UPSC MainsMEDICAL-SCIENCE-PAPER-II20185 Marks
Q4.

A 10-month-old infant with "Tetralogy of Fallot" is brought to the paediatric emergency ward with history of excessive crying and then becoming dyspneic, drowsy and bluish.

How to Approach

This question requires a systematic approach to diagnosing a likely "Tet spell" in a child with Tetralogy of Fallot. The answer should detail the pathophysiology leading to the presentation, immediate management steps, and potential complications. Focus on recognizing the clinical signs, understanding the underlying mechanism, and outlining the initial stabilization measures. Structure the answer by first defining Tetralogy of Fallot, then explaining the pathophysiology of a Tet spell, followed by the immediate management protocol, and finally, potential complications.

Model Answer

0 min read

Introduction

Tetralogy of Fallot (TOF) is a congenital heart defect characterized by four distinct features: ventricular septal defect (VSD), pulmonary stenosis, overriding aorta, and right ventricular hypertrophy. It is one of the most common cyanotic heart defects. A “Tet spell,” or hypercyanotic spell, represents an acute exacerbation of pulmonary stenosis, leading to decreased pulmonary blood flow and increased right-to-left shunting through the VSD, resulting in profound hypoxemia. This presentation of excessive crying followed by dyspnea, drowsiness, and cyanosis in a 10-month-old infant strongly suggests a Tet spell and requires immediate intervention.

Understanding Tetralogy of Fallot and Tet Spells

Tetralogy of Fallot (TOF): As mentioned, TOF comprises four key defects. The severity of pulmonary stenosis dictates the clinical presentation. Mild stenosis may allow for longer survival with less cyanosis, while severe stenosis leads to early and significant cyanosis. The overriding aorta receives blood from both ventricles, and right ventricular hypertrophy develops as the heart attempts to overcome the pulmonary obstruction.

Pathophysiology of a Tet Spell: A Tet spell occurs when anything increases right ventricular outflow obstruction or decreases systemic vascular resistance. Common triggers include crying, agitation, dehydration, fever, and rapid position changes. These factors lead to:

  • Increased Right Ventricular Infundibular Stenosis: The infundibular stenosis (narrowing at the entrance to the pulmonary artery) worsens, further reducing pulmonary blood flow.
  • Decreased Systemic Vascular Resistance (SVR): Factors like dehydration or agitation can lower SVR.
  • Increased Right-to-Left Shunt: With reduced pulmonary blood flow and decreased SVR, more deoxygenated blood shunts from the right to the left ventricle through the VSD, causing profound hypoxemia.

Immediate Management in the Emergency Ward

The primary goal of management is to increase pulmonary blood flow and decrease right ventricular outflow obstruction. The following steps should be taken concurrently:

1. Positioning:

Place the infant in the knee-chest position. This elevates the chest and hips, increasing systemic vascular resistance and reducing venous return to the right heart, thereby decreasing the right-to-left shunt.

2. Oxygen Administration:

Administer 100% oxygen. While oxygen alone may not significantly improve arterial oxygen saturation in a Tet spell due to the shunt, it is crucial to maximize oxygen delivery.

3. Fluid Bolus:

Administer a normal saline bolus (10-20 ml/kg) to increase preload and systemic vascular resistance. However, caution is needed in infants with underlying heart failure.

4. Pharmacological Intervention:

  • Morphine Sulfate: Administer morphine (0.1-0.2 mg/kg IV/IM) to reduce infundibular spasm and decrease sympathetic tone, thereby reducing heart rate and contractility.
  • Beta-Blockers (Propranolol): In some cases, beta-blockers can be used to reduce infundibular spasm and heart rate. However, careful monitoring is essential.
  • Phenylephrine: If SVR remains low despite fluid resuscitation, phenylephrine (a vasopressor) can be used to increase SVR.

5. Sodium Bicarbonate:

If metabolic acidosis is present (as indicated by arterial blood gas analysis), administer sodium bicarbonate to correct the acidosis.

6. Continuous Monitoring:

Continuous monitoring of heart rate, respiratory rate, oxygen saturation, and arterial blood gases is essential to assess the response to treatment.

Potential Complications

Despite prompt intervention, Tet spells can lead to serious complications:

  • Severe Hypoxemia: Prolonged hypoxemia can cause brain damage and other organ dysfunction.
  • Metabolic Acidosis: Hypoxia leads to anaerobic metabolism and lactic acid accumulation.
  • Seizures: Severe hypoxemia can trigger seizures.
  • Cardiac Arrest: In severe cases, a Tet spell can lead to cardiac arrest.
  • Death: Without timely and appropriate intervention, a Tet spell can be fatal.

Ultimately, definitive treatment for TOF is surgical repair, typically involving closure of the VSD and relief of the pulmonary stenosis.

Conclusion

The presentation of a 10-month-old infant with excessive crying, dyspnea, drowsiness, and cyanosis is highly suggestive of a Tet spell in the context of Tetralogy of Fallot. Rapid recognition and immediate intervention, focusing on increasing pulmonary blood flow and systemic vascular resistance, are crucial to stabilize the infant. While pharmacological interventions can provide temporary relief, definitive management requires surgical correction of the underlying cardiac defect. Continuous monitoring and vigilance for potential complications are essential throughout the management process.

Answer Length

This is a comprehensive model answer for learning purposes and may exceed the word limit. In the exam, always adhere to the prescribed word count.

Additional Resources

Key Definitions

Cyanotic Heart Disease
A group of congenital heart defects that result in insufficient oxygenated blood reaching the systemic circulation, leading to cyanosis (bluish discoloration of the skin and mucous membranes).
Systemic Vascular Resistance (SVR)
The resistance the blood encounters as it flows through the systemic circulation. Higher SVR reduces the right-to-left shunt in TOF.

Key Statistics

Tetralogy of Fallot accounts for approximately 3-5% of all congenital heart defects. (Based on knowledge cutoff 2023)

Source: American Heart Association

The incidence of congenital heart defects, including TOF, is approximately 6-10 per 1,000 live births. (Based on knowledge cutoff 2023)

Source: Centers for Disease Control and Prevention (CDC)

Examples

Infant with TOF and a Tet Spell

A 6-month-old infant with known TOF experienced a Tet spell during a minor illness. The infant became acutely cyanotic and irritable. Prompt administration of oxygen, knee-chest positioning, and a morphine bolus successfully resolved the spell, demonstrating the effectiveness of initial management strategies.

Frequently Asked Questions

What is the long-term prognosis for children with Tetralogy of Fallot?

With surgical repair, the long-term prognosis for children with TOF is generally good. Most children can lead active and healthy lives. However, they may require lifelong follow-up with a cardiologist to monitor for potential complications such as pulmonary valve regurgitation, arrhythmias, and infective endocarditis.