CONGENITAL HEART DISEASE

Dexter D. Cheng, M.D.

 Approach to Congenital Heart
Disease
HEART DISEASE

CONGENITAL ACQUIRED

ACYANOTIC CYANOTIC
 Congenital Heart Disease

• Congenital heart disease is an anatomic

malformation of the heart and / or its
vessels which occurs during intrauterine
development
 Congenital Heart Disease
Exclusions
• The following are EXCLUDED from the
overall incidence
– Bicuspid aortic valve (1-2%)
– PDA of preterm infants
– Patent foramen ovale (25%)
 Signs and Symptoms which may
suggest a congenital heart disease
• Cyanosis
• Cardiomegaly (Radiologic or Pericardial bulge)
• Pathologic heart murmur
• Tachypnea or overt respiratory distress
(dyspnea)
• Sweating especially during feeding (diaphoresis)
• Increased or decreased pulses
• Intermittency of feedings
• Failure to thrive
 Heart Disease Considerations
• Shunt anomalies – L to R or R to L
• Valve defects – atresia, regurgitation,
stenosis
• Obstruction to outflow or inflow of the
great vessels
• Abnormal connections of the great vessels
• Congenital coronary abnormalities
• A combination of the above
Approach to Congenital Heart
Disease
• Congenital vs. Acquired:
– HISTORY
• Maternal and family history
• Age of onset of symptoms
– Note exceptions:
» CHD w/ late onset manifestations
» Acquired heart diseases in the young
– PHYSICAL EXAMINATION
• Chromosomal syndromes
• Cyanosis, murmur, heart failure
• Complete cardiac physical examination
 Congenital Heart Disease
Ventricular Septal Defect
Atrial Septal Defect
Patent Ductus Arteriosus
Pulmonary Stenosis
Aortic Stenosis 85%
Coarctation of the Aorta
Tetralogy of Fallot
Transposition of the Great Arteries
Tricuspid Atresia / Pulmonary Atresia

Others
 Congenital Heart Disease
Atrial Septal Defect
Ventricular Septal Defect Left to Right
Patent Ductus Arteriosus Shunts (40%)

Pulmonary Stenosis
Obstructive
Aortic Stenosis
Lesions (25%)
Coarctation of the Aorta

Tetralogy of Fallot
Transposition of the Great Arteries Right to Left
Tricuspid Atresia / Pulmonary Atresia Shunts (20%)
 Congenital Heart Disease

ACYANOTIC DEFECTS

Increased Pulmonary Blood Normal Pulmonary

Flow Blood Flow
Increased Pulmonary Arterial Normal PVM on CXR
Vascular Markings on CXR
Obstructive
LR Shunts Lesions
(40%) (25%)
 Approach to Congenital Heart
Disease

ACYANOTIC DEFECTS

INC.PBF NORMAL PBF

LVH or CVH RVH LVH RVH

- VSD - ASD - AS or AR - PS
- PDA - PAPVR - CoA - CoA (infants)
(Partial
-CAVSD anomalous - Mitral - Mitral
pulmonary venous
return)
regurgitation stenosis
ASD

Hemodynamic Consequence
Diastolic overload of RV
 ASD
• PE
– Soft systolic murmur, fixed split S2
• ECG
– Normal to RAD
– IRBBB pattern; RVH
• CXR
– Mild RV cardiomegaly
– Dilated MPA; Hypervascular markings
ASD
VSD
Hemodynamic
Consequence
• MODERATE SIZE
– Volume overload of LV

• LARGE SIZE
– Volume overload of LV
– Pressure overload of RV
 VSD
• Most common L to R shunt
• Shunt is actually from left ventricle into
pulmonary artery
• Into right ventricle only with pulmonary
hypertension
 VSD
Natural History
• Location of defect
– Muscular and perimembranous have high
incidence of spontaneous closure
• Size of the defect
– Larger the defect, more likely to develop
congestive heart failure sooner
– Smaller the defect, more likely to be asymptomatic
• Pulmonary vascular resistance
– Pulmonary hypertension or high resistance will
limit total shunt flow
 VSD
Natural History
• Small VSD
– Normal growth & development
– No CHF
• Mod. to large VSD
– Easy fatigability, intermittent feeding
– Delayed growth & development
– Repeated respiratory tract infection
– CHF
 VSD
• Signs of CHF – large VSD
• Dynamic & bulging precordium
• Systolic thrill
• Pansystolic murmur at LPSB
• Normal to increased P2
 VSD
• ECG
– Small – Normal
– Moderate to large – LVH to CVH
– Severe PHTN – RVH
• CXR
– Normal to cardiomegaly (LV, combined to RV)
– Dilated MPA; hypervascular markings
VSD Small
VSD Large
 CAVSD

Complete Atrio-Ventricular Septal Defect, Endocardial Cushion Defect,

Canal Defect
 PDA
• In fetal life, shunts blood from pulmonary
artery to aorta
• At birth, an increase in arterial oxygen
concentration causes constriction of the ductus
• Functional closure by 24 hrs of life
• Normal anatomic closure is complete by 2
months in 90%
• Persistence of PDA beyond 4-6 months is
abnormal
PDA
• Hemodynamic
Consequence
• MODERATE SIZE
– Volume overload
of LV
• LARGE SIZE
– Volume overload
of LV
– Pressure overload
of RV
 PDA: Physical Examination
• Wide pulse pressure
• Dynamic precordium; thrill
• Continuous (machinery) murmur
• Soft to increased P2
• Bounding pulses
 PDA
• ECG
– Normal
– LVH, CVH or RVH
• CXR
– Normal
– Cardiomegaly (LV, CV or RV)
– Dilated MPA; hypervascular markings
– Dilated aorta
PDA
Pulmonary Stenosis (PS)
• Hemodynamic
Consequence
• Pressure
overload of RV
 PS
LA pressure
4 mmHg

90-
100ml
RA pressure
8 mmHg 100ml
90-
100ml
100ml
RV systolic /
EDP
60/8 mmHg

return
 PS
• 5 – 8% of CHD
• Associated with congenital rubella;
Noonan & William syndrome
• Types:
– Valvar, subvalvar (infundibular), supravalvar
or peripheral
• Manifestations: asymptomatic unless
severe
 PS
• Physical examination
– RV heave
– Systolic thrill (valve PS)
– Systolic ejection murmur LUSB with radiation
to the back (interscapular area and bilateral
axilla)
– Soft P2
 PS
• ECG
– RAD
– IRBBB if mild
– RVH

• CXR
– Normal or RV cardiomegaly
– Normal or dilated MPA (post-stenotic
dilatation)
AS
• Hemodynamic
Consequence
• Pressure
overload of LV
Coarctation of the Aorta
• Hemodynamic
Consequence
• Pressure
overload of LV
 Coarctation
• Physical examination
– LV heave
– Systolic murmur at the back
– Delayed or weak lower extremity pulses versus upper
extremity
• ECG
– LVH
– Left axis deviation
• CXR
– LVH
– Rib notching
Coarctation of the Aorta
Rib Notching
Cyanotic Heart Disease
 Approach to Congenital Heart
Disease
HEART DISEASE

CONGENITAL ACQUIRED

CYANOTIC
ACYANOTIC CYANOTIC
 Cyanotic Heart Disease
• Cyanotic heart disease exist when one
defect or association of defects allow the
mixture of oxygenated and de-saturated
blood to reach the systemic circulation
• R to L shunt
• 5 gm de-saturated Hgb/dL
• Ideal Hct for cyanotic hearts is 55-60 (58)
 Cyanotic Heart Disease
• O2 sat < 85% --clinically apparent
• Reduced Hgb >= 5 gm/dL
• Rule out other non-cardiac causes
• Central vs. peripheral cyanosis
• Hyperoxic test
 Do you suspect that patient is
Cyanotic?
A) Clubbing
B) Polycythemia: Elevated Hgb and Hct
C) Saturation by pulse oximeter in older infants
or children
D) Hyperoxia test in neonates or older
- 100% oxygen challenge for >= 10 minutes then
extract arterial blood sample from the right arm
(1st branch of aorta) to check the PaO2
 Hyperoxia Test
• Hyperoxia test is considered positive for
intracardiac shunting if PaO2 < 150 mmHg
(torr) after 10 minutes of 100% fiO2

• Negative test will show a PaO2 >

150mmHg which is suggestive of a
pulmonary disease
Tetralogy of Fallot (TOF)
• Aorta over riding
the ventricular
septum
• Large VSD
• Right ventricular
hypertrophy
• Severe
pulmonary
stenosis (PS)
 Approach to Congenital Heart
Disease

CYANOTIC DEFECTS

INC. PBF DEC. PBF

LVH or CVH RVH CVH LVH RVH

- Truncus - TGA-IVS - TGA-PS - TVA - TOF

- Single - TAPVR
Ventricle
- Truncus w/ - PVA-IVS - Ebstein
- HLHS
- TGA-VSD hypopl. PAs Anomaly
- Compex
- Compex heart NO PS - SV w/ PS - Eisenmenger
heart NO PS Syndrome
Tetralogy of Fallot (TOF)
• Hemodynamic
Consequence
• Pressure
overload of RV
 TOF
• Physical Examination
– Systolic ejection murmur
– Single S2 (soft P2)
– Cyanotic; clubbing of digits
• ECG – RAD; RVH
• CXR
– Boot shaped heart
– RV cardiomegaly
– Small MPA; hypovascular markings
Tetralogy of Fallot: Clubbing of Fingers
Tetralogy of Fallot: Clubbing of Toes
Tetralogy of Fallot: Squatting
TOF
 TOF
Natural History
• Cyanosis; hypoxic spell; squatting
• Polycythemia
• CVA; brain abscess
• Infective endocarditis
• RV failure
Transposition of the Great
Arteries (TGA)
• Hemodynamic
Consequence
• Pressure
overload of RV

• Best to have a
large atrial shunt
Transposition of the Great Arteries
(TGA)
• Palliative
– Prostaglandin infusion
– Create interatrial communication
• Balloon atrial septostomy (BAS) – Rashkind procedure
• Blade septostomy
• Atrial septostomy – Blalock-Hanlon procedure
• Stent insertion across the atrial septum
• Definitive
– Arterial switch – Jatene procedure
– Atrial switch – Senning or Mustard procedure
Tricuspid Atresia
• Hemodynamic
Consequence
• Volume overload
of LV

• Obligatory right to
left atrial shunt
 TAPVR
Total Anomalous Pulmonary Venous Return

• Hemodynamic Consequence
• Volume overload of RV
• Obligatory right to left
atrial shunt
 PVA – IVS
Pulmonary Valve Atresia with Intact Ventricular Septum

• Hemodynamic
Consequence
• Pressure
overload of RV

• Obligatory right to
left atrial shunt
• PDA dependent
pulmonary
circulation
 PVA – VSD
Pulmonary Valve Atresia with VSD
• Hemodynamic
Consequence
• Pressure
overload of RV

• PDA or collateral
dependent
pulmonary blood
flow
 PDA Dependent Pulmonary
Circulation
• Pulmonary valve atresia (PVA) with intact
interventricular septum
• Other lesions with accompanying PVA
 PDA Dependent Systemic
Circulation
• Hypoplastic left heart syndrome (HLHS)
• Interrupted aortic arch
 Obligatory LR shunting at the
Atrial Level
• Mitral atresia / aortic atresia
• Hypoplastic Left Heart Syndrome (HLHS)
 Obligatory RL shunting at the
Atrial Level
• Tricuspid Atresia
• Total Anomalous Pulmonary Venous
Return (TAPVR)
• Pulmonary Valve Atresia with intact
ventricular septum (PVA – IVS)
 Characteristic Cardiac Silhouette
Tetralogy of Fallot Coeuer en Sabot
Boot shape
Transposition of Great Egg shape
Arteries
Total anomalous Snowman
Pulmonary Venous Figure of 8
Return
TOF Boot Shaped Heart
TGA Egg shaped
 Pulmonary Vascular Markings
Increased: Cyanotic

Truncus Arteriosus TGA

Complex heart without PS Total Annomalous
Pulmonary Venous
Return (TAPVR)
Aortic / mitral atresia
 Pulmonary Vascular Markings
Decreased: Cyanotic

TOF Tricuspid Atresia

Complex heart with PS PVA with intact
ventricular septum
(PVA - IVS)
Complex heart with PVA PVA - VSD
 Hemodynamic Consequences
Heart Failure

A) Volume (Diastolic) overload

B) Pressure (Systolic) overload

C) Combination of both
 Hemodynamic Consequences
Heart Failure
• MILD
– Small VSD, PDA, ASD
– Mild Aortic Stenosis (AS) or Pulmonary
Stenosis

• MODERATE
– Mild – moderate AS or PS
– Non-critical Coarctation of the Aorta
– Large ASD
 Hemodynamic Consequences
Heart Failure
• SEVERE
– All cyanotic lesions (+/- heart failure)
– Large VSD
– Large PDA
– Critical AS / HLHS
– Critical PS
– Critical Coarctation of the aorta
– Complete atrioventicular septal defect (CAVSD)
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