Hole in Heart: Types, Symptoms, Causes and Treatment

A hole in the heart is one of the most common congenital heart defects. While the survival rates for hearts with holes might sound alarming, they are remarkably encouraging. A hole occurs when there are abnormal openings in the walls between heart chambers.
This article explores the various types of heart holes, their symptoms, causes, and hole-in-a-heart treatment options to help readers better understand this common cardiac condition.

Types of Hole in the Heart Conditions

Doctors diagnose three main types of heart holes in patients: 

• Atrial Septal Defect (ASD): An atrial septal defect is a hole between the heart's two upper chambers (atria). This defect allows oxygen-rich blood to leak from the left atrium into the oxygen-poor blood in the right atrium. ASDs can be further categorised into four distinct types:
  • Secundum ASD: The most common type, occurring in the middle part of the atrial septum
  • Primum ASD: Located in the lower part of the atrial septum, near the tricuspid & mitral valves
  • Sinus venosus ASD: Found in the upper part of the atrial septum, close to veins flowing into the right atrium
  • Coronary sinus ASD: The rarest form, creating an opening between the coronary sinus & left atrium
• Ventricular Septal Defect (VSD): A ventricular septal defect is a hole between the heart's two lower chambers (ventricles). With VSDs, blood flows from the left ventricle into the right ventricle due to pressure differences. VSDs come in four main varieties:
  • Membranous VSD: The most common type, located in the upper section of the ventricular wall
  • Muscular VSD: Occurs in the lower part of the wall, frequently presenting as multiple holes
  • Inlet VSD: Positioned just below the heart valves, where blood enters the ventricles
  • Outlet VSD: Located near the pulmonary and aortic valves, where blood exits the ventricles
• Patent Foramen Ovale (PFO): Unlike other heart holes, a patent foramen ovale is actually a remnant of normal foetal circulation. Before birth, all babies have this small flap-like opening that typically closes shortly after birth. However, it remains open in approximately 25% of adults worldwide. Most people with PFO never require treatment since it rarely causes symptoms or health problems.

Symptoms of Hole in the Heart

• For newborns and infants: Babies might show poor eating habits, struggle to gain weight (failure to thrive), and breathe rapidly or with difficulty. Additionally, parents might notice excessive sweating while feeding and frequent respiratory infections. During medical check-ups, doctors often detect a heart murmur—a whooshing sound heard between heartbeats when listening with a stethoscope.
• Children: They may tire quickly during physical activity. They might also experience shortness of breath during exercise and have slower physical growth compared to peers. In some cases, rapid breathing patterns emerge even when resting.
• For adults living with undetected or untreated heart holes, common symptoms include:
  • Shortness of breath, especially during physical exertion
  • Fatigue or feeling constantly tired
  • Irregular heartbeats (arrhythmias)
  • Heart palpitations—feelings of a quick, pounding, or fluttering heartbeat
  • Swelling in the legs, feet, or abdomen area

Causes  and Risk Factors of Holes in the Heart

Hole development in the heart primarily occurs during foetal development, when the heart's structures are forming. Most of these defects happen because of problems during the early stages of heart development, often before a woman even knows she is pregnant.

• Genetic Factors: Genetic mutations play a significant role in many cases of heart holes. Children with certain genetic disorders face a higher risk of developing these defects. For example:
  • Down syndrome (trisomy 21) increases the likelihood of atrial and ventricular septal defects
  • DiGeorge syndrome (22q11.2 deletion syndrome) often involves ventricular septal defects
  • Turner syndrome commonly includes various heart defects, particularly involving heart valves
• Environmental Factors: Several environmental influences during pregnancy can increase the risk of heart holes:
  • Poorly controlled maternal diabetes during pregnancy
  • Certain medications taken during pregnancy, particularly some anti-seizure drugs and blood thinners
  • Alcohol consumption during pregnancy
  • Smoking during pregnancy
  • Viral infections, specifically rubella (German measles), in early pregnancy
• Maternal Health Conditions: A mother's health status can affect foetal heart development. Risk increases with:
  • Advanced maternal age (over 40)
  • Obesity before or during pregnancy
  • Untreated phenylketonuria (PKU)
  • Lupus or other autoimmune conditions
• Family History: Having a parent or sibling with a congenital heart defect increases a child's risk. Although most cases of heart holes happen without any family history, the risk does rise if close family members have had heart defects.
• Acquired Causes: Not all holes in the heart are present at birth. Throughout life, heart attacks can occasionally create ventricular septal defects by damaging heart tissue. Specific medical procedures or trauma to the chest may rarely result in acquired heart holes.

Complications of Hole in Heart

Heart failure ranks among the most common complications. A heart with a medium or large ventricular septal defect works harder than normal, and the lungs receive excessive blood flow. Without proper treatment, the heart eventually becomes unable to pump efficiently.

Over time, an unrepaired hole can lead to Eisenmenger syndrome, a severe condition that develops after many years. This occurs when irregular blood flow causes lung vessels to become stiff and narrow. Blood pressure rises in the lung arteries, creating a condition called pulmonary hypertension that permanently damages lung blood vessels.

Endocarditis, a rare but serious infection that causes life-threatening inflammation of the heart's inner lining, can also develop in patients with heart holes.
Additional complications include:

• Heart valve problems and irregular heart rhythms (arrhythmias)
• Stroke risk due to blood clots forming inside the heart
• Recurrent respiratory infections 
• Impaired physical growth 
• Developmental delays

Diagnosis

Echocardiography stands as the primary diagnostic tool for identifying heart holes. This painless test creates detailed images of the beating heart, revealing its structure, chambers, valves, and blood flow patterns. Doctors frequently employ this method because it provides comprehensive information without using radiation.

When additional information is needed, physicians may request:

• Electrocardiogram (ECG or EKG) 
• Chest X-ray 
• Pulse oximetry 
• Cardiac MRI 
• CT scan 
• Cardiac catheterisation

Treatment

Not all heart holes require intervention, as many small holes in the heart close naturally without treatment. When treatment becomes necessary, doctors consider various approaches:

• Medication Management: Medicines don't repair the hole itself but help manage symptoms and prevent complications:
  • Diuretics (water pills) to reduce fluid buildup and strain on the heart
  • Blood thinners (anticoagulants) to decrease the risk of blood clots
  • Beta-blockers to control irregular heartbeats
  • Oxygen therapy, in some cases
• Catheter-based Procedures: These minimally invasive treatments have largely replaced surgery for many patients:
  • A thin, flexible tube (catheter) is inserted through a blood vessel in the groin
  • The catheter delivers a mesh patch or plug to close the hole
  • Heart tissue gradually grows around the device, permanently sealing the opening
  • Patients typically go home the next day with no surgical scars
• Surgical Repair: Open-heart surgery remains necessary for certain defects:
  • The surgeon accesses the heart through the chest
  • The heart-lung machine maintains circulation during the repair
  • The hole is closed using patches or stitches
  • Recovery requires several days in the hospital

When to See a Doctor

Seek immediate emergency help if:

• A child experiences chest pain
• Breathing becomes severely difficult
• You notice a bluish colour of the skin, lips, or under the fingernails
• Fainting occurs, especially during physical activity
• A child has unusual or unexplained sweating

These symptoms might indicate serious complications that require urgent medical intervention.

Conclusion

Understanding holes in the heart remains essential for both patients and their families. Though this condition affects many newborns, medical advances have made successful treatment possible in most cases. Small defects often close naturally, while larger ones can be treated through medication, catheter-based procedures, or surgery.

Early detection plays a critical role in successful treatment outcomes. Parents should watch for warning signs in their children, such as difficulty breathing, poor weight gain, or unusual fatigue. Adults with undiagnosed heart holes should pay attention to symptoms like shortness of breath or persistent tiredness.

FAQs

1. How serious is a hole in your heart?

The seriousness of a heart hole depends largely on its size, location, and type. Small defects often cause no problems and may never require treatment. On the other hand, larger holes can lead to substantial complications if left untreated.  

2. Can a hole in the heart be cured?

Many small heart holes close naturally without intervention, especially in children. For those that don't close spontaneously:

• Medications can manage symptoms but cannot cure the hole
• Catheter-based procedures can close certain defects without open surgery
• Surgical repair may be essential for larger or more complex defects

3. Is heart hole surgery safe?

Heart hole surgery is typically safe and effective, albeit carrying some risks. Possible complications include:

• Bleeding requiring blood transfusion
• Infection around the closure device
• Abnormal heart rhythms
• Rare but serious issues like kidney failure or stroke

4. Can an ECG detect heart holes?

An electrocardiogram (ECG) alone cannot definitively diagnose heart holes. Whereas it can detect abnormal heart patterns suggesting a defect, an echocardiogram remains the gold standard for diagnosis. 

5. What can I avoid if you have a hole in your heart?

People with heart holes should typically:

• Discuss physical activity restrictions with their cardiologist—most can participate in some if not all, activities
• Take antibiotics before dental procedures to prevent heart infections
• Consult doctors before becoming pregnant
• Inform all doctors about their condition before any surgery
• Use caution if taking anticoagulant medications