Congenital Heart
Disease
Incidence and Etiology
Incidence of 1% in general population.
VSD is most common CHD
TOF is most common cyanotic CHD
TGA is most common cyanotic CHD
presenting in infancy
Etiology: Multifactorial inheritance 90%.
Chromosomal 5%
Single mutant gene 3%
Environmental 2%
Presentations
Asymptomatic heart murmer
Cyanosis
Congestive heart failure
Syncope
Shock
CHD in Chromosomal
Aberrations
Trisomy 21
Trisomy 18
Trisomy 13
XO Turner
Incidence Most common lesion
50%
VSD or A-V canal
90+%
VSD
90%
VSD
35%
CoA
CHD in Single Mutant
Gene Syndromes
Marfan’s
Noonan’s
Williams’
Holt-Oram
NF
Aortic aneurysm
PS, ASD
Supravalvular AS
ASD, VSD
PS, CoA
Teratogens and CHD
Alcohol
Phenytoin
Lithium
Rubella
Diabetes
Frequency
25-30%
2-3%
10%
35%
3-5%
Most common
VSD
PS,AS,CoA,PDA
Ebstein
PPS, PDA
Hypertrophic septum
TGA, VSD, CoA
(Incidence can be as high as 30-50% in poorly
controlled DM)
Lupus
PKU
50%
25-50%
3rd degree heart block
TOF, VSD, ASD
Presentations
Asymptomatic (heart murmur)
Cyanosis
Congestive heart failure
Syncope
Shock
Small VSD, ASD
D-TGA, TOF
Large L-R shunt
lesions
AS, PS
Coarc, hypoplastic
left heart
Birth
VSD
ASD|
PDA
CoA
AS
HLHS
TOF
TriA/S
PA
TGA
TA
TAPVR
2w
8w
4m 1y 3-5y
Adolescence
CHF
P. HTN
P. HTN
CHF
Often asymptomatic
Shock
Shock
CHF/HTN
CHF
CHF/syncope/murmur
Shock
Cyanosis
CHF
Shock/Cyanosis
Shock/Cyanosis
Cyanosis
HLHS=Hypoplastic left heart syndrome
Cyanosis/CHF
Shock/Cyanosis
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. VSD
2. ASD
3. PDA
4. Coarctation Aorta
5. Aortic Stenosis
6. Hypoplastic Left Heart
Cyanotic CHD with Decreased
Pulmonary Blood Flow
1. Tetralogy of Fallot
2. Tricuspid Atresia
3. Total Anomalous Pulmonary Venous
Return with obstruction
Cyanotic CHD with Increased
Pulmonary Blood Flow
1. Transposition of the Great Arteries
2. Truncus Arteriosus
3. Total Anomalous Venous Return without
obstruction
Acyanotic CHD with Increased
Pulmonary Blood Flow (Volume Load)
1. ASD
2. VSD
3. PDA
Acyanotic CHD with Pulmonary
Venous Congestion or Normal
Blood Flow (Pressure Load)
1.
2.
3.
4.
Coarctation Aorta
Aortic Stenosis
Hypoplastic Left Heart
Pulmonary Stenosis
Circulation before
birth
Circulation
after birth
Cyanotic CHD with Decreased
Pulmonary Blood Flow
1. Tetralogy of Fallot
2. Tricuspid Atresia
Tetralogy of Fallot
1.
2.
3.
4.
VSD
Pulmonary artery stenosis
Overriding aorta
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 position
Morphine sulfate
Vasoconstrictors
Propranolol
2. Iron for anemia
3. Surgical
a. Palliation
Blalock-Taussig
Waterston shunt
Pott’s operation
b. Corrective at 1-5 years of age
Tetralogy of Fallot
Tetralogy of Fallot
Tricuspid Atresia
Types
1. Normally related great arteries (69%)
With small VSD and PS (most common).
Intact septum with pulmonary atresia
Large VSD without PS
2. D-transposition of great arteries (28%)
3. L-transposition of great arteries (4%)
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:
• Radiology:
Systolic murmur with single S2
Variable
Decreased pulmonary vasculature
Treatment Tricuspid Atresia
1. PGE1 to keep ductus open
2. Balloon septostomy if no VSD
3. Surgical
a. Palliation
systemic-pulmonary shunt (PS)
pulmonary artery banding (large VSD)
b. Corrective
Fontan
Cyanotic CHD with Increased
Pulmonary Blood Flow
1. Truncus Arteriosus
2. Transposition of the Great Arteries
3. Total Anomalous Pulmonary Venous Return
Truncus Arteriosus
• Incidence
• Age at presentation
• Clinical
•
•
•
•
•
Rare
Neonatal
Cyanosis
Signs of CHF
Wide pule pressure and
bounding arterial pulses
• Harsh systolic murmur
• Auscultation
• Pulmonary vasculature • Increased
• BVH or RVH
• EKG
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, most
common 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 are
transposed
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 E
2. Surgical
a. Atrial septostomy if no VSD (Rashkind,
Blalock - Hanlon etc.)
b. Anatomical correction (Jatene’s operation)
TGA
TAPVR types
1. Supracardiac emptying in the left vertical
vein (most common type 80-90%) which
subsequently drains into the SVC
2. Cardiac emptying into the coronary sinus
or right atrium
3.Infradiaphragmatic emptying into vertical
vein that descends through diaphragm into
portal vein and or IVC
TAPVR
• Incidence
• Age at presentation
• Clinical findings
• EKG
• Radiology
• 2%
• Newborn
• Rapid cyanosis in the infradiaphragmatic 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. ASD
2. VSD
3. 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 rightleft)
Treatment VSD
1. Spontaneous closure of small VSD’s
2. Medical therapy (diuretics, digitalis)
3. Pulmonary artery banding
4. Surgical placement of patch over VSD
5. SBE prophylaxis
VSD
PDA
Clinical
Premature infants - Congestive
heart failure
Term infants - usually asymp murmur
Pulm. Vasculature Increased
Radiology
Dependent on size of shunt
Left atrial enlargement often present
Massive bulge at left upper mediastinum in
large shunts
Treatment
Premature infants - Indomethacin
Ligation and division of the ductus
Prostaglandin E infusion maintains ductal
patency when needed
PDA
Acyanotic CHD with Pulmonary
Venous Congestion or Normal
Blood Flow (Pressure Load)
1.
2.
3.
4.
Coarctation Aorta
Aortic Stenosis
Hypoplastic Left Heart
Pulmonary Stenosis
Coarctation of the Aorta
Incidence:
Clinical:
Radiology:
Associations:
Treatment:
5% of CHD
Preductal or infantile type presents in
young child with CHF and  LE pulses
Adult type presents with hypertension
and difference in arm and leg pulses
Rib notching - starts age 6-8
Often isolated
Turner’s, NF, William’s, Sturge-Weber
Primary repair
Prostaglandin E to infants
Rib notching
Aortic Stenosis
Clinical:
Pulm. Vasc.:
Associations:
Treatment:
Most asymptomatic
Angina
Syncope - may be fatal
Normal
Williams’ Syndrome
Medical
Surgical
No high impact sports
Hypoplastic Left Heart
Incidence:
Age at present.:
Clinical:
Pulm. Vasc.:
Radiology:
Treatment:
8% of all CHD, most common cause for
early cardiac death
Immediately at birth or first weeks
1st presentation is usually not cyanosis,
but signs of shock
Increased
Large cardiac silhouette
Prostaglandin E
Norwood procedure (high mortality)
Mitral Valve Prolapse Facts
More common in girls
 May be inherited as autosomal dominant trait with
variable expression
 Common in Marfan’s
 Dominant signs are ausculatory; late systolic
apical murmur preceded by a click
 PVC’s may be a complication
 Non progressive in children
 Endocarditis prophylaxis indicated only in
substantiated cases, usually those with mitral
insufficiencies
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 postductal saturation