Tricuspid Valve Atresia (TVA)

Overview

Definition

Tricuspid valve Tricuspid valve The valve consisting of three cusps situated between the right atrium and right ventricle of the heart. Heart: Anatomy atresia Atresia Hypoplastic Left Heart Syndrome (HLHS) (TVA) is a congenital heart defect (CHD) featuring the complete absence or agenesis Agenesis Teratogenic Birth Defects of the tricuspid valve Tricuspid valve The valve consisting of three cusps situated between the right atrium and right ventricle of the heart. Heart: Anatomy (TV) resulting in a lack of communication Communication The exchange or transmission of ideas, attitudes, or beliefs between individuals or groups. Decision-making Capacity and Legal Competence between the right atrium (RA) and the right ventricle (RV). Tricuspid valve Tricuspid valve The valve consisting of three cusps situated between the right atrium and right ventricle of the heart. Heart: Anatomy atresia Atresia Hypoplastic Left Heart Syndrome (HLHS) (TVA) is considered a cyanotic congenital heart disease (CCHD) as most patients Patients Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. Clinician–Patient Relationship present with cyanosis Cyanosis A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule. Pulmonary Examination at birth.

Anatomical variation

• Morphology of atresia Atresia Hypoplastic Left Heart Syndrome (HLHS):
  • Muscular (80%):
    • Solid muscular floor at base of RA replaces TV.
    • 95% associated with ventricular septal defect Ventricular Septal Defect Tetralogy of Fallot (VSD)
  • Membranous (10%) → replaced by membranous atrioventricular septum Atrioventricular septum A layer of tissue that separates the atria from the ventricles, composed of cardiac tissues. Atrioventricular Septal Defect (AVSD)
  • Valvular atresia Atresia Hypoplastic Left Heart Syndrome (HLHS) (5%) → valve present but leaflets fused together
  • TV displaced into RV (Ebstein’s anomaly)
• Associated cardiac lesions include:
  • Atrial septal defect Atrial Septal Defect Atrial septal defects (ASDs) are benign acyanotic congenital heart defects characterized by an opening in the interatrial septum that causes blood to flow from the left atrium (LA) to the right atrium (RA) (left-to-right shunt). Atrial Septal Defect (ASD) ( ASD ASD Autism spectrum disorder (ASD) is a neurodevelopmental disorder marked by poor social skills, restricted interests/social interactions, and repetitive/stereotyped behaviors. The condition is termed a “spectrum” because of the wide variability in the severity of symptoms exhibited. Autism Spectrum Disorder), patent foramen ovale Foramen ovale An opening in the wall between the right and the left upper chambers (heart atria) of a fetal heart. Oval foramen normally closes soon after birth; when it fails to close the condition is called patent oval foramen. Patent Foramen Ovale ( PFO PFO A patent foramen ovale (PFO) is an abnormal communication between the atria that persists after birth. The condition results from incomplete closure of the foramen ovale. Small, isolated, and asymptomatic pfos are a common incidental finding on echocardiography and require no treatment. Patent Foramen Ovale)
  • VSD
  • Transposition of the great vessels Transposition of the Great Vessels Transposition of the great vessels (TGV) is a cyanotic congenital heart disease characterized by “switching” of the great arteries. There are 2 presentations: the dextro (D)- and levo (L)-looped forms. The L-looped form is rare and congenitally corrected, as the ventricles are also switched. Transposition of the Great Arteries (TGV)
  • Right ventricular hypoplasia Hypoplasia Hypoplastic Left Heart Syndrome (HLHS)
  • Pulmonary stenosis Stenosis Hypoplastic Left Heart Syndrome (HLHS)
  • Coarctation of aorta Aorta The main trunk of the systemic arteries. Mediastinum and Great Vessels: Anatomy

Epidemiology

• 3rd most common CCHD
• Prevalence Prevalence The total number of cases of a given disease in a specified population at a designated time. It is differentiated from incidence, which refers to the number of new cases in the population at a given time. Measures of Disease Frequency: 1 per 10,000 live births
• M:F ratio 1:1
• No familial forms

Etiology

• Pathogenesis unknown but postulated to be:
  • Abnormal development of valves from endocardial cushions
  • Abnormal delamination of ventricular myocardium Myocardium The muscle tissue of the heart. It is composed of striated, involuntary muscle cells connected to form the contractile pump to generate blood flow. Heart: Anatomy
• Genetic predisposition is noted and seen with syndromes such as:
  • Trisomy 21 Trisomy 21 Down syndrome, or trisomy 21, is the most common chromosomal aberration and the most frequent genetic cause of developmental delay. Both boys and girls are affected and have characteristic craniofacial and musculoskeletal features, as well as multiple medical anomalies involving the cardiac, gastrointestinal, ocular, and auditory systems. Down syndrome (Trisomy 21) ( Down syndrome Down syndrome Down syndrome, or trisomy 21, is the most common chromosomal aberration and the most frequent genetic cause of developmental delay. Both boys and girls are affected and have characteristic craniofacial and musculoskeletal features, as well as multiple medical anomalies involving the cardiac, gastrointestinal, ocular, and auditory systems. Down syndrome (Trisomy 21))
  • Trisomy Trisomy The possession of a third chromosome of any one type in an otherwise diploid cell. Types of Mutations 18 ( Edwards syndrome Edwards syndrome Edwards syndrome, or trisomy 18, is a genetic syndrome caused by the presence of an extra chromosome 18. The extra chromosome is either from 3 full copies of chromosome 18 or an additional segment of chromosome 18. As the 2nd most common trisomy, Edwards syndrome is seen in 1 out of every 5,500 live births. Edwards Syndrome (Trisomy 18))
  • Vertebral, anal atresia Atresia Hypoplastic Left Heart Syndrome (HLHS), cardiac, trachea Trachea The trachea is a tubular structure that forms part of the lower respiratory tract. The trachea is continuous superiorly with the larynx and inferiorly becomes the bronchial tree within the lungs. The trachea consists of a support frame of semicircular, or C-shaped, rings made out of hyaline cartilage and reinforced by collagenous connective tissue. Trachea: Anatomy, esophageal, renal, and limb defect (VACTERL) association

Pathophysiology and Clinical Presentation

Pathophysiology

• No communication Communication The exchange or transmission of ideas, attitudes, or beliefs between individuals or groups. Decision-making Capacity and Legal Competence between RA and RV
• Drainage of RA is impeded → RA dilation (and hypoplastic RV)
• Interatrial communication Communication The exchange or transmission of ideas, attitudes, or beliefs between individuals or groups. Decision-making Capacity and Legal Competence ( PFO PFO A patent foramen ovale (PFO) is an abnormal communication between the atria that persists after birth. The condition results from incomplete closure of the foramen ovale. Small, isolated, and asymptomatic pfos are a common incidental finding on echocardiography and require no treatment. Patent Foramen Ovale) allows flow Flow Blood flows through the heart, arteries, capillaries, and veins in a closed, continuous circuit. Flow is the movement of volume per unit of time. Flow is affected by the pressure gradient and the resistance fluid encounters between 2 points. Vascular resistance is the opposition to flow, which is caused primarily by blood friction against vessel walls. Vascular Resistance, Flow, and Mean Arterial Pressure to left atrium (LA).
• Allows venous return to mix with oxygenated blood in LA → left ventricle (LV) → systemic circulation Circulation The movement of the blood as it is pumped through the cardiovascular system. ABCDE Assessment causing cyanosis Cyanosis A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule. Pulmonary Examination
• Blood flows into RV; pulmonary circulation Circulation The movement of the blood as it is pumped through the cardiovascular system. ABCDE Assessment depends on presence of VSD:
  • If VSD is present and large, left-right (L-R) shunt allows mixed blood to enter RV from LV and into pulmonary circulation Circulation The movement of the blood as it is pumped through the cardiovascular system. ABCDE Assessment.
  • Absent VSD or very small VSD Small VSD Ventricular Septal Defect (VSD) → patent ductus arteriosus Ductus arteriosus A fetal blood vessel connecting the pulmonary artery with the descending aorta. Patent Ductus Arteriosus (PDA) ( PDA PDA The ductus arteriosus (DA) allows blood to bypass pulmonary circulation. After birth, the DA remains open for up to 72 hours and then constricts and involutes, becoming the ligamentum arteriosum. Failure of this process to occur results in patent ductus arteriosus (PDA), a condition that causes up to 10% of congenital heart defects. Patent Ductus Arteriosus (PDA)) allows pulmonary circulation Circulation The movement of the blood as it is pumped through the cardiovascular system. ABCDE Assessment
• LV acts as single chamber pumping blood into both systemic and pulmonary circulation Circulation The movement of the blood as it is pumped through the cardiovascular system. ABCDE Assessment.
• If patient has concomitant pulmonary atresia Atresia Hypoplastic Left Heart Syndrome (HLHS), patient has no pulmonary blood flow Blood flow Blood flow refers to the movement of a certain volume of blood through the vasculature over a given unit of time (e.g., mL per minute). Vascular Resistance, Flow, and Mean Arterial Pressure and presents in shock Shock Shock is a life-threatening condition associated with impaired circulation that results in tissue hypoxia. The different types of shock are based on the underlying cause: distributive (↑ cardiac output (CO), ↓ systemic vascular resistance (SVR)), cardiogenic (↓ CO, ↑ SVR), hypovolemic (↓ CO, ↑ SVR), obstructive (↓ CO), and mixed. Types of Shock once PDA PDA The ductus arteriosus (DA) allows blood to bypass pulmonary circulation. After birth, the DA remains open for up to 72 hours and then constricts and involutes, becoming the ligamentum arteriosum. Failure of this process to occur results in patent ductus arteriosus (PDA), a condition that causes up to 10% of congenital heart defects. Patent Ductus Arteriosus (PDA) closes.

Clinical presentation

• 50% of patients Patients Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. Clinician–Patient Relationship present within 1st day of life.
• 80% of patients Patients Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. Clinician–Patient Relationship present within 1st month of life.
• Presentation includes:
  • Cyanosis Cyanosis A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule. Pulmonary Examination
  • Labored breathing
  • Hypoxic spells

Diagnosis

Physical examination

• Central cyanosis Cyanosis A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule. Pulmonary Examination
• Pulse oximetry: decreased oxygen saturation Oxygen Saturation Basic Procedures (Sp02)
• Signs of respiratory distress:
  • Tachypnea Tachypnea Increased respiratory rate. Pulmonary Examination
  • Grunting Grunting Physical Examination of the Newborn
  • Nasal flaring
  • Difficulty feeding
• Auscultation:
  • Single second heart sound ( S2 S2 Heart Sounds)
  • Holosystolic murmur of VSD (left lower sternal border)
• Additional signs based on associated cardiac lesions:
  • Pulmonary atresia Atresia Hypoplastic Left Heart Syndrome (HLHS) with PDA PDA The ductus arteriosus (DA) allows blood to bypass pulmonary circulation. After birth, the DA remains open for up to 72 hours and then constricts and involutes, becoming the ligamentum arteriosum. Failure of this process to occur results in patent ductus arteriosus (PDA), a condition that causes up to 10% of congenital heart defects. Patent Ductus Arteriosus (PDA) → continuous murmur
  • Restrictive PFO PFO A patent foramen ovale (PFO) is an abnormal communication between the atria that persists after birth. The condition results from incomplete closure of the foramen ovale. Small, isolated, and asymptomatic pfos are a common incidental finding on echocardiography and require no treatment. Patent Foramen Ovale or ASD ASD Autism spectrum disorder (ASD) is a neurodevelopmental disorder marked by poor social skills, restricted interests/social interactions, and repetitive/stereotyped behaviors. The condition is termed a “spectrum” because of the wide variability in the severity of symptoms exhibited. Autism Spectrum Disorder → hepatomegaly
  • Coarctation of aorta Aorta The main trunk of the systemic arteries. Mediastinum and Great Vessels: Anatomy → diminished pulses in lower extremities

Imaging

• Chest X-ray X-ray Penetrating electromagnetic radiation emitted when the inner orbital electrons of an atom are excited and release radiant energy. X-ray wavelengths range from 1 pm to 10 nm. Hard x-rays are the higher energy, shorter wavelength x-rays. Soft x-rays or grenz rays are less energetic and longer in wavelength. The short wavelength end of the x-ray spectrum overlaps the gamma rays wavelength range. The distinction between gamma rays and x-rays is based on their radiation source. Pulmonary Function Tests: cardiomegaly Cardiomegaly Enlargement of the heart, usually indicated by a cardiothoracic ratio above 0. 50. Heart enlargement may involve the right, the left, or both heart ventricles or heart atria. Cardiomegaly is a nonspecific symptom seen in patients with chronic systolic heart failure (heart failure) or several forms of cardiomyopathies. Ebstein’s Anomaly in presence of large VSD Large VSD Ventricular Septal Defect (VSD)
• Electrocardiogram Electrocardiogram An electrocardiogram (ECG) is a graphic representation of the electrical activity of the heart plotted against time. Adhesive electrodes are affixed to the skin surface allowing measurement of cardiac impulses from many angles. The ECG provides 3-dimensional information about the conduction system of the heart, the myocardium, and other cardiac structures. Electrocardiogram (ECG) ( ECG ECG An electrocardiogram (ECG) is a graphic representation of the electrical activity of the heart plotted against time. Adhesive electrodes are affixed to the skin surface allowing measurement of cardiac impulses from many angles. The ECG provides 3-dimensional information about the conduction system of the heart, the myocardium, and other cardiac structures. Electrocardiogram (ECG)):
  • Tall p waves
  • Left axis deviation 
  • LV hypertrophy Hypertrophy General increase in bulk of a part or organ due to cell enlargement and accumulation of fluids and secretions, not due to tumor formation, nor to an increase in the number of cells (hyperplasia). Cellular Adaptation
• Echocardiography
  • Definitive diagnosis
  • Can be performed prenatally
  • Shows absent TV, PFO PFO A patent foramen ovale (PFO) is an abnormal communication between the atria that persists after birth. The condition results from incomplete closure of the foramen ovale. Small, isolated, and asymptomatic pfos are a common incidental finding on echocardiography and require no treatment. Patent Foramen Ovale, and right ventricular hypoplasia Hypoplasia Hypoplastic Left Heart Syndrome (HLHS)
  • Also evaluates:
    • Presence and size of VSD
    • Degree of pulmonary stenosis Stenosis Hypoplastic Left Heart Syndrome (HLHS)
    • Transposition of great vessels
    • Presence of coarctation of aorta Aorta The main trunk of the systemic arteries. Mediastinum and Great Vessels: Anatomy

Management

Management

Management is medical stabilization followed by a staged surgical repair. 

• Initial medical management:
  • Prostaglandin E1 Prostaglandin E1 Coarctation of the Aorta IV to keep ductus arteriosus Ductus arteriosus A fetal blood vessel connecting the pulmonary artery with the descending aorta. Patent Ductus Arteriosus (PDA) patent
  • Cardiorespiratory support:
    • Mechanical ventilation Ventilation The total volume of gas inspired or expired per unit of time, usually measured in liters per minute. Ventilation: Mechanics of Breathing
    • Inotropes Inotropes Hypoplastic Left Heart Syndrome (HLHS) to support blood pressure
• Surgical goal is to create a single ventricle system and 2 parallel circulations:
  • Stage I:
    • Neonatal period
    • Blalock-Taussig shunt (creates ductus arteriosus Ductus arteriosus A fetal blood vessel connecting the pulmonary artery with the descending aorta. Patent Ductus Arteriosus (PDA))
    • Atrial septostomy (creates ASD ASD Autism spectrum disorder (ASD) is a neurodevelopmental disorder marked by poor social skills, restricted interests/social interactions, and repetitive/stereotyped behaviors. The condition is termed a “spectrum” because of the wide variability in the severity of symptoms exhibited. Autism Spectrum Disorder)
  • Stage II:
    • 3–6 months
    • Glenn shunt anastomosis: direct drainage of venous return from superior vena cava Superior vena cava The venous trunk which returns blood from the head, neck, upper extremities and chest. Mediastinum and Great Vessels: Anatomy (SVC) into pulmonary artery Pulmonary artery The short wide vessel arising from the conus arteriosus of the right ventricle and conveying unaerated blood to the lungs. Lungs: Anatomy (PA)
  • Stage III:
    • 2–5 years
    • Fontan procedure: drains venous return from inferior vena cava Inferior vena cava The venous trunk which receives blood from the lower extremities and from the pelvic and abdominal organs. Mediastinum and Great Vessels: Anatomy directly into PA

Prognosis Prognosis A prediction of the probable outcome of a disease based on a individual’s condition and the usual course of the disease as seen in similar situations. Non-Hodgkin Lymphomas

• Without intervention, 75% of patients Patients Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. Clinician–Patient Relationship die in early childhood.
• 80% survival rate (＞10 years) once all 3 stages completed

Differential Diagnosis

Additional CCHD include:

• Tetralogy of Fallot Tetralogy of Fallot Tetralogy of Fallot is the most common cyanotic congenital heart disease. The disease is the confluence of 4 pathologic cardiac features: overriding aorta, ventricular septal defect, right ventricular outflow obstruction, and right ventricular hypertrophy. Tetralogy of Fallot (TOF): congenital heart disease (CHD) characterized by the occurrence of 4 key cardinal features: overriding aorta Overriding Aorta Tetralogy of Fallot, VSD, right ventricular outflow tract obstruction (RVOTO), and right ventricular hypertrophy Right Ventricular Hypertrophy Tetralogy of Fallot (RVH). Patients Patients Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. Clinician–Patient Relationship present with cyanosis Cyanosis A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule. Pulmonary Examination and a history of tet spells Tet Spells Tetralogy of Fallot. Diagnosis confirmed by echocardiogram Echocardiogram Transposition of the Great Arteries and management includes surgery.
• Transposition of the great vessels Transposition of the Great Vessels Transposition of the great vessels (TGV) is a cyanotic congenital heart disease characterized by “switching” of the great arteries. There are 2 presentations: the dextro (D)- and levo (L)-looped forms. The L-looped form is rare and congenitally corrected, as the ventricles are also switched. Transposition of the Great Arteries (TGV): congenital heart defect (CHD) characterized by a switching of great vessels; the aorta Aorta The main trunk of the systemic arteries. Mediastinum and Great Vessels: Anatomy originates from the RV and the PA originates from the LV. The patient presents with cyanosis Cyanosis A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule. Pulmonary Examination, tachypnea Tachypnea Increased respiratory rate. Pulmonary Examination, heart failure Heart Failure A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (ventricular dysfunction), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as myocardial infarction. Total Anomalous Pulmonary Venous Return (TAPVR), and hypoxemia Hypoxemia Neonatal Respiratory Distress Syndrome unresponsive to supplemental oxygen Supplemental Oxygen Respiratory Failure. Diagnosis is confirmed by echocardiogram Echocardiogram Transposition of the Great Arteries and management includes surgery.
• Truncus arteriosus Truncus arteriosus Truncus arteriosus (TA) is a congenital heart defect characterized by the persistence of a common cardiac arterial trunk tract that fails to divide into the pulmonary artery and aorta during embryonic development. Truncus arteriosus is a rare congenital malformation with a high mortality rate within the 1st 5 weeks of life if not managed promptly. Truncus Arteriosus ( TA TA Thyrotoxicosis and Hyperthyroidism): The aorta Aorta The main trunk of the systemic arteries. Mediastinum and Great Vessels: Anatomy and pulmonary artery Pulmonary artery The short wide vessel arising from the conus arteriosus of the right ventricle and conveying unaerated blood to the lungs. Lungs: Anatomy emerge from a common trunk overriding the VSD. The patient is symptomatic from the 1st day of life. Symptoms include cyanosis Cyanosis A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule. Pulmonary Examination, respiratory distress, heart failure Heart Failure A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (ventricular dysfunction), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as myocardial infarction. Total Anomalous Pulmonary Venous Return (TAPVR), poor feeding, and excessive sweating. Diagnosis is confirmed by echocardiogram Echocardiogram Transposition of the Great Arteries and management includes surgery.
• Total anomalous pulmonary venous return (TAPVR): Characterized by wide-split S2 S2 Heart Sounds, TAPVR is a rare congenital cardiopathy in which pulmonary veins Pulmonary veins The veins that return the oxygenated blood from the lungs to the left atrium of the heart. Lungs: Anatomy drain to sites other than the LA. The patient presents with cyanosis Cyanosis A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule. Pulmonary Examination from birth, heart failure Heart Failure A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (ventricular dysfunction), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as myocardial infarction. Total Anomalous Pulmonary Venous Return (TAPVR), and respiratory distress. Diagnosis is confirmed by echocardiogram Echocardiogram Transposition of the Great Arteries and management includes surgery.
• Ebstein’s anomaly: congenital heart defect (CHD) with downward displacement Displacement The process by which an emotional or behavioral response that is appropriate for one situation appears in another situation for which it is inappropriate. Defense Mechanisms of tricuspid valve Tricuspid valve The valve consisting of three cusps situated between the right atrium and right ventricle of the heart. Heart: Anatomy leaflets causing RVOTO. The patient presents with cyanosis Cyanosis A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule. Pulmonary Examination, arrhythmias, and failure to thrive Failure to Thrive Failure to thrive (FTT), or faltering growth, describes suboptimal weight gain and growth in children. The majority of cases are due to inadequate caloric intake; however, genetic, infectious, and oncological etiologies are also common. Failure to Thrive. Diagnosis is confirmed by echocardiogram Echocardiogram Transposition of the Great Arteries and management includes surgery.