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Tricuspid atresia

Updated : May 27, 2024





Background

  • Tricuspid atresia is a congenital heart defect (CHD) that affects the development of the heart during fetal growth. In a normal heart, blood flows through four chambers: two atria and two ventricles, with valves regulating the flow between these chambers. Tricuspid atresia specifically involves a problem with the tricuspid valve, which is located between the right ventricle and the right atrium. 
  • In individuals with tricuspid atresia, the tricuspid valve is either missing or abnormally developed, preventing blood from flowing properly between the right atrium and the right ventricle. As a result, blood cannot pass through the right side of the heart and reach the lungs for oxygenation. Instead, an alternative pathway for blood to reach the lungs must develop to ensure adequate oxygenation of the blood. 

Several associated anomalies often accompany tricuspid atresia, including: 

  • Atrial Septal Defect (ASD): This is a hole in the wall (septum) between the two atria, allowing some mixing of oxygenated and deoxygenated blood. 
  • Ventricular Septal Defect (VSD): This is a hole in the septum between the two ventricles, which further contributes to the mixing of blood. 
  • Hypoplastic Right Ventricle: The right ventricle may be underdeveloped due to the lack of blood flow, making it less effective in pumping blood to the lungs. 
  • Abnormal Development of the Pulmonary Arteries: The vessels that carry blood to the lungs may be underdeveloped, requiring surgical intervention to improve blood flow. 

Children born with tricuspid atresia typically exhibit cyanosis (bluish tint to the skin) due to inadequate oxygenation of the blood. Prompt medical attention is essential, and treatment often involves surgical intervention to create a new pathway for blood flow or to modify existing structures to improve oxygenation. 

Epidemiology

  • Incidence: Tricuspid atresia is less common compared to other congenital heart defects. The incidence is estimated to be around 1 in 10,000 live births. 
  • Gender and Race: There does not appear to be a significant gender preference, and tricuspid atresia affects both males and females equally. The prevalence may vary among different racial and ethnic groups, but specific patterns can be challenging to establish. 
  • Association with Other Anomalies: Tricuspid atresia often occurs with other cardiac anomalies, such as atrial septal defects (ASD), ventricular septal defects (VSD), and abnormalities in the pulmonary arteries and valves. 
  • Genetic Factors: Some cases of tricuspid atresia may have a genetic component, and there is evidence of a higher prevalence among individuals with a family history of congenital heart defects. Environmental factors, maternal health, and specific genetic syndromes may contribute to the development of tricuspid atresia. 
  • Advances in Prenatal Diagnosis: Advances in prenatal screening and diagnostic techniques, such as fetal echocardiography, have improved the ability to detect tricuspid atresia during pregnancy. 

Anatomy

Pathophysiology

Absent or Underdeveloped Tricuspid Valve: 

  • The tricuspid valve, which is usually located between the right atrium and the right ventricle, is either absent or underdeveloped. 
  • The absence or malformation of the tricuspid valve obstructs the normal flow of blood from the right atrium to the right ventricle. 

Hypoplastic Right Ventricle: 

  • The right ventricle may be hypoplastic or undeveloped as a result of the blood supply across the tricuspid valve not being present. 
  • The hypoplastic right ventricle is less effective in pumping blood to the lungs for oxygenation. 

Cyanosis and Mixing of Blood: 

  • Since blood cannot flow through the normal pathway to the lungs, there is a mixing of oxygenated and deoxygenated blood within the heart. 
  • This leads to cyanosis, a bluish discoloration of the skin and mucous membranes, as insufficient oxygenated blood is pumped into the body. 

Atrial Septal Defect (ASD) and Ventricular Septal Defect (VSD): 

  • To enable some mixing of blood and improve oxygenation, individuals with tricuspid atresia often have associated atrial septal defects (ASD) and ventricular septal defects (VSD). 
  • The septal defects allow blood to move between the atria and ventricles, facilitating a partial mixing of oxygenated and deoxygenated blood. 

Alternative Pathways for Blood Flow: 

  • In order to ensure oxygenation of the blood, the body often develops alternative pathways for blood flow. 
  • One common adaptation is the development of a communication (ductus arteriosus) between the pulmonary artery and the aorta, allowing some oxygenated blood to bypass the right heart and flow directly to the body. 

Surgical Interventions: 

  • Treatment typically involves surgical interventions to improve blood flow. The specific approach depends on the individual’s unique anatomy. 
  • Staged surgical procedures may be performed to reroute blood flow, create connections between the heart chambers, and address associated anomalies. 

Etiology

Genetic Factors: 

  • There is evidence of a genetic predisposition to congenital heart defects, including tricuspid atresia. Mutations in specific genes involved in cardiac development may play a role. 
  • Some cases of tricuspid atresia occur in families, suggesting a potential genetic component. 

Maternal Factors: 

  • Congenital cardiac abnormalities can occur as a result of factors related to the mother during pregnancy. Conditions such as diabetes and certain medications taken during pregnancy may increase the likelihood of tricuspid atresia. 
  • Exposure to environmental factors, toxins, or infections during pregnancy may also play a role. 

Fetal Developmental Factors: 

  • Tricuspid atresia results from abnormal development during fetal growth. Disruptions in the intricate process of heart development can lead to structural abnormalities, including the absence or underdevelopment of the tricuspid valve. 

Unknown Causes: 

  • In many cases, the specific cause of tricuspid atresia remains unknown. It is difficult to identify a single cause during the early stages of embryonic development due to the intricate interactions between genetic and environmental influences. 

Associated Anomalies: 

Tricuspid atresia is often associated with other cardiac anomalies, such as atrial septal defects (ASD), ventricular septal defects (VSD), and abnormalities in the pulmonary arteries and valves. These additional anomalies may contribute to the overall pathophysiology. 

Genetics

Prognostic Factors

  • Anatomical Variations: The specific anatomy of the heart in tricuspid atresia varies among individuals. The degree of underdevelopment of the right ventricle, the presence of associated anomalies, and the overall complexity of the cardiac anatomy can influence the prognosis. 
  • Associated Cardiac Anomalies: Tricuspid atresia is often associated with other cardiac defects, such as atrial septal defects (ASD), ventricular septal defects (VSD), and abnormalities in the pulmonary arteries and valves. The degree and existence of specific related abnormalities may impact the overall prognosis. 
  • Pulmonary Artery Development: Abnormalities in the development of the pulmonary arteries can impact blood flow to the lungs. The degree of hypoplasia or stenosis in the pulmonary arteries can influence the prognosis. 
  • Response to Surgical Interventions: Surgical interventions are often necessary to redirect blood flow and address the underlying issues in tricuspid atresia. The success of these surgical procedures and the ability to establish effective circulation can significantly impact the prognosis. 
  • Timing of Surgical Interventions: The timing of surgical interventions, including the number and complexity of procedures performed, can influence the long-term prognosis. Some individuals may undergo staged surgeries to improve blood flow gradually. 
  • Complications: Complications such as arrhythmias, heart failure, and infections can affect the overall prognosis. Regular medical monitoring and prompt management of complications are essential. 
  • Overall Health and Function: The general health of the individual, including factors such as nutritional status and respiratory function, can impact the prognosis. 
  • Quality of Life: The long-term quality of life for individuals with tricuspid atresia depends on the successful management of the condition, the ability to maintain adequate oxygenation, and the prevention or timely treatment of complications. 

Clinical History

The clinical presentation of tricuspid atresia can vary based on the age of the individual and the presence of associated anomalies.  

Newborns and Infants: 

  • Cyanosis: Newborns with tricuspid atresia often present with cyanosis due to inadequate oxygenation of the blood. 
  • Difficulty in Breathing: Rapid breathing (tachypnea) and difficulty in feeding may be observed. 
  • Delayed Diagnosis: Diagnosis may occur shortly after birth, primarily if routine newborn screening identifies cyanosis or other signs of heart abnormalities. 

Early Childhood: 

  • Cyanosis Persists: Cyanosis continues to be a prominent feature. 
  • Growth and Development: Children may exhibit delayed growth and development, mainly if there are associated cardiac anomalies impacting overall cardiac function. 

Older Children and Adolescents: 

  • Exercise Intolerance: As children grow and become more active, those with tricuspid atresia may show signs of exercise intolerance due to limited oxygen supply to the body. 
  • Clubbing of Fingers and Toes: Chronic hypoxia can lead to clubbing of fingers and toes. 
  • Symptoms of Heart Failure: In some cases, symptoms of heart failure, such as fatigue, rapid heart rate, and respiratory distress, may become more evident. 

 Adulthood: 

  • Continued Cyanosis: Cyanosis typically persists into adulthood. 
  • Risk of Complications: Individuals may face an increased risk of complications such as arrhythmias, heart failure, and infections. 
  • Pregnancy Considerations: Women with tricuspid atresia need careful monitoring and management during pregnancy due to the increased strain on the cardiovascular system. 

Physical Examination

  • Cyanosis: Look for cyanosis, a bluish colouring of the skin and mucous membranes that indicates insufficient blood oxygenation. 
  • Vital Signs: Assess the heart rate for signs of tachycardia, which may be a compensatory response to maintain cardiac output. Note the respiratory rate, which may be increased, especially in the presence of respiratory distress. 
  • Growth and Development: Evaluate growth parameters, including weight and height, to assess for any signs of failure to thrive. 
  • Clubbing: Examine the fingers and toes for clubbing, which may develop due to chronic hypoxia. 
  • Pulses: Assess peripheral pulses to ensure adequate peripheral perfusion. 
  • Respiratory Examination: Observe the breathing pattern for signs of respiratory distress. Listen to breath sounds for any signs of respiratory compromise. 
  • Cardiac Examination: Observe the chest for any abnormal pulsations or heaves. Palpate the point of maximal impulse (PMI) and assess for any thrills. Listen to heart sounds, including the presence of murmurs. Pay attention to the characteristic sounds associated with tricuspid atresia, such as single S2 sound and a continuous murmur. 
  • Abdominal Examination: Assess for hepatomegaly, which may occur due to congestion in the liver. Look for signs of ascites, which may occur in cases of heart failure. 
  • Neurological Examination: Evaluate the patient’s mental status for signs of neurological impairment, which may occur in severe cases. 
  • Peripheral Edema: Check for peripheral edema, which may be a sign of heart failure and fluid retention. 
  • Pulmonary Examination: Listen for crackles in the lungs, which may indicate pulmonary congestion.

Age group

Associated comorbidity

  • Tricuspid atresia is often associated with other cardiac anomalies, including atrial septal defects (ASD), ventricular septal defects (VSD), and abnormalities in the pulmonary arteries and valves. 
  • Risk of arrhythmias, heart failure, and infections may increase over time. 

Associated activity

Acuity of presentation

  • Critical Neonatal Presentation: In some cases, tricuspid atresia presents as a critical neonatal emergency requiring prompt medical attention and interventions. 
  • Stable Presentation in Others: Some individuals may have a less severe presentation, and the condition may be stable for some time before the development of symptoms. 

Differential Diagnoses

  • Ebstein’s Anomaly: The tricuspid valve anomaly is the defining feature of this congenital cardiac disease. It may present with cyanosis and heart failure, like tricuspid atresia. However, in Ebstein’s anomaly, the tricuspid valve is usually present but displaced downward into the right ventricle. 
  • Pulmonary Atresia: It is another congenital heart defect where the pulmonary valve is either absent or abnormally developed. Like tricuspid atresia, it can lead to cyanosis. However, in pulmonary atresia, the right ventricle is typically hypoplastic. 
  • Tetralogy of Fallot: It is a congenital heart defect characterized by a combination of four abnormalities, including a ventricular septal defect, pulmonary stenosis, overriding aorta, and right ventricular hypertrophy. While it may present with cyanosis, the underlying anatomy is different from tricuspid atresia. 
  • Transposition of the Great Arteries (TGA): It is a condition where the pulmonary artery and aorta are interchanged. It can also present with cyanosis in the newborn period, but the clinical features and cardiac anatomy are distinct from tricuspid atresia.
  • Single Ventricle Anomalies: Other single ventricle anomalies, such as hypoplastic left heart syndrome (HLHS) or hypoplastic right heart syndrome, may share some clinical features with tricuspid atresia. 
  • Total Anomalous Pulmonary Venous Connection (TAPVC): It is a congenital heart defect where the pulmonary veins do not connect properly to the left atrium. It can cause cyanosis and may be considered in the differential diagnosis. 
  • Idiopathic Pulmonary Hypertension (IPH): It is a condition characterized by high blood pressure in the pulmonary arteries. It can lead to cyanosis and may be considered in the evaluation of a cyanotic infant. 
  • Neonatal Pneumonia or Respiratory Distress Syndrome: In newborns, respiratory conditions such as pneumonia or respiratory distress syndrome can present with cyanosis and respiratory distress, mimicking cardiac conditions. 

Laboratory Studies

Imaging Studies

Procedures

Histologic Findings

Staging

Treatment Paradigm

Medical Management: 

  • Prostaglandin E1 (PGE1) Infusion: In neonates with tricuspid atresia and ductal-dependent systemic circulation, prostaglandin E1 infusion is often initiated to maintain patency of the ductus arteriosus, allowing for adequate systemic blood flow. 

Surgical Interventions: 

  • Staged Surgical Repair: Surgical interventions are typically necessary to establish an alternative pathway for blood flow and improve oxygenation. The specific surgical approach depends on the individual’s anatomy. 
  • Norwood Procedure: In some cases, a Norwood procedure may be performed as part of staged surgical repair. This involves creating a connection between the pulmonary artery and the aorta. 
  • Fontan Procedure: A subsequent treatment called the Fontan procedure is frequently used to bypass the developing right ventricle and send systemic venous blood straight to the pulmonary arteries. This helps improve oxygenation. 
  • Bidirectional Glenn Shunt: Prior to the Fontan procedure, a bidirectional Glenn shunt may be performed to improve blood flow to the lungs. 

Catheter Interventions: 

  • Balloon Atrial Septostomy: In some cases, a balloon atrial septostomy may be performed to create or enlarge an atrial communication, improving blood flow and oxygenation. 

Management of Complications: 

  • Arrhythmia Management: Individuals with tricuspid atresia may be at risk of arrhythmias. Management may include medications or, in some cases, catheter ablation. 
  • Heart Failure Management: For those with heart failure, medications such as diuretics, angiotensin-converting enzyme (ACE) inhibitors, and beta-blockers may be prescribed. 

Long-Term Follow-Up: 

  • Regular Monitoring: Individuals with tricuspid atresia require regular follow-up with a pediatric cardiologist or congenital heart specialist for monitoring of cardiac function, oxygen saturation levels, and overall health. 
  • Lifelong Care: Lifelong follow-up is often necessary to address potential complications and adjust management strategies as needed. 

Pregnancy Management: 

  • Careful Monitoring: Due to the increased pressure on the cardiovascular system, pregnant women with tricuspid atresia require close monitoring and treatment. 

by Stage

by Modality

Chemotherapy

Radiation Therapy

Surgical Interventions

Hormone Therapy

Immunotherapy

Hyperthermia

Photodynamic Therapy

Stem Cell Transplant

Targeted Therapy

Palliative Care

Use of a non-pharmacological approach for treating Tricuspid atresia

  • Surgical Interventions: Surgical interventions are a cornerstone in the management of tricuspid atresia. Staged surgical repairs, including procedures like the Norwood procedure, Fontan procedure, and bidirectional Glenn shunt, are performed to reroute blood flow and optimize oxygenation. 
  • Balloon Atrial Septostomy: Balloon atrial septostomy is a catheter-based procedure that involves creating or enlarging an atrial communication. This intervention helps improve blood flow and oxygenation, especially in cases where there is limited communication between the atria. 
  • Oxygen Therapy: Providing supplemental oxygen is a non-pharmacological measure to alleviate cyanosis and improve oxygen saturation in individuals with tricuspid atresia. 
  • Prostaglandin Infusion: While prostaglandin E1 (PGE1) is a medication, its use involves a non-pharmacological strategy. PGE1 infusion is initiated to maintain the patency of the ductus arteriosus, allowing for adequate systemic blood flow in newborns with ductal-dependent systemic circulation. 
  • Lifestyle Modifications: Individuals with tricuspid atresia may benefit from activity and exercise management to prevent excessive strain on the cardiovascular system. Recommendations should be tailored to the individual’s condition and functional capacity. 
  • Nutritional Support: Adequate nutrition is crucial for individuals with congenital heart defects. Nutritional support may be provided to ensure proper growth and development. 
  • Psychosocial Support: Providing education and support to patients and their families is crucial for understanding the condition, treatment options, and necessary lifestyle modifications. 

Role of Prostaglandin E1 (PGE1) in the treatment of tricuspid atresia

Prostaglandin E1 (PGE1) plays a crucial role in the treatment of tricuspid atresia, especially in the early management of neonates with this congenital heart defect. Tricuspid atresia is characterized by the absence or severe underdevelopment of the tricuspid valve, leading to inadequate blood flow from the right atrium to the right ventricle. This condition results in a single ventricle physiology, where one ventricle (usually the left ventricle) is responsible for pumping blood to both the pulmonary and systemic circulations. 

  • Critical Role: In some cases of tricuspid atresia, the pulmonary circulation is dependent on the patency of the ductus arteriosus. The ductus arteriosus is a fetal blood vessel that connects the pulmonary artery to the aorta, allowing blood to bypass the nonfunctional or severely obstructed right ventricle. 
  • PGE1 Maintains Ductal Patency: Prostaglandin E1 is a potent vasodilator that helps maintain the patency of the ductus arteriosus. By preventing its closure, PGE1 ensures a continuous shunt of blood from the pulmonary artery to the systemic circulation. 
  • Treatment of Hypoxemia: Newborns with tricuspid atresia may present with severe cyanosis and hypoxemia due to limited pulmonary blood flow. The initiation of PGE1 infusion is crucial to improve pulmonary blood flow and oxygenation. 
  • Stabilization of the Newborn: Prostaglandin infusion helps stabilize neonates with tricuspid atresia and ensures an adequate supply of oxygenated blood to vital organs. 
  • Facilitation of Imaging Studies: PGE1 may be administered before diagnostic imaging studies (such as echocardiography) to enhance visualization of cardiac structures and better assess the anatomy and function of the heart. 

Use of Intervention with a procedure in treating tricuspid atresia

Specialty wise- Pediatric Cardiology, Pediatric Cardiothoracic Surgery 

The treatment of tricuspid atresia often involves staged surgical interventions to redirect blood flow, optimize oxygenation, and improve overall cardiac function. These procedures aim to address the unique anatomical challenges posed by the absence or severe underdevelopment of the tricuspid valve. Here are some key interventions and procedures commonly used in treating tricuspid atresia: 

Palliative Procedures: 

Palliative procedures are performed to regulate pulmonary blood flow and improve systemic oxygenation, especially in the absence of a fully functional right ventricle. 

Examples: 

  • Modified Blalock-Taussig (BT) Shunt: A systemic-to-pulmonary artery shunt is created to augment pulmonary blood flow. 
  • Pulmonary Artery (PA) Banding: In some cases, a band may be placed around the pulmonary artery to limit excessive pulmonary blood flow. 

Norwood Procedure: 

The Norwood procedure is part of the staged surgical approach for single ventricle palliation. It involves creating a connection between the pulmonary artery and the aorta, establishing an alternative pathway for blood flow. This is crucial in the context of tricuspid atresia with a single functional ventricle. 

Bidirectional Glenn Shunt: 

The Bidirectional Glenn procedure is another stage in the single ventricle palliation process. It involves connecting the superior vena cava to the pulmonary artery, diverting the deoxygenated blood directly to the pulmonary circulation. This helps reduce the workload on the single ventricle and optimize oxygenation. 

Fontan Procedure: 

The Fontan procedure is the final stage in the single ventricle palliation process. It involves creating a conduit (extra-cardiac or intra-atrial) between the inferior vena cava and the pulmonary arteries. This results in the total systemic venous return flowing passively into the pulmonary vessels, bypassing the right ventricle. The Fontan procedure has undergone modifications, and the conduit may be fenestrated to provide a “pop-off” valve as the lungs adjust to the extra blood flow from the lower body. 

Catheter Interventions: 

In some cases, a catheter-based intervention called balloon atrial septostomy may be performed to create or enlarge an atrial communication, improving blood flow and oxygenation. 

Reparative Procedures: 

  • Ventricular Septal Defect (VSD) Enlargement: In certain scenarios, interventions may focus on enlarging the VSD to allow for improved blood flow. 
  • Damus-Kaye-Stansel (DKS) Anastomosis: In cases with subaortic obstruction, a DKS anastomosis may be considered to address the obstruction. 

Use of phases in managing tricuspid atresia

Diagnosis and Evaluation: 

  • Early diagnosis through prenatal or postnatal screening. 
  • Echocardiography and other imaging studies to assess cardiac anatomy. 

Initiation of Prostaglandin E1 (PGE1): 

  • Prompt administration of PGE1 to maintain ductal patency and ensure adequate pulmonary blood flow in neonates with ductal-dependent pulmonary circulation. 

Stabilization of Hypoxemia: 

  • Proactive management of severe hypoxemia with PGE1 and other supportive measures. 

Palliation and Intermediate Procedures 

Palliative Procedures: 

  • Modified Blalock-Taussig (BT) shunt or other palliative procedures to regulate pulmonary blood flow and improve systemic oxygenation. 

Monitoring and Optimization: 

  • Regular monitoring of the patient’s growth, cardiac function, and overall health. 
  • Optimization of medical management to address heart failure or other complications. 

Surgical Palliation and Single Ventricle Pathway 

Norwood Procedure: 

  • Establishing an alternate blood flow channel through the aorta and pulmonary artery is the first step in stage I surgical palliation. 

Bidirectional Glenn Shunt: 

  • Stage II procedure connecting the superior vena cava to the pulmonary artery, further optimizing blood flow. 

Final Surgical Palliation 

Fontan Procedure: 

  • Stage III final surgical palliation, creating a conduit between the inferior vena cava and pulmonary arteries, bypassing the right ventricle. 
  • Modifications may include fenestration for a “pop-off” valve. 

Medication

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