Tricuspid Atresia: Causes, Symptoms & Treatment

What is Tricuspid Atresia?

Tricuspid atresia is a congenital heart defect where the tricuspid valve, which controls blood flow between the right atrium and right ventricle, is either missing or undeveloped. This leads to inadequate oxygenation since blood cannot flow properly through the right side of the heart to the lungs.

According to the National Institutes of Health (NIH), tricuspid atresia occurs in approximately 1.2 per 10,000 live births and is the third most common cyanotic heart defect. Without early surgery, it has a high mortality rate, though survival after treatment reaches over 80% at one year.

Infants born with this condition depend on alternative pathways, such as a patent foramen ovale or ventricular septal defect (VSD), to circulate blood. Early detection and timely surgical intervention are crucial for survival.

Causes of Tricuspid Atresia

The exact cause of tricuspid atresia is not fully known, but it results from abnormal development of the tricuspid valve during early fetal growth, unrelated to maternal behavior or lifestyle.

• Genetic or chromosomal abnormalities: Certain mutations or chromosomal defects, such as Down syndrome or 22q11 deletion, may disrupt the genes responsible for heart valve formation, leading to structural defects.
• Maternal diabetes or rubella infection: Poorly controlled diabetes or rubella virus infection during early pregnancy can interfere with the normal development of the fetal heart and blood vessels.
• Exposure to certain medications or toxins: Some prescription drugs, alcohol, or environmental toxins during the first trimester may harm fetal cardiac tissue, increasing the risk of congenital defects.
• Family history of congenital heart disease: Parents or siblings with congenital heart defects slightly raise the likelihood of tricuspid atresia, though most cases occur sporadically without inheritance.

Genetic Factors and Inheritance

While most cases of tricuspid atresia occur sporadically, certain genetic factors may contribute to its development.

• Chromosomal anomalies: Conditions such as Down syndrome (trisomy 21) or 22q11 deletion syndrome have been occasionally associated with tricuspid atresia due to disruptions in cardiac morphogenesis.
• Single-gene mutations: Rare mutations in heart development genes like NKX2-5 and GATA4 can interfere with normal valve formation and chamber differentiation.
• Familial recurrence: Though uncommon, some families show an autosomal recessive pattern, suggesting a low but possible hereditary component.
• Genetic counseling: Families with a history of congenital heart disease may benefit from prenatal screening and counseling to evaluate recurrence risks and plan early intervention.

Symptoms of Tricuspid Atresia

Symptoms of tricuspid atresia usually appear soon after birth, as the defect prevents proper blood flow between the right atrium and ventricle, leading to low oxygen levels in the body. The severity and timing of symptoms depend on the degree of pulmonary obstruction and the presence of other associated heart defects. Early recognition of these signs is crucial, as timely diagnosis and medical intervention can significantly improve survival and quality of life.

Common Symptoms in Infants and Children

• Bluish skin tone (cyanosis): Caused by low oxygen levels in the blood, often noticeable on lips and fingertips.
• Fatigue or shortness of breath: Infants tire easily during feeding or crying due to reduced oxygen delivery.
• Poor weight gain or delayed growth: Inadequate oxygen and energy cause slower physical development.
• Rapid breathing and fast heartbeat: The heart and lungs work harder to maintain oxygen supply.
• Clubbing of fingers: Long-term low oxygen levels cause thickened fingertips.

In some cases, a heart murmur may be heard during a routine examination, leading to further diagnostic testing.

Diagnosis of Tricuspid Atresia

Diagnosing tricuspid atresia is vital for early detection and timely surgical intervention, as the condition can quickly lead to life-threatening oxygen deprivation in newborns. The process begins with clinical observation of symptoms such as cyanosis, rapid breathing, or poor feeding, which alert doctors to a possible congenital heart defect.

Once suspected, non-invasive imaging tests like echocardiography are performed to confirm the absence or underdevelopment of the tricuspid valve and to assess how blood flows through the heart. Supporting investigations, including pulse oximetry, chest X-ray, MRI, CT scan, and occasionally cardiac catheterization, help determine the severity of the defect and guide treatment planning. Early and accurate diagnosis ensures better surgical outcomes and improved long-term survival for affected infants.

Diagnostic Tests and Imaging Techniques for Tricuspid Atresia

Accurate diagnosis relies on a combination of non-invasive and imaging tests to assess heart structure, blood flow, and oxygen levels.

• Echocardiogram: The key diagnostic test that confirms the absence or underdevelopment of the tricuspid valve and evaluates blood movement between heart chambers.
• Pulse oximetry: A simple bedside test that measures oxygen saturation; persistently low levels suggest cyanosis.
• Chest X-ray: Reveals heart enlargement or abnormal lung blood flow patterns indicative of congenital defects.
• MRI: Offers high-resolution images of heart anatomy and function, aiding in surgical and treatment planning.
• CT scan: Produces 3D visualizations of the heart and major vessels to map structural abnormalities before surgery.
• Electrocardiogram (ECG) and cardiac catheterization: Used when needed to measure electrical activity, pressure, and oxygen content inside heart chambers.

Treatment Options for Tricuspid Atresia

There is no definitive medical cure for tricuspid atresia; treatment focuses on surgical correction to ensure proper blood circulation and oxygen delivery.

Before surgery, doctors may administer prostaglandin E1 to keep the ductus arteriosus open, allowing temporary blood flow to the lungs.

Surgical Treatment: The Fontan Circulation

The Fontan circulation is the definitive surgery for tricuspid atresia, performed in three stages to redirect blood flow and ensure oxygen-rich circulation.

• Stage 1 – Shunt procedure (newborn stage): A Blalock–Taussig shunt connects an artery to the lungs, improving oxygen supply.
• Stage 2 – Glenn procedure (around 4–6 months): The superior vena cava is connected to the pulmonary artery, sending upper body blood directly to the lungs.
• Stage 3 – Fontan Circulation (2–4 years): The inferior vena cava is routed to the pulmonary arteries, completing the separation of oxygen-poor and oxygen-rich blood.

This staged approach allows the left ventricle to function as the main pumping chamber, improving oxygen levels and overall heart efficiency.

Post-Surgery Care and Follow-Up

After the Fontan circulation, patients need ongoing medical supervision to ensure the heart adapts well and complications are prevented.

• Hospital recovery: Continuous monitoring of oxygen levels, heart rhythm, and fluid balance is done immediately after surgery.
• Medications: Blood thinners, diuretics, or heart rhythm drugs may be prescribed to support circulation and prevent clots.
• Regular check-ups: Routine echocardiograms, MRIs, or pulse oximetry tests track heart function and oxygen flow.
• Infection prevention: Good hygiene and antibiotic prophylaxis before dental or surgical procedures help prevent endocarditis.
• Long-term follow-up: Lifelong care with a cardiologist specializing in congenital heart disease is essential for monitoring Fontan circulation and maintaining overall heart health.

Lifestyle Adjustments and Prognosis

With timely surgical treatment and regular medical follow-up, most children with tricuspid atresia can lead active and fulfilling lives. However, lifelong cardiac care is essential to monitor heart function and prevent complications.

• Physical activity: Light to moderate exercises are encouraged, but strenuous sports should be avoided to reduce heart strain.
• Diet and nutrition: A balanced, heart-healthy diet rich in fruits, vegetables, and lean proteins supports overall cardiovascular health.
• Regular follow-ups: Routine visits to a cardiologist help track heart rhythm, oxygen levels, and surgical outcomes through tests like echocardiograms or MRIs.
• Infection prevention: Good dental hygiene and antibiotic prophylaxis before certain procedures reduce the risk of endocarditis.
• Vaccinations: Staying up to date with influenza and pneumococcal vaccines protects against infections that could stress the heart.

Living with Tricuspid Atresia: Long-Term Care

People with tricuspid atresia need lifelong follow-up to maintain heart health and manage post-surgical outcomes effectively.

• Regular heart evaluations: Periodic echocardiograms, MRI, or CT scans monitor heart function and detect early issues.
• Medication management: Some patients require anticoagulants or diuretics to support blood flow and prevent complications.
• Symptom awareness: Persistent fatigue, swelling, or irregular heartbeat should be promptly reported to a cardiologist.
• Healthy lifestyle: A balanced diet, moderate physical activity, and emotional support improve overall well-being.
• Specialized care transition: Continued follow-up with an adult congenital heart disease specialist ensures long-term stability and quality of life.

Conclusion

Tricuspid atresia, though complex, is manageable with early diagnosis, modern imaging, and staged surgery. With continuous care and medical monitoring, children born with this condition can lead fulfilling lives.

At Metropolis Healthcare, our advanced diagnostic infrastructure — including Echocardiogram, MRI, CT scans, Pulse Oximetry, and Chest X-ray — ensures accurate evaluation and reliable results.

With 4000+ tests, home sample collection across 10,000 touchpoints, quick turnaround times, and expert cardiology support, we help you make timely, informed health decisions for your loved ones.

FAQs

What are the first signs of Tricuspid Atresia?

Bluish skin, difficulty feeding, and poor growth soon after birth are early warning signs that warrant immediate medical evaluation.

Can Tricuspid Atresia be treated without surgery?

No. While medications stabilize oxygen levels, surgery is essential to restore effective circulation and prevent fatal complications.

What is the life expectancy for someone with Tricuspid Atresia?

With modern surgical care, over 80% of children survive into adulthood, though long-term complications may require lifelong monitoring.

Is Tricuspid Atresia hereditary?

Most cases are sporadic, but some involve genetic links. Families with a history of congenital heart disease should seek genetic counseling.

Can Tricuspid Atresia be detected before birth?

Yes. Fetal echocardiogram during pregnancy can detect structural heart defects like tricuspid atresia as early as the second trimester.