PRESENTATION

ON
TETRALOGY OF FALLOT 

K. VANI 
MSC NURSING 2 ND YEAR 
CT Specality
•HISTORY: 

•Tetralogy of Fallot was initially described

in 1671 by Niels Stensen. A further
description was published in 1888 by the
French physician 
Étienne-Louis Arthur Fallot, after whom it
is named. In 1924, Maude Abbott coined
the term "tetralogy of Fallot". 
•The first surgical repair was carried out in
1944 at Johns Hopkins. The procedure
was conducted by surgeon Alfred Blalock
 and cardiologist Helen B. Taussig, with 
Vivien Thomas 
DEFINITION: 

tetralogy of Fallot (TOF) is a congenital heart defect characterized by four

specific cardiac defects. Classically, the four defects are: 

pulmonary stenosis, narrowing of the exit from the right ventricle 

a ventricular septal defect, a hole between the two ventricles 

right ventricular hypertrophy, thickening of the right ventricular muscle 

an overriding aorta, which allows blood from both ventricles to enter the aorta. 
 • INCIDENCE: 
•The prevalence of Tetralogy of Fallot is estimated to be between 0.02 and 0.04%, which
corresponds to approximately 200 to 400 cases per million live births. It accounts for 7-10%
of all congenital heart abnormalities, making it the most common cyanotic heart defect.
Although males and females were initially believed to be affected equally, more recent
studies have shown the Tetralogy of Fallot affects males more than females. About 1 in 100
newborns is diagnosed with a congenital heart defect, of which 10% are diagnosed with
Tetralogy of Fallot. Genetically, it is most commonly associated with Down syndrome and
DiGeorge syndrome. Down syndrome and other chromosomal disorders are known to occur
alongside congenital heart defects such as Tetralogy of Fallot. 
 ETIOLOGY

•Specific genes associations with TOF include:

• JAG1 codes for ligands within the Notch family of proteins and is highly expressed in the developing
heart. Mutations of the JAG1 gene can lead to abnormal heart development associated with TOF.

• NKX2-5 codes for cardiac morphogenesis regulators to allow for proper heart development. Defects

in this gene typically causes septal defects and has been associated with around 4% of all TOF cases. 
• ZFPM2 is another cardiac regulator involved in regulation of GATA4. Mutations of the ZFPM2 gene
lead to reduced GATA production and have been seen in some TOF cases. 
•VEGF a well-known endothelial growth factor involved in the
vascularization of the heart. Decreased VEGF expression has
been shown to be a modifier of TOF.​
•NOTCH1 is involved in the vascularization of tissues and is
the most common site of genetic variations involved with TOF,
accounting for 7% of all TOF cases.​
•TBX1 expresses progenitors involved with the development of
the right ventricle. Chromosome 22q11 deletions also deleting
TBX1 gene have been seen in 17% TOF cases.
•FLT4 gene expression leads to Vascular endothelial growth factor receptor 3 (VEGFR-3)
Which helps vascularization. Mutations of this gene have been associated with TOF,
accounting for 2.4% of all cases. 
•FOXC2 is another gene involved in embryonic development of the cardiac system.[34]
 Mutations of this gene have been shown to result in dysfunctional lymphatic syndrome
and TOF. 
•GATA4 aids in cardiac development by helping increase the production of
cardiomyocytes. Mutations of this gene have been seen in various familial TOF cases often
lasting 2-3 generations. 
RISK FACTORS: 
•Additional anomalies 

•stenosis of the left pulmonary artery, in 40% 

•a bicuspid pulmonary valve, in 60% 

•right-sided aortic arch, in 25% 

•coronary artery anomalies, in 10% 

•a patent foramen ovale or atrial septal defect, in

which case the syndrome is sometimes called a
pentalogy of Fallot 
•an atrioventricular septal defect 

•partially or totally 
anomalous pulmonary venous return 
•DIAGNOSTIC
FINDINGS 
•History collection: 
•Physical Examination 

• Growth is usually normal unless cyanosis is extreme. 

• Clubbing of the fingers and toes occurs after 3 months

of age and is proportional to the level of cyanosis.  
•Varying degrees of cyanosis, tachypnea, and clubbing
(in older infants and children) are present. 
•Increased right ventricular activity is observed. 

• A systolic thrill may be palpable at the left midsternal

border, with a harsh midsystolic murmur in that
location.  
The shorter the murmur, the more severe the infundibular pulmonary
stenosis.  ​
• The first heart sound (S1) is usually normal  ​

• Second heart sound is characteristically single, because the pulmonary

component is too soft to be heard.  ​
• A continuous murmur is heard if a PDA or large collateral vessels are
present.  ​
• An early systolic ejection sound at the left sternal border and apex is
uncommon; its presence suggests primarily valvular pulmonary stenosis. ​
A long ejection systolic murmur at the upper and mid left sternal border
and a loud, single S2 are characteristic auscultatory findings of TOF. ​
•Emergency Medical Management of Tet Spells 

•Tet spells cause acute hypoxia and may be treated with: 

•Beta-blockers such as propranolol or esmolol. The beta-blockers cause relaxation of the 

right ventricular outflow tract and increases blood flow into the pulmonary vessels. 
•Morphine to reduce ventilatory drive 

•Phenylephrine to increase systemic afterload that in turn increases the flow across right ventricle
 and the pulmonary artery and decreases right to left shunting. 
•Oxygen is ineffective in treating hypoxic spells as
the underlying problem is lack of blood flow
through the pulmonary circuit and not alveolar
oxygenation. ​
•Prostaglandins ​

•Prostaglandins can be administered while awaiting 

surgery to maintain patency of the ductus arteriosus
. ​
•NURSING DIAGNOSIS : 

•Risk for delayed growth and development related to

effects of cardiac disease and necessary treatments.
Inadequate nutrition or frequent separation
from caregivers secondary to illness.

•Ineffective tissue perfusion related to inadequate cardiac

function or cardiac surgery an evidenced by pallor,
cyanosis, edema and changes in mental status, prolonged
capillary refill, clubbing at diminished pulses.
•Excess fluid volume related to ineffective
cardiac muscle function as evidenced by
weight gain, edema, jugular vein distention
,dyspnea, shortness of breath,
abnormal breath sounds.​

•Risk for infection related to
need for multiple invasive procedure of
cardiac surgery as evidenced by break in skin
integrity, decreased hemoglobin or
inadequate nutritional value.​
•Imbalanced nutrition less than body requirements
related to increased energy expenditure and fatigue as
evidenced by weight loss or height and weight
below accepted standards.​​

•interrupted family process related to crisis associated

with heart disease frequent need for testing and
hospitalization or stresses associated with care
demands as evidenced by inadequate coping frequent
separation of parent and child.​
COMPLICATIONS: 

Delayed growth and development 

Irregular heart rhythms (arrhythmias) 

Seizures as a result of hypoxia 

Stroke and embolic complications such as a brain abscess 

Pulmonary embolism 

Sudden cardiac death: The worse the right ventricle dysfunction,

the worse the risk for ventricular tachycardia and sudden death. 
Bacterial endocarditis 

Reoperation for pulmonary stenosis 

 FOLLOW UP 
Patients with repaired tetralogy of Fallot should have at least annual follow-up  

"2. Patients with tetralogy of Fallot should have echocardiographic examinations

and/or magnetic resonance imagings (MRIs) 

"3. Screening for heritable causes of their condition (e.g., 22q11 deletion) should be

offered to all patients with tetralogy of Fallot. 

"4. Before pregnancy or if a genetic syndrome is identified, consultation with a 

geneticist should be arranged for patients with tetralogy of Fallot. 

"5. Patients with unrepaired or palliated forms of tetralogy should have a formal
evaluation at an ACHD center regarding suitability for repair. 
•PROGNOSIS: 

•Unrepaired Tetralogy of Fallot 

•The survival for unrepaired tetralogy of Fallot is as follows: 

• 75% at one year 

• 70% at two years 

• 60% at four years 

• 50% at six years 

• 30% at ten years 

• 10% at twenty years 

• 5% at forty years 

•If pulmonary atresia is present as well, survival is even poorer with only 50% of
Repaired Tetralogy of Fallot 
•Patients with repaired tetralogy of Fallot now have the potential to lead normal lives with
continued excellent cardiac function. 
•Most survivors are in NYHA Class I heart failure. 
•Some patients have more pronounced symptoms with exertion. 
•Current techniques for total surgical repair greatly improve the hemodynamic function of the 
heart with tetralogy of Fallot but do not provide a lifetime correction of the defect. 
•Ninety percent of patients with total repair as infants develop a progressively leaky 
pulmonary valve (pulmonic insufficiency as the heart grows to its adult size. Patients also may
have some degree of residual right ventricular outflow obstruction and damage to the
conduction system of the heart from surgical corrections, causing conduction abnormalities on
the EKG and/or arrhythmias.