Tricuspid Valve Atresia (TVA)

Tricuspid valve atresia (TVA) is a congenital heart defect (CHD) causing an absent or rudimentary tricuspid valve (TV) associated with an interatrial or ventricular septal defect. Patients present with cyanosis at birth due to blood mixing between the right atrium (RA) and right ventricle (RV). Diagnosis can be made in utero or confirmed after birth with an echocardiogram. Definitive management involves a staged surgical procedure beginning in the neonatal period.

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Overview

Definition

Tricuspid valve atresia (TVA) is a congenital heart defect (CHD) featuring the complete absence or agenesis of the tricuspid valve (TV) resulting in a lack of communication between the right atrium (RA) and the right ventricle (RV). Tricuspid valve atresia (TVA) is considered a cyanotic congenital heart disease (CCHD) as most patients present with cyanosis at birth.

Anatomical variation

  • Morphology of atresia:
    • Muscular (80%):
      • Solid muscular floor at base of RA replaces TV.
      • 95% associated with ventricular septal defect (VSD)
    • Membranous (10%) → replaced by membranous atrioventricular septum
    • Valvular atresia (5%) → valve present but leaflets fused together
    • TV displaced into RV (Ebstein’s anomaly)
  • Associated cardiac lesions include:
    • Atrial septal defect (ASD), patent foramen ovale (PFO)
    • VSD
    • Transposition of the great vessels (TGV)
    • Right ventricular hypoplasia
    • Pulmonary stenosis
    • Coarctation of aorta

Epidemiology

  • 3rd most common CCHD
  • Prevalence: 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
  • Genetic predisposition is noted and seen with syndromes such as:
    • Trisomy 21 (Down syndrome)
    • Trisomy 18 (Edwards syndrome)
    • Vertebral, anal atresia, cardiac, trachea, esophageal, renal, and limb defect (VACTERL) association
Tricuspid atresia

Tricuspid atresia:
Note the thick muscular floor base of the RA in place of the TV in the cadaver sample. The image indicates no communication between the RA and the RV.

Image: “The new concept of univentricular heart” by Frescura C, Thiene G. License: CC BY 3.0, edited by Lecturio.

Pathophysiology and Clinical Presentation

Pathophysiology

  • No communication between RA and RV
  • Drainage of RA is impeded → RA dilation (and hypoplastic RV)
  • Interatrial communication (PFO) allows flow to left atrium (LA).
  • Allows venous return to mix with oxygenated blood in LA → left ventricle (LV) → systemic circulation causing cyanosis
  • Blood flows into RV; pulmonary circulation 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.
    • Absent VSD or very small VSD → patent ductus arteriosus (PDA) allows pulmonary circulation
  • LV acts as single chamber pumping blood into both systemic and pulmonary circulation.
  • If patient has concomitant pulmonary atresia, patient has no pulmonary blood flow and presents in shock once PDA closes.
Tricuspid atresia cardial blood flow

Cardiac blood flow in tricuspid atresia:
Image of blood flow through a normal heart vs. a heart with TVA. In the heart with TVA, deoxygenated blood enters the RA and flows into the LA by way of interatrial communication. The LV acts like a single chamber pumping blood into the systemic and pulmonary circulation via a VSD.

Image by Lecturio.

Clinical presentation

  • 50% of patients present within 1st day of life.
  • 80% of patients present within 1st month of life.
  • Presentation includes:
    • Cyanosis
    • Labored breathing
    • Hypoxic spells

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Diagnosis

Physical examination

  • Central cyanosis
  • Pulse oximetry: decreased oxygen saturation (Sp02)
  • Signs of respiratory distress: 
    • Tachypnea
    • Grunting
    • Nasal flaring
    • Difficulty feeding
  • Auscultation:
    • Single second heart sound (S2)
    • Holosystolic murmur of VSD (left lower sternal border)
  • Additional signs based on associated cardiac lesions:
    • Pulmonary atresia with PDA → continuous murmur
    • Restrictive PFO or ASD → hepatomegaly
    • Coarctation of aorta → diminished pulses in lower extremities

Imaging

  • Chest X-ray: cardiomegaly in presence of large VSD
  • Electrocardiogram (ECG):
    • Tall p waves
    • Left axis deviation 
    • LV hypertrophy
  • Echocardiography
    • Definitive diagnosis
    • Can be performed prenatally
    • Shows absent TV, PFO, and right ventricular hypoplasia
    • Also evaluates:
      • Presence and size of VSD
      • Degree of pulmonary stenosis
      • Transposition of great vessels
      • Presence of coarctation of aorta

Management

Management

Management is medical stabilization followed by a staged surgical repair. 

  • Initial medical management:
    • Prostaglandin E1 IV to keep ductus arteriosus patent
    • Cardiorespiratory support:
      • Mechanical ventilation
      • Inotropes 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)
      • Atrial septostomy (creates ASD)
    • Stage II: 
      • 3–6 months
      • Glenn shunt anastomosis: direct drainage of venous return from superior vena cava (SVC) into pulmonary artery (PA)
    • Stage III: 
      • 2–5 years
      • Fontan procedure: drains venous return from inferior vena cava directly into PA

Prognosis

  • Without intervention, 75% of patients die in early childhood.
  • 80% survival rate (>10 years) once all 3 stages completed

Differential Diagnosis

Additional CCHD include:

  • Tetralogy of Fallot (TOF): congenital heart disease (CHD) characterized by the occurrence of 4 key cardinal features: overriding aorta, VSD, right ventricular outflow tract obstruction (RVOTO), and right ventricular hypertrophy (RVH). Patients present with cyanosis and a history of tet spells. Diagnosis confirmed by echocardiogram and management includes surgery.
  • Transposition of the great vessels (TGV): congenital heart defect (CHD) characterized by a switching of great vessels; the aorta originates from the RV and the PA originates from the LV. The patient presents with cyanosis, tachypnea, heart failure, and hypoxemia unresponsive to supplemental oxygen. Diagnosis is confirmed by echocardiogram and management includes surgery.
  • Truncus arteriosus (TA): The aorta and pulmonary artery emerge from a common trunk overriding the VSD. The patient is symptomatic from the 1st day of life. Symptoms include cyanosis, respiratory distress, heart failure, poor feeding, and excessive sweating. Diagnosis is confirmed by echocardiogram and management includes surgery.
  • Total anomalous pulmonary venous return (TAPVR): Characterized by wide-split S2, TAPVR is a rare congenital cardiopathy in which pulmonary veins drain to sites other than the LA. The patient presents with cyanosis from birth, heart failure, and respiratory distress. Diagnosis is confirmed by echocardiogram and management includes surgery.
  • Ebstein’s anomaly: congenital heart defect (CHD) with downward displacement of tricuspid valve leaflets causing RVOTO. The patient presents with cyanosis, arrhythmias, and failure to thrive. Diagnosis is confirmed by echocardiogram and management includes surgery.

References

  1. Sowmya B & Teresa T (2020). Tricuspid valve atresia. UpToDate. Retrieved January 7, 2021, from: https://www.uptodate.com/contents/tricuspid-valve-atresia
  2. Sadeghpour, A., & Alizadeasl, A. (2014). Tricuspid atresia. In A. Sadeghpour, M. Kyavar & A. Alizadehasl (Eds.), Comprehensive approach to adult congenital heart disease (pp. 233-235). London: Springer London. https://doi.org/10.1007/978-1-4471-6383-1_27
  3. Kliegman, R. M., M.D. et al. (2020). Cyanotic congenital heart disease: Lesions associated with decreased pulmonary blood flow. In R. M. Kliegman MD et al., Nelson textbook of pediatrics (pp. 239-2407.e1). https://www.clinicalkey.es/#!/content/3-s2.0-B9780323529501004570
  4. Rao, P. S. (2009). Diagnosis and management of cyanotic congenital heart disease: Part I. The Indian Journal of Pediatrics, 76(1), 57-70. https://link.springer.com/article/10.1007/s12098-009-0030-4
  5. Hoffman, J. I. E., & Kaplan, S. (2002). The incidence of congenital heart disease. https://www.sciencedirect.com/science/article/pii/S0735109702018867?via%3Dihub
  6. Reller, M. D., Strickland, M. J., Riehle-Colarusso, T., Mahle, W. T., & Correa, A. (2008). Prevalence of congenital heart defects in metropolitan Atlanta, 1998-2005. The Journal of Pediatrics, 153(6), 807-813. https://www.jpeds.com/article/S0022-3476(08)00481-2/fulltext
  7. Freedom, R. M., Silver, M., & Miyamura, H. (1989). Tricuspid and pulmonary atresia with coarctation of the aorta: a rare combination possibly explained by persistence of the fifth aortic arch with a systemic-to-pulmonary arterial connection. International journal of cardiology, 24(2), 241–245. https://www.internationaljournalofcardiology.com/article/0167-5273(89)90314-8/pdf

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