A hole in the heart is a nonmedical term that describes a hole that forms between parts of the heart. There are many types of holes in the heart, some of which may develop before birth.

Rarely, holes in the heart can form after birth. For example, they can develop during a heart attack or after a medical procedure. Atrial septal abnormalities, where a hole develops in the heart’s septum, are quite common in children.

While experts do not know what causes holes in the heart, genetics can often be a factor. However, other factors may also influence the development of these heart abnormalities.

People may experience symptoms according to the type of hole they have in the heart. While they may not necessarily require treatment, those causing symptoms or complications may require surgery.

Keep reading to learn more about holes in the heart, including the different types, risk factors, symptoms, diagnosis, and treatments.

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A hole in the heart is a congenital heart abnormality. Various kinds of holes can develop in the heart, including the below.

Patent foramen ovale (PFO)

During development, all fetuses have a natural hole in the heart.

However, in some fetuses, the hole does not close until some time after birth. This is called a PFO, and about 20 to 25% of adults have it.

Atrial septal abnormalities

Atrial septal abnormalities refer to a hole between the atria, which are the upper chambers of the heart.

The hole forms in the septum, the wall that separates the heart’s chambers. It can sometimes remain when the fetus’s heart forms and the septum does not close completely.

There are a few different types of atrial septal abnormalities, including:

  • primum, which develops near the bottom of the septal wall
  • secondum, which occurs near the middle of the septal wall
  • multifenestrated, which consists of several holes in the septal wall
  • sinus venosus, which appears near the superior and inferior vena cava

According to the Centers for Disease Control (CDC), about 1 in every 1,859 infants born in the U.S each year are born with atrial septal abnormalities.

Ventricular septal abnormalities

This abnormality refers to a hole in the wall separating the ventricles of the heart. There are several different types of ventricular septal abnormalities, including:

  • muscular, where holes in the muscular tissue between ventricles cause a heart murmur
  • perimembranous, which appear near the middle of the heart
  • outlet and supracristal, which develop near the aorta or pulmonary arteries
  • post-infarction, holes that develop after a heart attack

Experts do not know what causes most congenital heart abnormalities. However, genetics often play a role, and some may be more common in people with a family history of the condition or with chromosomal abnormalities.

Environmental factors may also affect heart development. For example, pregnant people who have exposure to certain chemicals or drugs may be more likely to give birth to infants with heart abnormalities.

Substances that may pose a risk include:

Pregnant people with the following medical conditions may also be at higher risk of having a baby with a congenital heart abnormality:

  • preexisting diabetes
  • rubella
  • maternal phenylketonuria, where a pregnant individual’s body cannot process an amino acid called phenylalanine
  • lupus

A hole in the heart can lead to the mixing of oxygenated and deoxygenated blood. This may put stress on the side of the heart that is getting more blood flow than expected, which may cause a condition called cyanosis. Cyanosis refers to skin discoloration resulting from circulation issues of oxygenated blood.

Additionally, a stroke or a transient ischemic attack — known as a mini stroke — can occur if blood skips the lungs and moves straight to the arterial side through the atrial septal abnormality or PFO.

However, not all holes in the heart cause apparent symptoms. Some people may experience them, depending on the type they have.

Ventricular and atrial septal abnormalities

A small or minor ventricular or atrial septal abnormality may not put excess strain on the heart and lungs, and a heart murmur may be the only detectable sign. However, a large hole may cause symptoms.

Large holes will typically cause noticeable symptoms in infants and babies. Because they strain the heart, they can cause:

  • rapid breathing
  • failure to thrive, which refers to issues with growing, gaining, or maintaining weight as individuals develop
  • high blood pressure

Most of the time, doctors identify and treat large septal abnormalities during infancy. But if someone has a large septal abnormality as an adult, they may experience shortness of breath.

Tetralogy of Fallot is a serious condition that refers to four structural abnormalities in the heart. It can cause episodes of cyanosis, where the skin turns blue or gray.

PFOs

Most PFOs do not cause noticeable symptoms or cause significant problems. Potential conditions relating to PFO include:

A doctor who suspects a hole in the heart may order one or more of the following tests to make a diagnosis:

  • an echocardiogram of the chest
  • a cardiac CT
  • a cardiac MRI
  • a chest X-ray
  • an exercise stress test for adults
  • transesophageal echocardiogram, which uses sound waves to take clear pictures of the heart

Testing for congenital heart abnormalities is part of routine screening after birth.

During pregnancy

Doctors may also diagnose congenital heart abnormalities during pregnancy using a fetal echocardiogram. This test allows them to see the heart of the fetus. They may perform this test if the pregnant person:

  • has a family history of congenital heart abnormalities
  • has a health condition that puts the fetus at higher risk for heart abnormalities
  • takes medications that can increase the risk of heart abnormalities

They may also perform the test if they detect any abnormalities during a routine ultrasound.

Treatment depends on:

  • the type of hole
  • location of the hole
  • the person’s age
  • whether the person is experiencing symptoms

For example, a small ventricular septal abnormality may not require treatment if it causes no noticeable symptoms.

Some may even close over time. For example, atrial septal abnormalities of under five millimeters tend to close on their own within the first year of an infant’s life.

Large holes or holes causing symptoms may require surgery. In infants, surgeons may place a temporary patch before performing a more invasive heart surgery when the child becomes older. More invasive surgery may occur if the infant has serious symptoms.

In some cases, surgeons can close the hole without a patch. For large holes, they may use a device to block the hole. For PFO, treatment usually involves closure with an amplatzer device, a mesh implant.

Survival rates depend largely on the severity of the hole in the heart.

According to the Centers for Disease Control and Prevention (CDC), about 97% of infants with nonserious types of congenital heart abnormalities survive for at least a year. Additionally, health experts predict that around 95% of infants with these abnormalities will live to 18 years of age.

However, 75% of those born with serious heart abnormalities tend to survive at least one year, with 69% expected to survive until adulthood.

Generally, the survival and medical interventions for infants with serious congenital heart abnormalities are improving.

One 2022 study involving 427 people with atrial septal abnormalities found that people tend to live longer following hole repair.

Complications may vary substantially, depending on the type of hole in the heart and its size.

With atrial septal abnormalities, possible complications may include:

With ventricular septal abnormalities, possible complications may include:

However, complications are generally rare with small and repaired holes.

A hole in the heart typically forms before birth and may close on its own afterward. However, some holes may remain and cause symptoms or lead to complications.

Symptom severity can vary depending on the size and location of the hole. Doctors often detect holes in the heart during pregnancy or not long after birth.

Some people only find out they have a hole in their heart when they are well into their adulthood. They may start experiencing symptoms, or their doctor may detect a murmur during a routine exam.

Treatment may require surgery, but this depends mainly on the size of the hole and whether it is causing symptoms.