Critical medicine topic-CMT 017

TETRALOGY OF FALLOT (TOF)

A CLINCAL PROFILE

Tetralogy of Fallot (TOF) | Nemours KidsHealth

Definition

Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease after the first year of life, accounting for approximately 10% of all congenital heart defects. It is characterized by four anatomical abnormalities that result in reduced pulmonary blood flow and right-to-left shunting, leading to cyanosis.


The Four Cardinal Features (Tetralogy)

1.   Ventricular Septal Defect (VSD)

o   Usually a large, high membranous VSD located beneath the right coronary cusp of the aortic valve.

o   Allows free communication between the right and left ventricles.

2.   Right Ventricular Outflow Tract (RVOT) Obstruction

o   Most commonly due to infundibular (subpulmonary) stenosis.

o   May also involve valvular, supravalvular, or peripheral pulmonary artery stenosis.

o   Severity determines the degree of cyanosis.

3.   Overriding Aorta

o   The aorta is displaced anteriorly and receives blood from both ventricles.

o   It overrides the ventricular septal defect.

4.   Right Ventricular Hypertrophy

o   Develops secondary to chronic pressure overload caused by RV outflow obstruction.


Pathophysiology

The clinical severity of TOF depends primarily on the degree of right ventricular outflow tract obstruction.

  • Mild obstruction results in relatively normal pulmonary blood flow with minimal cyanosis.
  • Severe obstruction markedly reduces pulmonary blood flow.
  • Blood preferentially passes from the right ventricle through the VSD into the aorta (right-to-left shunt).
  • Deoxygenated blood enters the systemic circulation, producing cyanosis.
  • Chronic hypoxemia stimulates erythropoietin production, leading to secondary polycythemia.

Types of Pulmonary Outflow Obstruction

1. Infundibular (Subpulmonary) Stenosis

  • Present as the only obstruction in approximately 50% of patients.
  • Caused by narrowing of the muscular outflow tract.

2. Combined Infundibular and Valvular Stenosis

  • Seen in approximately 25% of patients.
  • Produces more severe obstruction.

3. Supravalvular Pulmonary Stenosis

  • May occur as an associated lesion.

4. Peripheral Pulmonary Artery Stenosis

  • May involve one or multiple pulmonary artery branches.

Hemodynamic Consequences

  • Increased right ventricular pressure.
  • Right-to-left shunting through the VSD.
  • Decreased pulmonary blood flow.
  • Systemic arterial desaturation.
  • Cyanosis.
  • Secondary erythrocytosis (polycythemia).
  • Progressive right ventricular hypertrophy.

Coronary Artery Anomalies

Associated coronary artery abnormalities are relatively common and are important during surgical repair.

Examples include:

  • Left anterior descending artery arising from the right coronary artery.
  • A single right coronary artery giving rise to a left coronary branch that crosses anterior to the pulmonary trunk.

These anomalies influence the surgical approach and must be identified preoperatively.


Clinical Features

Clinical manifestations depend on the severity of pulmonary stenosis.

Mild Obstruction

  • Minimal cyanosis
  • Mild exercise intolerance
  • Delayed presentation

Severe Obstruction

  • Marked cyanosis
  • Dyspnea on exertion
  • Cyanotic ("tet") spells
  • Squatting episodes in children
  • Clubbing of fingers and toes
  • Secondary polycythemia
  • Poor growth and exercise capacity

Key Points

  • Accounts for approximately 10% of congenital heart disease.
  • Most common cyanotic congenital heart disease after infancy.
  • Consists of VSD, RVOT obstruction, overriding aorta, and RV hypertrophy.
  • Severity depends mainly on the extent of pulmonary outflow obstruction.
  • Severe obstruction causes right-to-left shunting, cyanosis, and polycythemia.
  • Coronary artery anomalies are common and are important during surgical correction.

Examination Pearls

  • Most important determinant of symptoms: Severity of right ventricular outflow tract obstruction.
  • Cause of cyanosis: Right-to-left shunting through the VSD.
  • Cause of polycythemia: Chronic hypoxemia.
  • Most common obstruction: Infundibular (subpulmonary) stenosis.
  • Classic four defects: VSD, pulmonary stenosis, overriding aorta, and right ventricular hypertrophy.

DR.C.GANESAN M.D.,

PROFESSOR OF MEDICINE

 

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