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Total Anomalous Pulmonary Venous Return (TAPVR)

Total anomalous pulmonary venous return (TAPVR) is a cyanotic congenital Congenital Chorioretinitis heart defect wherein the pulmonary veins Veins Veins are tubular collections of cells, which transport deoxygenated blood and waste from the capillary beds back to the heart. Veins are classified into 3 types: small veins/venules, medium veins, and large veins. Each type contains 3 primary layers: tunica intima, tunica media, and tunica adventitia. Veins: Histology drain into anatomical sites other than the left atrium. The most common sub-type is the supra cardiac form, where the drainage is into the 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. Patients Patients Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. Clinician–Patient Relationship are usually cyanotic from birth and present with respiratory and heart failure right after birth. On examination there is a fixed, wide split-second heart sound, and a 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 might reveal the “snowman” sign. Diagnosis is confirmed by an echocardiogram Echocardiogram Transposition of the Great Vessels, which can be prenatal. All patients require surgery for survival and medical management is used to bridge the gap to surgery.

Last updated: 23 Mar, 2022

Editorial responsibility: Stanley Oiseth, Lindsay Jones, Evelin Maza

Overview

Definition

Total anomalous pulmonary venous return (TAPVR) is a cyanotic congenital Congenital Chorioretinitis heart defect that results in the drainage of the 4 pulmonary veins Veins Veins are tubular collections of cells, which transport deoxygenated blood and waste from the capillary beds back to the heart. Veins are classified into 3 types: small veins/venules, medium veins, and large veins. Each type contains 3 primary layers: tunica intima, tunica media, and tunica adventitia. Veins: Histology into the systemic venous circulation Circulation The movement of the blood as it is pumped through the cardiovascular system. ABCDE Assessment, rather than into the left atrium, resulting in mixing of oxygenated and deoxygenated blood. An interatrial defect ( 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, 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 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)) must be present to allow mixed blood to shunt to the left side of the heart and the systemic arterial circulation Circulation The movement of the blood as it is pumped through the cardiovascular system. ABCDE Assessment.

Classification

  • Based on where pulmonary veins Veins Veins are tubular collections of cells, which transport deoxygenated blood and waste from the capillary beds back to the heart. Veins are classified into 3 types: small veins/venules, medium veins, and large veins. Each type contains 3 primary layers: tunica intima, tunica media, and tunica adventitia. Veins: Histology drain:
  • Obstructed TAPVR: Pulmonary vein is narrowed, resulting in impedance to blood flowing out of pulmonary circulation Circulation The movement of the blood as it is pumped through the cardiovascular system. ABCDE Assessment.
Tavr vs normal heart

A heart with normal anatomy versus a heart with total anomalous pulmonary venous return:
The most common form of TAPVR features the 4 pulmonary veins Veins Veins are tubular collections of cells, which transport deoxygenated blood and waste from the capillary beds back to the heart. Veins are classified into 3 types: small veins/venules, medium veins, and large veins. Each type contains 3 primary layers: tunica intima, tunica media, and tunica adventitia. Veins: Histology draining into the 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) as shown here. Notice the increased size of the right ventricular wall, due to progressive ventricular overload.

Image by Lecturio.

Epidemiology

  • Rare condition: 0.7%–1.5% of all CHD
  • 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: ~ 6.8 per 100,000 live births

Embryology

This condition arises due to the failure of the left atrium to merge with the pulmonary venous plexus during fetal development.

  • 1st month of gestation: Primitive cardinal and umbilicovitelline vessels drain systemic circulation Systemic circulation Circulation is the movement of blood throughout the body through one continuous circuit of blood vessels. Different organs have unique functions and, therefore, have different requirements, circulatory patterns, and regulatory mechanisms. Systemic and Special Circulations into fetal heart.
  • 27–29 days from conception: 
    • Pulmonary venous plexus arises from splanchnic plexus.
    • Embryonal left atrium (LA) gives rise to common pulmonary vein (CPV).
    • CPV merges with venous plexus.
    • CPV splits into 4 and is incorporated into wall of LA.
  • Failure of common pulmonary vein to merge with venous plexus resulting in TAPVR:
    • Connection with primitive cardinal venous system (draining into RA or SVC) and umbilicovitelline system ( IVC IVC The venous trunk which receives blood from the lower extremities and from the pelvic and abdominal organs. Mediastinum and Great Vessels: Anatomy, hepatic, or portal vein Portal vein A short thick vein formed by union of the superior mesenteric vein and the splenic vein. Liver: Anatomy)
Embryology of tapvr

A: During the first month of gestation the left and right common cardinal vein (LCCV, RCCV) and the umbilical vein umbilical vein Venous vessels in the umbilical cord. They carry oxygenated, nutrient-rich blood from the mother to the fetus via the placenta. In humans, there is normally one umbilical vein. Prenatal and Postnatal Physiology of the Neonate (UV) drain the splanchnic plexus (the primitive pulmonary vasculature) into the fetal heart.
B: At the end of the first month of gestation the embryonal left atrium (LA) gives rise to common pulmonary vein (CPV) which merges with the venous plexus
C: The connection to the LCCV, RCCV and UV disappear
D: CPV splits into 4 and is incorporated into the wall of the left atrium
RA: right atrium
LLB: left lung bud Lung bud Development of the Respiratory System
RLB: right lung bud Lung bud Development of the Respiratory System

Image by Lecturio.

Pathophysiology and Clinical Presentation

Pathophysiology

  • In non-obstructed TAPVR:
    • Oxygenated blood from pulmonary venous plexus flows into deoxygenated blood found in RA, IVC IVC The venous trunk which receives blood from the lower extremities and from the pelvic and abdominal organs. Mediastinum and Great Vessels: Anatomy, or SVC → venous mixing 
    • Mixed blood is shunted right to left through intra-atrial shunt ( 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) into systemic circulation Systemic circulation Circulation is the movement of blood throughout the body through one continuous circuit of blood vessels. Different organs have unique functions and, therefore, have different requirements, circulatory patterns, and regulatory mechanisms. Systemic and Special Circulations → 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
    • RA and RV dilate to accommodate extra volume → right-sided heart failure Right-Sided Heart Failure Ebstein’s Anomaly 
  • In moderate obstruction to pulmonary return: increased pressure in pulmonary vein → increased pressure in 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 pulmonary hypertension Pulmonary Hypertension Pulmonary hypertension (PH) or pulmonary arterial hypertension (PAH) is characterized by elevated pulmonary arterial pressure, which can lead to chronic progressive right heart failure. Pulmonary hypertension is grouped into 5 categories based on etiology, which include primary PAH, and PH due to cardiac disease, lung or hypoxic disease, chronic thromboembolic disease, and multifactorial or unclear etiologies. Pulmonary Hypertension → RVH → right-sided heart failure Right-Sided Heart Failure Ebstein’s Anomaly
Total anomalous venous return patho

Blood mixing in total anomalous pulmonary venous return:
In TAPVR, oxygenated blood from the lungs Lungs Lungs are the main organs of the respiratory system. Lungs are paired viscera located in the thoracic cavity and are composed of spongy tissue. The primary function of the lungs is to oxygenate blood and eliminate CO2. Lungs: Anatomy returns to the systemic venous circulation Circulation The movement of the blood as it is pumped through the cardiovascular system. ABCDE Assessment mixing with deoxygenated blood. This mixed blood then shunts to the left side of the heart through an atrial septum defect and flows to the rest of the body resulting in 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.

Image: “Illustration of totaly anomalyous pulmonary venous return” by Centers for Disease Control and Prevention. License: CC0

Clinical presentation Presentation The position or orientation of the fetus at near term or during obstetric labor, determined by its relation to the spine of the mother and the birth canal. The normal position is a vertical, cephalic presentation with the fetal vertex flexed on the neck. Normal and Abnormal Labor

The degree of obstruction of pulmonary veins Veins Veins are tubular collections of cells, which transport deoxygenated blood and waste from the capillary beds back to the heart. Veins are classified into 3 types: small veins/venules, medium veins, and large veins. Each type contains 3 primary layers: tunica intima, tunica media, and tunica adventitia. Veins: Histology determines the age of presentation Presentation The position or orientation of the fetus at near term or during obstetric labor, determined by its relation to the spine of the mother and the birth canal. The normal position is a vertical, cephalic presentation with the fetal vertex flexed on the neck. Normal and Abnormal Labor:

  • Obstructed:
    • At birth
    • Cyanosis 
    • Signs of 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
    • Difficult to arouse
    • Severe shortness of breath Shortness of breath Dyspnea is the subjective sensation of breathing discomfort. Dyspnea is a normal manifestation of heavy physical or psychological exertion, but also may be caused by underlying conditions (both pulmonary and extrapulmonary). Dyspnea or apnea
  • Unobstructed:
    • 30 + days of age
    • Subtle 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
    • Poor feeding
    • Labored breathing

Diagnosis

Physical examination

  • Cyanosis: 
    • Pulse oximetry: ↓ Sp02
  • 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
  • Heart sounds Heart sounds Heart sounds are brief, transient sounds produced by valve opening and closure and by movement of blood in the heart. They are divided into systolic and diastolic sounds. In most cases, only the first (S1) and second (S2) heart sounds are heard. These are high-frequency sounds and arise from aortic and pulmonary valve closure (S1), as well as mitral and tricuspid valve closure (S2). Heart Sounds:
  • Signs of respiratory failure Respiratory failure Respiratory failure is a syndrome that develops when the respiratory system is unable to maintain oxygenation and/or ventilation. Respiratory failure may be acute or chronic and is classified as hypoxemic, hypercapnic, or a combination of the two. Respiratory Failure:
  • Signs of heart failure:
    • Hepatomegaly
    • Tachycardia Tachycardia Abnormally rapid heartbeat, usually with a heart rate above 100 beats per minute for adults. Tachycardia accompanied by disturbance in the cardiac depolarization (cardiac arrhythmia) is called tachyarrhythmia. Sepsis in Children
    • Hypotension Hypotension Hypotension is defined as low blood pressure, specifically < 90/60 mm Hg, and is most commonly a physiologic response. Hypotension may be mild, serious, or life threatening, depending on the cause. Hypotension
    • Cool extremities
    • Weak pulses
  • Asplenia Asplenia Asplenia is the absence of splenic tissue or function and can stem from several factors ranging from congenital to iatrogenic. There is a distinction between anatomic asplenia, which is due to the surgical removal of the spleen, and functional asplenia, which is due to a condition that leads to splenic atrophy, infarct, congestion, or infiltrative disease. Asplenia (seen in patients Patients Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. Clinician–Patient Relationship with heterotaxy syndromes)

Imaging

  • Echocardiogram Echocardiogram Transposition of the Great Vessels:
    • Confirms diagnosis
    • Can be performed prenatally
    • Evaluates:
      • Type of TAPVR
      • Degree of obstruction
      • Right-to-left shunt
      • RV dilation
      • With doppler Doppler Ultrasonography applying the doppler effect, with frequency-shifted ultrasound reflections produced by moving targets (usually red blood cells) in the bloodstream along the ultrasound axis in direct proportion to the velocity of movement of the targets, to determine both direction and velocity of blood flow. Ultrasound (Sonography) → pulmonary vascular pressure
  • 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:
    • Classic “snowman” sign seen in supra-cardiac TAPVR
    • Pulmonary venous congestion
    • Right heart enlargement
  • 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):
    • Right axis Axis The second cervical vertebra. Vertebral Column: Anatomy deviation
    • Right ventricle 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
Total anomalous pulmonary vein drainage

Total anomalous pulmonary vein drainage: marked pulmonary congestion and diffuse bilateral reticulogranular infiltrates

Image: “Total anomalous pulmonary vein drainage” by Departments of Pathology and Cell Biology, School of Medicine, University of Occupational and Environmental Health, Fukuoka Shin Shin Erythema Nodosum Mizumaki Hospital, Kitakyushu, Japan. License: CC BY 2.5

Management

  • Surgery required in all patients Patients Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. Clinician–Patient Relationship
  • Medical management required to stabilize patient and bridge to surgery:
  • Surgical management:
    • Definitive therapy aiming to redirect drainage of pulmonary veins Veins Veins are tubular collections of cells, which transport deoxygenated blood and waste from the capillary beds back to the heart. Veins are classified into 3 types: small veins/venules, medium veins, and large veins. Each type contains 3 primary layers: tunica intima, tunica media, and tunica adventitia. Veins: Histology into LA 
    • Palliative surgery in severely obstructed TAPVR (sick newborns) includes:

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

Differential Diagnosis

  • 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 Congenital Chorioretinitis heart disease characterized by occurrence of 4 key cardinal features: overriding aorta Overriding Aorta Tetralogy of Fallot, ventricular septal defect Ventricular Septal Defect Tetralogy of Fallot, right ventricular outlet obstruction, and right ventricular hypertrophy Ventricular Hypertrophy Tetralogy of Fallot. Patients 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 history of “ tet spells Tet Spells Tetralogy of Fallot” (fainting while crying). Diagnosis is confirmed by echocardiogram and patient is surgically managed.
  • Tricuspid valve atresia Atresia Hypoplastic Left Heart Syndrome (HLHS) (TVA): congenital Congenital Chorioretinitis heart disease characterized by lack of development of tricuspid valve Tricuspid valve The valve consisting of three cusps situated between the right atrium and right ventricle of the heart. Heart: Anatomy. 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, labored breathing, and hypoxic spells. Holosystolic murmur Holosystolic Murmur Tricuspid Valve Atresia (TVA) and single S2 S2 Heart Sounds are present on exam. Diagnosis made by echocardiogram. Ultimate treatment is surgical.
  • 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 Vessels (TGV): congenital Congenital Chorioretinitis heart defect characterized by switching of great vessels, so aorta Aorta The main trunk of the systemic arteries. Mediastinum and Great Vessels: Anatomy originates from right ventricle 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 from left. 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, heart failure, hypoxemia Hypoxemia Neonatal Respiratory Distress Syndrome, and lack of response to supplemental oxygen Supplemental Oxygen Respiratory Failure. Ultimate treatment is surgical.
  • 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): emergence of 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 from common trunk overriding ventricular septal defect Ventricular Septal Defect Tetralogy of Fallot (VSD). Symptomatic from 1st days of life, including 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, poor feeding, and excessive sweating. Diagnosed by echocardiogram. Ultimate treatment is surgical.
  • Ebstein anomaly (EA): congenital Congenital Chorioretinitis heart defect in which there is 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 right ventricular outflow tract tachycardia (RVOT) obstruction. 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. Diagnosed by echocardiogram. Ultimate treatment is surgical.

References

  1. Burroughs JT, Edwards JE. Total anomalous pulmonary venous connection. Am Heart J. 1960 Jun;59:913-31. doi: 10.1016/0002-8703(60)90414-2. PMID: 13806293.
  2. Hoffman JI, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol. 2002 Jun 19;39(12):1890-900. doi: 10.1016/s0735-1097(02)01886-7. PMID: 12084585.
  3. Sadler, T. W., & Langman, J. (2012). Langman’s medical embryology (12th ed.). Philadelphia: Wolters Kluwer Health/Lippincott Williams & Wilkins.
  4. Seale AN, Uemura H, Webber SA, Partridge J, Roughton M, Ho SY, McCarthy KP, Jones S, Shaughnessy L, Sunnegardh J, Hanseus K, Berggren H, Johansson S, Rigby ML, Keeton BR, Daubeney PE; British Congenital Cardiac Association. Total anomalous pulmonary venous connection: morphology and outcome from an international population-based study. Circulation. 2010 Dec 21;122(25):2718-26. doi: 10.1161/CIRCULATIONAHA.110.940825. Epub 2010 Dec 6. PMID: 21135364.

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