congenital heart disease or acyanotic congenital heart disease. In both types, the heart isn’t pumping blood as efficiently as it should. The main difference is that cyanotic congenital heart disease causes low levels of oxygen in the blood, and acyanotic congenital heart disease doesn’t. Babies with reduced oxygen levels may experience breathlessness and a bluish tint to their skin. Babies who have enough oxygen in their blood don’t display these symptoms, but they may still develop complications later in life, such as high blood pressure.

What Are the Symptoms of Congenital Heart Disease?

A congenital heart defect is often detected during a pregnancy ultrasound. If your doctor hears an abnormal heartbeat, for instance, they may further investigate the issue by performing certain tests. These may include an echocardiogram, a chest X-ray, or an MRI scan. If a diagnosis is made, your doctor will make sure the appropriate specialists are available during delivery.

In some cases, the symptoms of a congenital heart defect may not appear until shortly after birth. Newborns with heart defects may experience:
  • bluish lips, skin, fingers, and toes
  • breathlessness or trouble breathing
  • feeding difficulties
  • low birth weight
  • chest pain
  • delayed growth

In other cases, the symptoms of a congenital heart defect may not appear until many years after birth. Once symptoms do develop, they may include:
  • abnormal heart rhythms
  • dizziness
  • trouble breathing
  • fainting
  • swelling
  • fatigue

What Causes Congenital Heart Disease?

Congenital heart disease occurs as a result of an early developmental problem in the heart’s structure. The defect typically interferes with the normal flow of blood through the heart, which may affect breathing. Although researchers aren’t exactly sure why the heart fails to develop correctly, suspected causes include the following:
  • The heart defect may run in families.
  • Taking certain prescription drugs during pregnancy puts a child at a higher risk for a heart defect.
  • Using alcohol or illegal drugs during pregnancy can increase a child’s risk of having a heart defect.
  • Mothers who had a viral infection during the first trimester of pregnancy are more likely to give birth to a child with a heart defect.
  • Increased blood sugar levels, such as occurs with diabetes, may affect childhood development.

How Is Congenital Heart Disease Treated?

The treatment for a congenital heart defect depends on the type and severity of the defect. Some babies have mild heart defects that heal on their own with time. Others may have severe defects that require extensive treatment. In these cases, treatment may include the following:

There are various medications that can help the heart work more efficiently. Some can also be used to prevent blood clots from forming or to control an irregular heartbeat.

Implantable Heart Devices

Some of the complications associated with congenital heart defects can be prevented with the use of certain devices, including pacemakers and implantable cardioverter defibrillators (ICDs). A pacemaker can help regulate an abnormal heart rate, and an ICD may correct life-threatening irregular heartbeats.

Catheter Procedures

Catheterization techniques allow doctors to repair certain congenital heart defects without surgically opening the chest and heart. During these procedures, the doctor will insert a thin tube into a vein in the leg and guide it up to the heart. Once the catheter is in the correct position, the doctor will use small tools threaded through the catheter to correct the defect.

Open-Heart Surgery

This type of surgery may be needed if catheter procedures aren’t enough to repair a congenital heart defect. A surgeon may perform open-heart surgery to close holes in the heart, repair heart valves, or widen blood vessels.

Heart Transplant

In the rare cases in which a congenital heart defect is too complex to fix, a heart transplant may be needed. During this procedure, the child’s heart is replaced with a healthy heart from a donor.

Congenital Heart Disease in Adults

Depending on the defect, diagnosis and treatment may begin shortly after birth, during childhood, or in adulthood. Some defects don’t cause any symptoms until the child becomes an adult, so diagnosis and treatment may be delayed. In these cases, the symptoms of a newly discovered congenital heart defect may include:
  • shortness of breath
  • chest pain
  • a reduced ability to exercise
  • being easily fatigued

The treatment for congenital heart disease in adults can also vary depending on the severity of the heart defect. Some people may only need to monitor their condition closely, and others may require medications and surgeries.

In some cases, defects that may have been treated in childhood can present problems again in adulthood. The original repair may no longer be effective or the initial defect may have become worse over time. Scar tissue that developed around the original repair may also end up causing problems, such as heart arrhythmias.

Regardless of your situation, it’s important to continue seeing your doctor for follow-up care. Treatment may not cure your condition, but it can help you maintain an active, productive life. It will also reduce your risk for serious complications, such as heart infections, heart failure, and stroke.

How Can Congenital Heart Disease Be Prevented?

Women who are pregnant or plan on becoming pregnant can take certain precautions to lower their risk of giving birth to a baby with a congenital heart defect:
  • If you’re planning on becoming pregnant, talk to your doctor about any prescription or over-the-counter medications you’re taking.
  • If you have diabetes, make sure your blood sugar levels are under control before becoming pregnant. It’s also important to work with your doctor to manage the disease while pregnant.
  • If you weren’t vaccinated against rubella, or German measles, avoid exposure to the disease and speak with your doctor about prevention options.
  • If you have a family history of congenital heart defects, ask your doctor about genetic screening. Certain genes may contribute to abnormal heart development.
  • Avoid drinking alcohol and using illegal drugs during pregnancy.

How the Drinking Habits of Fathers May Contribute to Birth Defects in Newborns

congenital heart disease in a child
A recent study suggests the lifestyle habits of fathers may contribute to the chances of birth defects in newborns. 

According to an observational study in 529,090 couples, there was a 35 percent increase in the chance of birth defects in newborns if the father regularly drank alcohol in the 6 months leading to conception.
The types of birth defects tracked in the study included congenital heart disease, limb anomalies, clefts, digestive tract anomalies, gastroschisis, and neural tube defects.
Experts note several limitations to the study, including the fact that it did not track the amount of alcohol consumed before conception.

New evidence suggests a link between paternal alcohol consumption before conception and the chances of fetal birth defects.

The studyTrusted Source, published in JAMA Pediatrics on April 19, found that paternal drinking is associated with an increased risk of sperm abnormalities, which could lead to defects like congenital heart disease, limb anomalies, clefts, and digestive tract anomalies.

The association between alcohol consumption and birth defects has been most closely studied in mothers, but researchers have recently started taking a closer look at how paternal drinking affects babies.

The study adds to a growing pile of evidence that paternal alcohol consumption can potentially negatively affect the health of the baby.

It’s unclear why paternal drinking may lead to birth defects, but early evidence suggests alcohol changes the shape, size, and motility of sperm and could also alter the DNA that’s passed down to children.

Overall, the chances of birth defects remain low, regardless of alcohol consumption.

“This study raises questions that maybe both partners should be equally responsible in terms of when they are planning to create the new life,” said Dr. Lubna Pal, a Yale Medicine reproductive endocrinologist and professor of obstetrics, gynecology, and reproductive services at Yale School of Medicine.

Birth defects more commonly reported by fathers who drink alcohol

The researchers recruited 529,090 couples who were planning to become pregnant within 6 months.

Of the participating couples, 364,939 fathers did not drink alcohol before conception (defined as at least one time drinking a week) and 164,151 did.

The research team then tracked the rate of birth defects reported by parents 42 days after the baby was born.

Overall, 609 total birth defects were reported, including congenital heart disease, limb anomalies, clefts, digestive tract anomalies, gastroschisis, and neural tube defects.

Among the fathers who consumed alcohol, there were 363 birth defects. Among the fathers who did not consume alcohol, there were 246 birth defects.

The research team found that babies had a 35 percent greater chance of having a birth defect if their father regularly drank once a week or more in the 6 months leading up to conception.

In addition, babies had a 55 percent greater chance of developing clefts if their father drank regularly before conception.

According to the researchers, the epidemiological evidence suggests paternal drinking before conception can damage the sperm cells and increase the chances of birth defects.

The researchers also suggest the findings should inform guidance on paternal drinking to help reduce the chances of defects.

The study does not confirm a direct link, but it does raise questions that there may be preventable strategies that both partners can take to improve the health of the baby, according to Pal.

Why might paternal drinking have this impact?

Research on paternal drinking has historically focused on the effects of maternal alcohol consumption.

Mothers have historically been advised against drinking before conception, but guidance for paternal drinking before conception has been scarce.

“Fertility is a team sport. There are two players involved, but the burden has disproportionately fallen on women for [the] longest time,” Pal said.

A 2020 review of 55 studies also found a strong correlation between paternal drinking and babies being born with a birth defect like congenital heart disease (CHD).

According to that study, drinking alcohol within 3 months of conception was linked to a 44 percent higher chance of CHD. Furthermore, the risk appeared to be greatest in fathers who drank heavily.

It’s unclear why paternal drinking may be linked to a higher rate of birth defects.

Past evidence suggests alcohol affects the size, motility, and shape of sperm cells. Other researchTrusted Source suggests exposure to alcohol can alter the father’s DNA and be inherited by the offspring.

Early evidenceTrusted Source suggests the effects are not permanent, and it might only take 3 months for the sperm to become healthy again once the alcohol consumption stops.

More research is needed to understand the link

This new observational study raises questions that there might be a link between the father’s lifestyle choices before conception and the health of the baby.

But much more research is needed to explore the potential mechanisms at play along with other contributing factors.

Dr. Boback Berookhim, the director of male fertility and microsurgery at Lenox Hill Hospital, would like to see more data on how much alcohol the fathers consumed before conception.

“It would be very important to know how much is too much — a question which is not answered here,” Berookhim said.

Given the overall low rate of birth defects, even in fathers who consumed alcohol, more data is needed to determine whether alcohol abstinence before conception is beneficial, according to Berookhim.

“I tell potential fathers to moderate the alcohol intake but do not suggest complete abstinence,” Berookhim said.

The bottom line

New evidence has found a link between paternal alcohol consumption before conception and the chances of fetal birth defects.

Fathers who drink alcohol regularly before conception are associated with greater chances of birth defects like congenital heart disease, limb anomalies, clefts, and digestive tract anomalies.

It’s unclear why alcohol may cause birth defects, but early evidence suggests alcohol changes the shape, size, and motility of sperm and could also alter the DNA.

More research is needed to understand the link between paternal drinking and birth defects.