Tetralogy of FallotTetralogy of FallotJimmy WangJimmy Wang

Children’s Memorial HospitalChildren’s Memorial Hospital

November 2, 2007November 2, 2007

TetralogyTetralogy

Comes from Attic Theater in GreeceComes from Attic Theater in Greece A compound work made up of 4 distinct works, A compound work made up of 4 distinct works,

intended to be viewed in one sittingintended to be viewed in one sitting Duology, Trilogy, Pentalogy, HeptalogyDuology, Trilogy, Pentalogy, Heptalogy

Famous TetralogiesFamous Tetralogies

Literature: Shakespeare’s Literature: Shakespeare’s Richard II, Henry IV, Richard II, Henry IV, Henry V, Henry VIHenry V, Henry VI

Movies: Lethal Weapon, Movies: Lethal Weapon, Die Hard, Jaws, Austin Die Hard, Jaws, Austin Powers, Indiana Jones Powers, Indiana Jones (2008), Rambo (2008), (2008), Rambo (2008), Terminator (2009), Shrek Terminator (2009), Shrek (2010)(2010)

Medicine: Tetralogy of Medicine: Tetralogy of FallotFallot Shrek 4 in 2010

Dr. Etienne FallotDr. Etienne Fallot

Initially described in Initially described in 1672 by Danish 1672 by Danish anatomist, anatomist, paleontologist, and paleontologist, and geologist, Niels Stensengeologist, Niels Stensen

Named after French Named after French physician Etienne-Louis physician Etienne-Louis Arthur Fallot in 1888, Arthur Fallot in 1888, who accurately who accurately described the 4 described the 4 anatomic abnormalities anatomic abnormalities in TOFin TOF

Dr. Etienne Fallot, 1850-1911

Niels Stensen

4 Characteristics in TOF4 Characteristics in TOF

VSDVSD Right ventricular Right ventricular

outflow tract outflow tract obstructionobstruction

Overriding aortaOverriding aorta Right ventricular Right ventricular

hypertrophyhypertrophy

Radiographics 2007;27:1323-1334.

Tetralogy of FallotTetralogy of Fallot

http://commons.wikimedia.org/wiki/Image:Tetralogy_of_Fallot.svg

RV Outflow ObstructionRV Outflow Obstruction

Spectrum of outflow obstructionSpectrum of outflow obstruction 45% stenosis at RV infundibulum45% stenosis at RV infundibulum 10% stenosis at pulmonic valve 10% stenosis at pulmonic valve 30% combination of PV and infundibular 30% combination of PV and infundibular

stenosisstenosis 15% atresia of the pulmonic valve15% atresia of the pulmonic valve

Hypoplasia of the pulmonary annulus and Hypoplasia of the pulmonary annulus and main PAmain PA

Ventricular Septal DefectVentricular Septal Defect

Perimembranous defect (involving fibrous Perimembranous defect (involving fibrous base of the pulmonic valve)base of the pulmonic valve)

Extends to subpulmonic regionExtends to subpulmonic region Needs to be large enough to equalize Needs to be large enough to equalize

pressures in R and L heart pressures in R and L heart

Overriding Aorta & RVHOverriding Aorta & RVH

Overriding aorta can be variableOverriding aorta can be variable RVH develops secondarily to long RVH develops secondarily to long

standing elevated RV pressures and standing elevated RV pressures and increased stroke volume from RV outflow increased stroke volume from RV outflow obstructionobstruction

Etiology/PrevalenceEtiology/Prevalence

Caused by anterior malalignment of the Caused by anterior malalignment of the conal septum, with underdevelopment of conal septum, with underdevelopment of the infundibulumthe infundibulum

Most common cyanotic congenital heart Most common cyanotic congenital heart defect in children beyond infancy (10%)defect in children beyond infancy (10%)

4-8% of all congenital cardiac lesions4-8% of all congenital cardiac lesions 3-6 cases per 10,000 live births3-6 cases per 10,000 live births

AssociationsAssociations

Stenosis or obstruction at the origin of the Stenosis or obstruction at the origin of the L pulmonary artery in 40%L pulmonary artery in 40%

Right aortic arch in 25% Right aortic arch in 25% ASD in 5%ASD in 5% Abnormal coronary arteries in 5%Abnormal coronary arteries in 5%

Most common: aberrant origin of the anterior Most common: aberrant origin of the anterior descending artery from the right coronary descending artery from the right coronary artery, crosses RV outflow tract (potential artery, crosses RV outflow tract (potential surgical disaster)surgical disaster)

Clinical PresentationClinical Presentation

Spectrum ranges from acyanotic TOF/pink Fallot Spectrum ranges from acyanotic TOF/pink Fallot (with L to R shunt) to classic Fallot to severe (with L to R shunt) to classic Fallot to severe cyanosis in pulmonary atresia with VSD cyanosis in pulmonary atresia with VSD

Most patients p/w cyanosis at or shortly after Most patients p/w cyanosis at or shortly after birthbirth

Milder cases may present later with SOB on Milder cases may present later with SOB on exertion with relief in squatting positionexertion with relief in squatting position

““Tet spells” – paroxysm of hyperpnea, irritability, Tet spells” – paroxysm of hyperpnea, irritability, crying, & cyanosis, requires immediate medical crying, & cyanosis, requires immediate medical attention, may lead to convulsion, CVA, or deathattention, may lead to convulsion, CVA, or death

Physical ExamPhysical Exam

Cyanosis, tachypnea, clubbingCyanosis, tachypnea, clubbing Auscultation: heart murmur usually audible Auscultation: heart murmur usually audible

at birth - single S2, long cresendo-at birth - single S2, long cresendo-decresendo systolic murmur at mid & decresendo systolic murmur at mid & LUSB (usually grade 3-5/6), also with LUSB (usually grade 3-5/6), also with holosystolic regurgitant murmur of VSDholosystolic regurgitant murmur of VSD

Chest Radiograph in TOFChest Radiograph in TOF

Heart size ranges from Heart size ranges from slightly small to slightly slightly small to slightly largelarge

Decreased pulmonary Decreased pulmonary vascular markingsvascular markings

Superiorly turned cardiac Superiorly turned cardiac apex – boot shaped heartapex – boot shaped heart

R atrial enlargementR atrial enlargement Concavity of the PA Concavity of the PA

segmentsegment

Radiographics 2007;27:1323-1334.

Medical ManagementMedical Management

Treat hypoxic “Tet” spells (positioning, Treat hypoxic “Tet” spells (positioning, morphine, oxygen, sodium bicarbonate, morphine, oxygen, sodium bicarbonate, phenylephrine, ketamine, propranolol)phenylephrine, ketamine, propranolol)

Oral propranolol (prevent hypoxic spells)Oral propranolol (prevent hypoxic spells) Balloon dilatation of RV outflow tract & PV Balloon dilatation of RV outflow tract & PV

to delay surgical repairto delay surgical repair Antibiotic prophylaxis against SBEAntibiotic prophylaxis against SBE

Palliative Shunt PlacementPalliative Shunt Placement

Indications for shunt vs. Indications for shunt vs. surgical repair vary between surgical repair vary between institutions, usually done for institutions, usually done for more complicated cases (TOF more complicated cases (TOF with pulmonary atresia, with pulmonary atresia, severely cyanotic <3 months, severely cyanotic <3 months, severe hypoxic spells)severe hypoxic spells)

Goal: increase pulmonary blood Goal: increase pulmonary blood flowflow

Classic Blalock-Taussig shunt, Classic Blalock-Taussig shunt, Gore-Tex interposition shunt: Gore-Tex interposition shunt: anastomotic shunt between anastomotic shunt between subclavian artery & ipsilateral subclavian artery & ipsilateral PAPA

Correctional Surgical InterventionCorrectional Surgical Intervention

Patch closure of VSD & Patch closure of VSD & widening of RV outflow widening of RV outflow tracttract Symptomatic: variable Symptomatic: variable

between institutions, after between institutions, after 3 months of age 3 months of age preferred, increased preferred, increased mortality in pts <3 monthsmortality in pts <3 months

Mildly cyanotic: 3-24 Mildly cyanotic: 3-24 months of agemonths of age

Asymptomatic/Acyanotic: Asymptomatic/Acyanotic: 1-2 years of age1-2 years of age

www.inova.com

TOF with Absent Pulmonary ValvesTOF with Absent Pulmonary Valves

Occurs in 2% of patients with TOFOccurs in 2% of patients with TOF Absent PV or irregular rudimentary PV leafletsAbsent PV or irregular rudimentary PV leaflets Stenotic PV annulus less severe than classic Stenotic PV annulus less severe than classic

TOF – results in bidirectional shunting through TOF – results in bidirectional shunting through VSD (predominantly L to R, mild cyanosis VSD (predominantly L to R, mild cyanosis evolves into CHF after newborn period)evolves into CHF after newborn period)

Massive pulmonary artery aneurysmal dilatation Massive pulmonary artery aneurysmal dilatation from severe pulmonary regurgitationfrom severe pulmonary regurgitation

Massive PA compresses lower central airways Massive PA compresses lower central airways => hypoplasia, post-obstructive complications => hypoplasia, post-obstructive complications (PNA, atelectasis), usual cause of death(PNA, atelectasis), usual cause of death

Absent Pulmonary ValvesAbsent Pulmonary Valves

Dilated main PA Dilated main PA and hilar PA’sand hilar PA’s

Hyperinflated Hyperinflated lungs from central lungs from central airway obstructionairway obstruction

Slightly increased Slightly increased pulmonary pulmonary vascular markings vascular markings to diffuse bilateral to diffuse bilateral opacification of opacification of CHF from L to R CHF from L to R shuntingshunting

D.R. - 12 year old maleD.R. - 12 year old male

History of Tetrology of Fallot with absent History of Tetrology of Fallot with absent pulmonary valvespulmonary valves

Surgical history: surgical repair on 6Surgical history: surgical repair on 6thth day day of life in 1995, had RV to PA conduit of life in 1995, had RV to PA conduit revision in 1997revision in 1997

Now p/w increasing fatigue and dyspnea Now p/w increasing fatigue and dyspnea following strenuous exercise (basketball, following strenuous exercise (basketball, football)football)

Gated FIESTA Axial

Post-gad

RV FIESTA Short Axis

FIESTA 4 chamber view

ReferencesReferences 1. Boechat MI, Ratib O, Williams PL, et al. Cardiac MR Imaging and MR 1. Boechat MI, Ratib O, Williams PL, et al. Cardiac MR Imaging and MR

Angiography for Assessment of Complex Tetralogy of Fallot and Pulmonary Angiography for Assessment of Complex Tetralogy of Fallot and Pulmonary Atresia. Radiographics 2005; 25:1535-1546.Atresia. Radiographics 2005; 25:1535-1546.

2. Ferguson EC, Krishnamurthy R, Oldham SA. Classic Imaging Signs of 2. Ferguson EC, Krishnamurthy R, Oldham SA. Classic Imaging Signs of Congenital Cardiovascular Abnormalities. Radiographics 2007; 27:1323-Congenital Cardiovascular Abnormalities. Radiographics 2007; 27:1323-1334.1334.

3. Park MK. Pediatric Cardiology, 43. Park MK. Pediatric Cardiology, 4thth Edition. St. Louis, Mosby, Inc 2002, pp. Edition. St. Louis, Mosby, Inc 2002, pp. 189-200.189-200.

4. Westra, SJ. “Tetralogy of Fallot,” [Online] Available https://my.statdx.com. 4. Westra, SJ. “Tetralogy of Fallot,” [Online] Available https://my.statdx.com. StatDx 2007.StatDx 2007.