TETRALOGY OF FALLOT

ODIA VICTOR EKENEDILICHUKWU

U2017/4710103
SN: 091
Outline
• Introduction
• Epidemiology
• Aetiology/Risk factors
• Pathophysiology
• Clinical features
• Differential Diagnosis
• Investigations
• Diagnosis And treatment
• Prognosis
• Prevention
• Conclusion
Epidemiology
• It is the commonest cyanotic cardiac defect beyond the neonatal
period. And accounts for 8-10 % of all cardiac defects.
• It occurs equally in males and females
Introduction
• Congenital Heart Disease (CHD) refers to a group of structural
abnormalities in the heart or major blood vessels that are present at
birth. These abnormalities develop during fetal growth, often in the
first trimester of pregnancy, and can affect the heart's structure,
function, or both. CHD is the most common type of birth defect,
affecting approximately 1% of newborns worldwide.
Tetralogy of fallot is a cyanotic congenital heart defect characterized by
a combination of these 4 defects.
i. Ventricular septal defect
ii. Pulmonary stenosis
iii. Overriding of the aorta
iv. Right Ventricular hypertrophy
Aetiology/Risk factors
• While the specific causes of TOF have not been fully identified, there
are various environmental or genetic factors that have been
associated with TOF.
• Genetic factors linked to TOF include various gene mutations or
deletions.
• Gene deletions associated with TOF include chromosome 22 deletion
as well as DiGeorge syndrome and down syndrome.
• Gene mutations in JAG 1, NKX2-5, ZFPM-2 have also been linked to it
Environmental factors
• Maternal diabetes
• Maternal alcohol consumption
• Maternal smoking
• Rubella (especially in 1st trimester)
• Advanced maternal age
Pathophysiology
• Ventricular septal defects are always large and are located at the
membranous part of the septum, the aorta appears to override this
septum thereby receiving blood from both ventricles.
• Pulmonary stenosis is usually infundibular , and this is responsible for
the right ventricular hypertrophy. This also determines the level of
right to left shunt leading to cyanosis.
• Initially there may be L-R shunt (pink tetrology ), however when PS
become severe , predominant R-L shunt (cyanosis ).
Clinical features

• Cyanosis
• Difficulty breathing
• Heart murmur: systolic ejection murmur ( either absent or markedly
reduced during tet spells )
• Finger clubbing
• dyspnea occurs on exertion
• Squatting
• uncomplicated TOF almost never goes into heart failure
• Delayed growth and development especially in severe cases
clinical features cont'd
• Delayed growth and development especially in severe casesclinical
features cont'd
• convulsions
• loss of consciousness
• Death
• uncomplicated TOF almost never goes into heart
Tet spells
• Paroxysmal hypercyanotic attacks (hypoxic, “blue,” or “tet” spells) are
a particular problem during the 1st 2 yr of life.
• Tet spells, also known as hypercyanotic spells or blue spells, are
sudden episodes of severe cyanosis (bluish discoloration of the skin
and mucous membranes) and hypoxia (low oxygen levels) commonly
experienced by individuals with Tetralogy of Fallot (TOF).
Cause of Tet Spells
• Decreased pulmonary blood flow:During a tet spell, there may be a further
decrease in pulmonary blood flow due to factors such as increased systemic
vascular resistance or obstruction at the level of the pulmonary valve.
• Increased right-to-left shunting: During a tet spell, there may be an
exacerbation of right-to-left shunting across the VSD, leading to a greater
proportion of deoxygenated blood being pumped into systemic circulation.
• Increased oxygen demand: Activities such as crying, feeding, or physical
exertion can increase the oxygen demand of the body. In individuals with
TOF, this increased oxygen demand may exacerbate cyanosis during a tet
spell, as the limited oxygenated blood supply from the lungs cannot meet
the body's increased metabolic needs.
• Autonomic dysregulation: It is hypothesized that autonomic nervous
system dysfunction may play a role in the occurrence of tet spells.
Factors such as stress, excitement, or pain may trigger sympathetic
nervous system activation, leading to increased systemic vascular
resistance and worsening cyanosis.
• Hypoxemia-induced systemic vasodilation: In response to hypoxemia
(low oxygen levels in the blood), there may be systemic vasodilation,
which further reduces systemic vascular resistance and exacerbates
right-to-left shunting of blood across the VSD.
• Clinically, tet spells are characterized by a sudden, marked increase in
cyanosis followed by syncope.
• Older children will often squat instinctively during a tet spell. This
increases systemic vascular resistance and allows for a temporary
reversal of the shunt.
• It increases pressure on the left side of the heart, decreasing the right
to left shunt, thus decreasing the amount of deoxygenated blood
entering the systemic circulation
Differential diagnosis
• Tricuspid Atresia (often associated with ASD)
• Eisenmenger syndrome( late cyanosis due to reversal of shunt from
L/R to R/L)
• Ebstein anomaly
Investigations
• Arterial blood gas- decreased PaO2
• Chest X-ray- normal cardiac size, upturned apex(boot shaped heart),
pumonary marking may be normal or decreased.
• Electrocardiogram- right axis deviation, right ventricular hypertrophy
and occassionally right atrial enlargement.
• Echocardiogram: large VSD/dilated aorta
• Cardiac catherization
• An angiogram
Treatment
• Medical or surgical.
• Medical treatment is indicated in tet spells, knee - chest position and
sedated with morphine and given oxygen.
• Sodium bicarbonate to treat the acidosis.
• Vasopressors- propanolol(0.5-1mg/kg/24hrs) to increase systemic
vascular resistance thereby decreasing left to right shunt.
• Beta blockers to reduce sympathetic nervous system activity and
decrease muscular contraction
Surgical treatment
• VSD repair: patch closure of the ventricular septal defect ensuring
correct aortal positioning above the left ventricle
• Enlargement of the RVOTO: resection of the obstructive infundibular
musculature
• If early surgical management is not possible: palliative shunts
• Blalock–Thomas–Taussig shunt: a palliative surgical procedure for TOF
that connects the subclavian artery to the pulmonary artery with an
interposed graft
• Central shunt
• Others (e.g., Potts shunt, Cooley shunt, Waterston shunt, Sano shunt)
Prognosis
• Without surgery, ∼ 50% of patients do not live past the first three
years of life.
• With corrective surgery, over 90% of patients live to > 25 years of age.
complications
• postoperative
• complete heart block
• pulmonary incompetence
• others: polycythemia, stroke ,cerebral abscess
Prevention
• General health promotion: Education on the environmental risk
factors for TOF.
• Specific protection: maternal diabetes, alcohol consumption and
smoking during pregnancy should be discouraged as this may
predispose the fetus to heart defects.
• Early diagnosis and prompt treatment- pulse oximeter can be used for
early screening to identify lesions like TOF. Correction of defect
surgically
• Limitation of disability- palliative surgeries (eg blalock taussig) can be
done early enough while awaiting a total correction.
• Rehabilitation- Lifestyle modifications, people with TOF should not
engage in strenuous activities (physically or psychologically) as this
can increase the peripheral vascular resistance thereby leading to
hypoxic attacks.
Conclusion
• Tetralogy of fallot is the most common cyanotic congenital defects,
prompt diagnosis and care is important to prevent mortality.