PRESENTED BY DR RAHUL D AGRAWAL

Historical Aspects
The first anatomic description of this malformation is

credited to the Danish anatomist Niels Stensen, in 1672

It was Fallot, however, in 1888 who correlated the

pathologic and clinical manifestations of this cardiac malformation, which he termed La maladie bleue

Historical aspect
In 1945, Alfred Blalock, Vivien Thomas, and Helen

Taussig conceived of and implemented the first surgical aortopulmonary shunt for palliation of cyanosis in a young girl with TOF Lillihei achieved intracardiac repair, using controlled cross-circulation, in a young boy with TOF

Incidence
Ten percent of all congenital heart defects.
The most common cyanotic cardiac defect beyond

infancy

Epidemiology
Tetralogy of Fallot is one of the most common form of

cyanotic congenital heart disease . A number of studies indicate that the prevalence of TOF ranges from 0.26 to 0.48 per 1,000 live births The Baltimore Washington Infant Study (BWIS), conducted between 1981 and 1989: TOF occurred in 0.33 per 1,000 live births

Syndromes
DiGeorge/Velocardiofacial Syndromes
Alagille Syndrome transcription factor Nkx2.5

Embryology
Normal development of the conotruncus involves

proper septation and alignment of the pulmonary and aortic outflow tracts above their respective ventricles. The embryologic precursors to the ventricular outflow tracts and great arteries are the distal bulbus cordis and truncus arteriosus, respectively.

 The net anatomic result of this regional

morphogenesis is the proper posterior alignment of the left outflow tract with the left ventricle and establishment of aortic-mitral continuity. The right ventricular outflow tract undergoes similar ultimate alignment with the right ventricle. In contrast to the left ventricular outflow tract, however, the right ventricular outflow tract retains its muscular properties in the form of a subpulmonic infundibulum, or conus

 TOF is believed to result from incomplete rotation and

faulty partitioning of the conotruncus during septation. Malrotation results in misalignment of the outlet and trabecular septum and straddling of the aorta over the malaligned ventricular septal defect. The subpulmonic obstruction, then, is created by abnormally anterior septation of the conotruncus by the bulbotruncal ridges.

T of F occurs as a result of abnormal cardiac septation

Normal development Abnormal development

Tetralogy of Fallot
Anterior deviation of

the outlet ventricular septum is the cause of all four abnormalities seen in tetralogy of Fallot.

Anatomy
Fallot's name refers to the tetrad of

right ventricular outflow obstruction, 2. aortic override, 3. ventricular septal defect, and 4. right ventricular hypertrophy
1.

Most characteristic and hallmark finding is the subpulmonic stenosis

 All patients with TOF demonstrate anterior and

cephalad deviation of this outlet septum, and the degree of this deviation determines the severity of subpulmonic obstruction. the deviation of the conal septum explains the presence of both the VSD and the overriding aorta. Because in all patients the VSD is large and nonrestrictive, the right ventricular hypertrophy is secondary.

Pulmonary stenosis
Common locations

Infundibulum 2. Pulmonary valve 3. Pulmonary trunk and branches 4. Sub infundibular

1.

Pulmonary stenosis
The antero-cephalad deviation of the outlet septum,

coupled with an anomalous relationship to the septoparietal trabeculations, results in a narrowing of the subpulmonary outflow tract The obstructive muscular subpulmonary area thus created is a dynamic entity.

Pulmonic Stenosis
Present in almost all the patients.
Pulmonary artery pressures are normal Additional areas of obstruction in RV outflow and

pulmonary artery. Areas of obstruction Distally are 1. pulmonary valvular apparatus, 2. supravalvular region, and 3. both proximal and distal pulmonary arterial bed

 extreme case of pulmonary atresia and VSD, there may

be severe hypoplasia, or even absence, of true pulmonary arteries. In this setting, pulmonary blood flow is often provided by the persistence of embryologic aortopulmonary collateral arteries.

Obstruction in RV
Obstruction within the right ventricular body also may

be present. There may be hypertrophy of the septoparietal muscle bundles with further extension of muscle to the right ventricular free wall. In addition, anatomic displacement of the normal moderator band attachment . This muscular obstruction is referred, doublechambered right ventricle

Pulmonary valve
additional areas of stenoses are common at the

valvular and supravalvular levels. The pulmonary valve is commonly small and stenotic. Moreover, there may be discrete supravalvular pulmonic obstruction at the level of the attachments of the pulmonary leaflets.

Pulmonary artery
The pulmonary arteries are also prone to focal or

diffuse obstruction or hypoplasia. Branch pulmonary artery obstruction, proximally or distally, is common. true embryologic pulmonary arteries are often absent or severely hypoplastic. In this situation, pulmonary blood flow is provided by aortopulmonary collateral

Branch pulmonary stenosis

Most commonly seen with the left pulmonary artery,
pulmonary artery anatomy may be further complicated

by narrowing or atresia of a branch pulmonary artery. Branch pulmonary artery atresia is most commonly recognized in patients with pulmonary valve atresia,

Ventricular Septal Defect

Formed due to anterior malalignment of septum.
In most of the patients the defect is perimembranous. Lesser number of patients the defect can be muscular.

Most common location is high basal position

immediately below aortic cusps. The defect is usually large and the size of aorta. In addition to the isolated large subarterial defect, additional ventricular septal defects also may be present occasionally

Aortic Override
Important in diffrentiating from DORV.
double-outlet right ventricle denotes the absence of

aortic-mitral continuity and requires the presence of both a subaortic and subpulmonic muscular conus whether the aorta is >50% committed to the right ventricle

Coronary Arteries
Variations in coronary artery anatomy are not

uncommon the most significant variations is the origin of the left anterior descending artery from the right coronary artery with a subsequent anterior course across the right ventricular outflow tract A large conal branch, or accessory left anterior descending artery, is seen in 15% of hearts

Aortic Arch Anomalies

aortic arch is right sided in TOF in approximately 25%

of cases There may be an associated aberrant origin of the ipsilateral subclavian artery from the descending aorta in a few patients with either a left or right aortic arch Rare patients have an isolated origin of the left subclavian artery from the pulmonary artery

Aortopulmonary Collateral Arteries

aortopulmonary collateral vessels have been reported

in TOF with isolated pulmonic stenosis Three different types exist Most common is type 1, or bronchial artery collaterals

Associated Cardiac Abnormalities

ASDs are reported to be present in most patients. In a

study by Rao et al. (62), a patent foramen ovale or a true atrial defect was found in 83% of hearts with TOF Anomalous pulmonary venous drainage has been reported in a few patients with TOF Coexistence of TOF and atrioventricular septal defect is often seen in children with trisomy 21

ANATOMICAL VARIANTS OF TOF & ASSCOCIATED ANOMALIES

Tetralogy of Fallot with pulmonary atresia
Lesion is at the most severe end of the spectrum of antero-cephal In ~ halfof patients with PA, the right and left pulmonary arteries are confluent, with blood to the pulmonary arteries flowing through the persistently patent arterial duct.

 In the other half, the pulmonary arterial supply is

multifocal. In these patients:if the pulmonary arteries are confluent or continuous, the blood supply will likely originate only from multiple aorto-pulmonary collateral arteries & if they are discontinous or absent, the blood supply to the lungs will originate from multiple collateral arteries, or from a combination of collateral arteries and an arterial duct
It is a general rule that a pulmonary segment will not

be supplied by both an arterial duct and a collateral artery

 In cases of complex supply of blood to the lungs, it is

necessary to determine the proportion of pulmonary parenchyma supplied by the intrapericardial pulmonary arteries as opposed to those parts supplied exclusively collateral arteries Though collateral arteries do not depend on prostaglandin for patency, they have the potential to stenose over time. In other instances, large collateral arteries can provide unrestricted flow to the lungs, thus producing hypertensive pulmonary vasculature Long term m/t is therefore complicated

TOF with absent pulmonary valve Malalignment of the outlet septum with rudimentary formation of the leaflets of pul valve,so called absent pulmonary valve syndrome
Seen in ~1/20 of those alleged to have TOF

The presence of rudimentary valvar leaflets arrayed in circular fashion at the ventriculo-pulmonary junction results in free pulmonary regurgitation throughout foetal life leading to chronic volume load of the RV which is transmitted to the pulmonary arteries leading to dilatation of pul arteries

 In severe cases inspiratory and expiratory stridor due to

compression of the airways by the dilated pulmonary arteries. Hence causes of cyanosis => 1. compression and obstruction of the airways 2. focal narrowing at the ventriculo-pulmonary junction 3. In most instances, but certainly not all, the arterial duct is also absent.

TOF with double outlet right ventricle

With pronounced aortic override, the aorta becomes

more committed to the RV than to LV resulting in many instances in the ventriculo-arterial connection of double outlet right ventricle.
Physiology on presentation is not altered, there are

important implications for surgical repair

 Patients with the aorta originating predominantly

from the RV are at greater risk of developing obstruction to the newly created left ventricular outflow tract, the latter produced by the patch which closes the ventricular septal defect while tunneling the left ventricle to the aorta. This patch, of necessity, is appreciably longer than when the aorta arises mostly from the left ventricle

TOF with atrioventricular septal defect

Atrioventricular septal defect combined with a

common atrioventricular junction

Found in 2% of patients with TOF

The presentation and initial medical management

remain unchanged, but surgical repair and postoperative care are more complex

Other anomalies asscociated: stenosis of the left pulmonary artery, in 40% a bicuspid pulmonary valve, in 40% right-sided aortic arch, in 25% coronary artery anomalies, in 10%

 a 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
forked ribs and scoliosis

Echocardiography
Two-dimensional echocardiography provides the cornerstone for noninvasive diagnosis of congenital heart lesions such as TOF The location and number of VSDs The anatomy and severity of right ventricular outflow tract obstruction The coronary artery and aortic arch anatomy The presence of any associated anomalies

Ventricular septal defect

The characteristic large malaligned VSD must be

evaluated in multiple views. The degree of aortic override can be best assessed in parasternal long axis and apical views The extension of the defect from the membranous septum, beneath the tricuspid valve, and into the infracristal outlet septum is well seen in the parasternal short axis view

Parasternal long axis

Parasternal long axis view in tetralogy of Fallot

Parasternal short axis view of tetralogy of fallot

modified parasternal long axis view

Right ventricular outflow obstruction

Parasternal short axis and subcostal coronal and

sagittal views allow the best examination of the infundibulum and pulmonary valve

CARDIAC CATH
Right ventricular angiography, using the cranially

angulated anterior-posterior and lateral projections, usually provides reliable imaging of the infundibular anatomy and pulmonary artery anatomy. The degree of subpulmonic obstruction and deviation of the outlet septum is also well profiled with a right anterior oblique projection

Right ventricular angiogram in tetralogy of fallot

LV angiogram
The ventricular septal defect is best seen from a left

ventricular injection in a long axial oblique projection With the AP camera in an RAO projection, one will often also see the infundibular obstruction from left to right flow across the VSD

LV ANGIO

 An aortic root injection will usually provide adequate

identification of the coronary arteries, although selective injections may occasionally be needed. . The arch and descending aorta may also be seen in this view and provide evidence of the presence of a patent ductus arteriosus or collateral vessels. If collateral vessels are identified, selective injections are helpful to assess the areas of the pulmonary bed that they supply and whether they are the sole supply to these areas