Congenital Heart Disease

Incidence of 1% in general population.VSD is most common CHDTOF is most common cyanotic CHDTGA is most common cyanotic CHD presenting in infancy

Etiology: Multifactorial inheritance 90%.Chromosomal 5%Single mutant gene 3%Environmental 2%

Incidence and Etiology

Presentations

Asymptomatic heart murmerCyanosisCongestive heart failureSyncopeShock

CHD in Chromosomal Aberrations

Incidence Most common lesionTrisomy 21 50% VSD or A-V canalTrisomy 18 90+% VSDTrisomy 13 90% VSDXO Turner 35% CoA

CHD in Single MutantGene Syndromes

Marfan’s Aortic aneurysmNoonan’s PS, ASDWilliams’ Supravalvular ASHolt-Oram ASD, VSDNF PS, CoA

Teratogens and CHD

Frequency Most commonAlcohol 25-30% VSDPhenytoin 2-3% PS,AS,CoA,PDALithium 10% EbsteinRubella 35% PPS, PDADiabetes 3-5% Hypertrophic septum

TGA, VSD, CoA(Incidence can be as high as 30-50% in poorlycontrolled DM)Lupus 50% 3rd degree heart blockPKU 25-50% TOF, VSD, ASD

Presentations

Asymptomatic (heart murmur) Small VSD, ASDCyanosis D-TGA, TOFCongestive heart failure Large L-R shunt

lesionsSyncope AS, PSShock Coarc, hypoplastic

left heart

Birth 2w 8w 4m 1y 3-5y Adolescence

VSD ASD|PDACoAASHLHSTOFTriA/SPATGATATAPVR

CHF

CHF

Shock

Shock

Shock

P. HTN

P. HTN

Often asymptomatic

Cyanosis CHF

CHF CHF/syncope/murmur

CHF/HTN

Shock/Cyanosis

Shock/Cyanosis

Cyanosis

Cyanosis/CHF

Shock/Cyanosis

HLHS=Hypoplastic left heart syndrome

TriA/S=Tricuspid atresia

CHF=Congestive heart failure

P.HTN=Pulmonary hypertension

FTT=Failure to thrive

Cyanotic CHD

1. Truncus Arteriosus

2. Transposition of the Great Arteries

3. Tricuspid Atresia

4. Tetralogy of Fallot

5. Total Anomalous Pulmonary Venous Return

Acyanotic CHD

1. VSD2. ASD3. PDA4. Coarctation Aorta5. Aortic Stenosis6. Hypoplastic Left Heart

Cyanotic CHD with Decreased Pulmonary Blood Flow

1. Tetralogy of Fallot2. Tricuspid Atresia3. Total Anomalous Pulmonary Venous Return with obstruction

Cyanotic CHD with Increased Pulmonary Blood Flow

1. Transposition of the Great Arteries2. Truncus Arteriosus 3. Total Anomalous Venous Return withoutobstruction

Acyanotic CHD with IncreasedPulmonary Blood Flow (Volume Load)

1. ASD2. VSD3. PDA

Acyanotic CHD with PulmonaryVenous Congestion or NormalBlood Flow (Pressure Load)

1. Coarctation Aorta2. Aortic Stenosis3. Hypoplastic Left Heart4. Pulmonary Stenosis

Circulation beforebirth

Circulationafter birth

Cyanotic CHD with Decreased Pulmonary Blood Flow

1. Tetralogy of Fallot2. Tricuspid Atresia

Tetralogy of Fallot1. VSD2. Pulmonary artery stenosis3. Overriding aorta4. Right ventricular hypertrophy

Tetralogy of Fallot

• Incidence of total CHD

• Age at presentation• Clinical

• Auscultation

• Most common cyanotic CHD

• Usually by 6 months• Cyanosis• Cyanotic spells (squatting)• Harsh systolic murmur• Softer if worsening

obstruction

Tetralogy of Fallot

• Radiology

• EKG

• Decreased pulmonary vascularity

• Boot-shaped heart• R-sided aortic arch• RAD, RAE, RVH

TOF treatment

1. For cyanotic spells: Knee-chest positionMorphine sulfateVasoconstrictorsPropranolol

2. Iron for anemia3. Surgicala. Palliation Blalock-Taussig

Waterston shuntPott’s operation

b. Corrective at 1-5 years of age

Tetralogy of Fallot

Tetralogy of Fallot

Tricuspid Atresia

1. Normally related great arteries (69%)With small VSD and PS (most common).Intact septum with pulmonary atresiaLarge VSD without PS

2. D-transposition of great arteries (28%)

3. L-transposition of great arteries (4%)

Types

Tricuspid Atresia• Incidence:• Age at presentation

• Clinical– No obstruction

pulmonary blood flow

– Obstruction pulmonary blood flow

• Rare• Infancy, depending on pulmonary

blood flow

• Congestive heart failure Similar to VSD Cyanosis

• Variable More intense cyanosis as ductus closes

Tricuspid Atresia

• Auscultation: Systolic murmur with single S2

• Radiology:Variable Decreased pulmonary vasculature

Treatment Tricuspid Atresia

1. PGE1 to keep ductus open2. Balloon septostomy if no VSD3. Surgicala. Palliation

systemic-pulmonary shunt (PS)pulmonary artery banding (large VSD)

b. CorrectiveFontan

Cyanotic CHD with Increased Pulmonary Blood Flow

1. Truncus Arteriosus2. Transposition of the Great Arteries3. Total Anomalous Pulmonary Venous Return

Truncus Arteriosus• Incidence• Age at presentation• Clinical

• Auscultation• Pulmonary

vasculature• EKG

• Rare• Neonatal• Cyanosis• Signs of CHF• Wide pule pressure

and bounding arterial pulses

• Harsh systolic murmur• Increased• BVH or RVH

Truncus Arteriosus

• Associations

• Treatment

• Right sided aortic arch• Thymic aplasia - DiGeorge

Syndrome• Medical• Pulmonary artery bending• Rastelli’s operation

Truncus Arteriosus

Transposition of the Great Vessels D-type

D-transposition, complete transposition, mostcommon form

-Aorta arises from the right ventricle.-Pulmonary artery arises from the left ventricle. -PDA is the only connection between systemic and pulmonary circulations, although VSD in 40%.

Transposition of the Great Vessels L-type

L-transposition, also called corrected transposition

-Both ventricles and great vessels aretransposed

D-TGA• Incidence

• Age presentation

• Clinical

• Auscultation• Radiology

• EKG

• 8% of all CHD• Male:female 2:1• Newborn, when ductus closes• Cyanosis within 1st 48 hrs if no

VSD• CHF when large left to right

shunts • Loud single S2, no murmur• Egg-on-a-string heart• Increased pulmonary

vasculature, depending on size shunt

• RVH

Treatment for D-TGA

1. Prostaglandin E2. Surgicala. Atrial septostomy if no VSD (Rashkind, Blalock - Hanlon etc.)b. Anatomical correction (Jatene’s operation)

TGA

TAPVR types

1. Supracardiac emptying in the left verticalvein (most common type 80-90%) which subsequently drains into the SVC

2. Cardiac emptying into the coronary sinusor right atrium

3.Infradiaphragmatic emptying into verticalvein that descends through diaphragm intoportal vein and or IVC

TAPVR

• Incidence• Age at

presentation• Clinical findings

• EKG• Radiology

• 2%• Newborn• Rapid cyanosis in the

infra-diaphragmatic type• Non-obstructive similar to

ASD plus mild cyanosis• RVH• “Snowman” configuration• Diffuse reticular opacities• Looks like HMD without

air bronchograms!

TAPVR

• Associations

• Treatment

• Polysplenia• Asplenia (3/4 patients also

TAPVR)• Surgical ligation of anomalous

vein

Total anomalous venous return

Acyanotic CHD with Increased Pulmonary Blood Flow (left to right shunt lesions)

1. ASD2. VSD3. PDA

ASD• Incidence• Types

• Age presentation

• Clinical

• Auscultation• EKG• Treatment

• 10% CHD• Ostium secundum (most

common)• Sinus venosus defect• Ostium primum (AV canal)• Varies• Mostly asymptomatic• Slender body build• Widely split and fixed S2! +

SEM• RAD and RVH• No SBE coverage needed!• Surgery for large shunts

ASD

VSD• Incidence

• Types

• Age presentation

• Most common CHD (20%)• Coexists with other lesions in

5%• Membranous (80%)• Muscular (10%)• Large - at age 2-3 months

with congestive failure• Small to moderate - usually

asymptomatic

VSD

• Clinical

• Auscultation

• Congestive heart failure if large

• Poor weight gain• Systolic thrill with

holosystolic murmur at LLSB• Diastolic murmur with large

shunts and loud P2 with pulmonary hypertension

• Diastolic rumble at apex indicates CHF

VSD• EKG

• Radiology

• Associations

• Complications

• 1. normal if small VSD• 2. LAE-LVH if moderate• 3. LAE-BVH if large• 4. RVH-PVOD• Increased vascularity with larger

shunts and enlargement cardiac size

• Holt-Oram syndrome, Down’s, Trisomy 13, Trisomy 18

• Eisenmenger’s Syndrome (shunt reverses to rightleft)

Treatment VSD

1. Spontaneous closure of small VSD’s2. Medical therapy (diuretics, digitalis)3. Pulmonary artery banding4. Surgical placement of patch over VSD5. SBE prophylaxis

VSD

PDA

Clinical Premature infants - Congestiveheart failureTerm infants - usually asymp murmur

Pulm. Vasculature IncreasedRadiology Dependent on size of shunt

Left atrial enlargement often presentMassive bulge at left upper mediastinum inlarge shunts

Treatment Premature infants - IndomethacinLigation and division of the ductusProstaglandin E infusion maintains ductalpatency when needed

PDA

Acyanotic CHD with PulmonaryVenous Congestion or NormalBlood Flow (Pressure Load)

1. Coarctation Aorta2. Aortic Stenosis3. Hypoplastic Left Heart4. Pulmonary Stenosis

Coarctation of the AortaIncidence: 5% of CHDClinical: Preductal or infantile type presents in

young child with CHF and LE pulsesAdult type presents with hypertension and difference in arm and leg pulses

Radiology: Rib notching - starts age 6-8Associations: Often isolated

Turner’s, NF, William’s, Sturge-WeberTreatment: Primary repair

Prostaglandin E to infants

Rib notching

Aortic Stenosis

Clinical: Most asymptomaticAnginaSyncope - may be fatal

Pulm. Vasc.: NormalAssociations: Williams’ SyndromeTreatment: Medical

SurgicalNo high impact sports

Hypoplastic Left HeartIncidence: 8% of all CHD, most common cause for

early cardiac deathAge at present.: Immediately at birth or first weeksClinical: 1st presentation is usually not cyanosis,

but signs of shockPulm. Vasc.: IncreasedRadiology: Large cardiac silhouetteTreatment: Prostaglandin E

Norwood procedure (high mortality)

Mitral Valve Prolapse FactsMore common in girls May be inherited as autosomal dominant trait withvariable expression Common in Marfan’s Dominant signs are ausculatory; late systolicapical murmur preceded by a click PVC’s may be a complication Non progressive in children Endocarditis prophylaxis indicated only insubstantiated cases, usually those with mitralinsufficiencies

Blalock-Taussig shunt. The subclavian artery is transected

and anastomosed in a end-to-side fashion to the ipsilateral

pulmonary artery. Usually the subclavian artery opposite

to the arch is used.

The Modified Blalock-Taussig shunt now uses a Goretex

graft (green) to connect the subclavian artery to the

pulmonary artery. This preserves the subclavian artery.

Potts shunt is where a side-to-side anastomosis is made between the

descending aorta and the pulmonary artery.

The Waterston-Cooley shunt is similar to the Potts shunt. A side to

side anastomosis or window is created between the pulmonary artery

and the ascending aorta. The difference is that it is the ascending

aorta (Waterston-Cooley) rather than the descending aorta which is

anastomosed to the pulmonary artery (Potts).

Pearls

• Bounding pulses; think PDA or AV fistula.• Widely fixed split second heart tone; think

ASD.• No pre- and postductal saturation differences

– when there is total mixing of deoxygenated venous blood with oxygenated pulmonary blood in the heart; such as -total anomalous pulmonary venous return

-truncus arteriosus

Pearls

• Pre- and post-ductal saturation differences

– post-ductal saturation is higher in TGA– all other congenital heart anomalies without

total mixing in the heart have a lower post-ductal saturation