Congenital heart diseases

Principle differences in fetal
circulation compared to
post-natal circulation:
Combined ventricular output
Three critical anatomic communications
PFO (from RA to LA)
PDA (from PA to AO)
Ductus venosus (from UV to IVC)
Organ responsible for oxygenation is Placenta

CARDIAC EVALUATION
History
Infants
feeding difficulties
Easily fatigued
Sweating while feeding
Tachypnea
Poor weight gain
Older children:
shortness of breath
dyspnea

CARDIAC EVALUATION
Physical examination
HR , RR
Assess adequate growth
Upper/lower BP
Rales
Hepatomegaly
Cyanosis/clubbing

CARDIAC EVALUATION
Diagnostic tests
Chest X-ray
ECG
Echocardiography
Others: MRI ,cardiac catheterization , angiography, exercise testing.

CARDIAC EVALUATION
Murmur
Innocent versus pathologic
Murmur is pathologic if one or more :
Symptoms
Cyanosis
Grade 3/6 or higher
Thrill
Diastolic
Abnormal heart sounds
Abnormally strong or weak pulse

Structural heart disease
Acyanotic
with shunt
ASD
VSD
PDA
Cyanotic
TOF
TGA
Truncus
Tricuspid Atresia
TAPVR
Non Shunt lesions
Obstruction
Aortic stenosis AS
Supravalvar AS
Subaortic S
Coarctation
Mitral Stenosis
Pulmonary Stenosis
HLHS
Regurgitation
Aortic regurgitation
Mitral regurgitation
Pulmonary reg.

General causes of Cyanosis
Pulmonary
Cardiac
Others
Airway disease
Intrapulmonary
shunting
Intracardiac
shunting
Cyanosis

Hyperoxia test
Administration of 100% O2 for 15 minutes
Measure arterial PO2
PO2 <150
PO2 >250
PO2 150-250
Cardiac
Pulmonary
Gray zone

Left to Right shunt
Portion of fully oxygenated pulmonary venous blood bypassing the systemic flow and going back to the lungs
? In-effective pulmonary blood flow
? S&S of Increased pulmonary blood flow

Left to right shunts
Physiologic effect of the shunt is dependent on three factors:
Location of the shunt
Size of the defect
Relative pulmonary and systemic vascular resistance (or ventricular compliance in case of atrial level shunts)

Congenital Heart Lesions that INCREASE Pulmonary Arterial Blood Flow
Atrial Septal Defect
Complete Atrioventricular Canal
Ventricular Septal Defect
Patent Ductus Arteriosis
Total Anomalous Pulmonary Venous Connection
Truncus Arteriosus

Congenital Heart Disease
ACYANOTIC CONGENITAL HEART DISEASE
Left to right shunts
Ventricular septal defect (VSD)
Most common congenital heart disease
Shunt determined by the ratio of PVR to SVR
As PVR falls in first few weeks of life , shunt increases
When PVR>SVR , Eisenmenger syndrome.

Congenital Heart Disease

Ventricular septal defect (VSD)
Clinical findings
Asymptomatic if small defect with normal pulmonary artery pressure (most)
Large defect- dyspnea , feeding difficulties , poor growth , sweating , pulmonary infection , heart failure
Harsh halosystolic murmur over lower left sternal border +/- thrill
Male affected as female
Small defect <2cm and large one >2cm

Types of VSD
Perimembranous (conoventricular defect)
Commonest type of VSD
Defect is under the aortic valve? There is incidence of aortic valve prolapse and AI
Muscular VSD
Can be single or multiple
Inlet Type VSD (AV canal type)
Complete AV canal is common in Trisomy 21
Sub-pulmonary (conal septal hypoplasia VSD)
Rare
Incidence of aortic valve prolapse

Ventricular Level Shunt: Physiology
VSD causes Pressure load on the right ventricle causing RVH, and Volume load on the left atrium and ventricle leading to dilation
Shunt occurs during Systole (ventricular emptying)
Cardiac output is well maintained even in large VSD’s

Diagnostic studies
ECG: (beyond infancy)
Left axis deviation
LVH
Left atrial dilation
Northwest (superior) axis in AV canal defects
CXR shows cardiomegally, and increased pulmonary vascular markings in significant VSD’s

Management
No restriction from activity
No SBE prophylaxis (the newer guidelines)
Spontaneous closure is common in small and moderate perimembranous and muscular defects
AV canal type VSD’s don’t close spontaneously
Surgical treatment is the standard treatment for symptomatic VSD’s

Ventricular septal defect (VSD)
Complications
Large defects lead to HF, failure to thrive
Endocarditis
Pulmonary hypertension

Atrial Septal Defect
Acyanotic; asymptomatic, or dyspnea on exertion.
Right ventricular lift.
Fixed, widely split second heart sound.
Female more affected (3 to 1 )
Sporadic or AD

Types of ASD
Ostium secundum ASD:
Commonest type
Deficiency of septum primum
Can be one defect or multiple (fenestrated)
Mostly isolated
Ostium Primum ASD
Also called partial AV canal defect (No VSD component)
Frequently associated with cleft mital valve with MR
Sinus Venosus ASD
SVC type much more common than IVC type
Majority associated with partial anomalous pulmonary venous return
Coronary sinus ASD
Rare
Defect is the os of the coronary sinus with partial or complete un-roofing of the sinus

Atrial Level Shunt: Physiology
ASD causes volume load on the right atrium, and right ventricle leading to dilation of these structure
Majority of the shunt occurs during diastole (ventricular filling)
Cardiac output is well maintained even in large ASD’s

Examination
Normal in young infants
Prominent RV heave
Wide, fixed S2
Ejection systolic murmur
Diastolic rumble

Atrial spetal defect
Treatment
Most in term infants close spontaneously; symptoms often do not appear until third decade
Surgery or transcatheter device closure for all symptomatic patients.
Complications
Dysrhythmia
Low-flow lesions; does not require endocarditic prophylaxis

Management
No restriction from activity
No SBE prophylaxis
No medications
Observation for spontaneous closure if secundum type and no significant volume overload on the right ventricle
Closure is indicated for significant secundum ASD’s, and all primum and SV ASD’s

Atrial Septal Defect

Atrial Septal Defect

Complete Atrioventricular Canal

Complete Atrioventricular Canal
Heart failure common in infancy.
Cardiomegaly, blowing pansystolic murmur, other variable murmurs.
Deficiencies of both atrial and ventricular septal cushions and abnormalities of both mitral and tricuspid valves.

Complete Atrioventricular Canal
Partial and complete AV canal defects frequently accompany Down’s syndrome.
Early surgical correction.
Reconstruction of the AV valves and closure of the septal defects by a single or double patch technique.

Congenital Heart Disease
Patent Ductus Arteriosus (PDA)
results when the ductus arteriosus fails to close;this leads to blood flow from the aorta to the pulmonary artery
Risk factors
More common in girls by2:1
Association with maternal rubella infection
Common in premature infants

Patent Ductus Arteriosis
Murmur usually systolic, sometimes continuous, “machinery”
Poor feeding, respiratory distress, and frequent respiratory infections in infants with heart failure.
Physical exam and echocardiography.

Located just distal to the origin of the left subclavian artery
1 / 2500 to 1/ 5000 live births
Increased incidence with prematurity
12% of all CHD
Female to male ratio = 2:1
Associations: Asphyxia,Chromosomal anomalies, Birth at high altitudes, Congenital Rubella, Drugs, Genetic?

Normal postnatal closure
Functional closure
Usually occurs within the first 24 hours
Stimulated by:
High pO2 (more prominent effect with increased GA)
Interruption of Prostaglandins
Most important factor in ductal patency
Produced by the placenta and the ductal tissue
Metabolized by the lungs
Ductal tissue is much more sensitive to prostaglandins at earlier gestations
Complete “anatomic” closure (fibrosis)
Usually occurs in the first 2-3 weeks

Patent Ductus Arteriosus (PDA)
Presentation
If small – possibly no symptoms
If large –heart failure, a wide pulse pressure -bounding arterial pulses .
Continuous murmur
Hyperdynamic precodium

Management
Asymptomatic PDA’s require no treatment before age of 1 year, elective closure can usually be done by catheterization
Symptomatic PDA’s
Symptomatic treatment of CHF (diuresis, inotropic support, and vasodilators)
Avoid lowering PVR (avoid oxygen, alkalosis, NO)
Medical closure (Indomethacin IV, preferably before day 10 of life, Ibuprofen IV has similar effect)
Surgical closure in refractory cases

Cyanotic heart disease (right to left shunt)

CYANOTIC CONGENITAL HEART DISEASE
Common cyanotic heart disease ( 5 Ts & a P )
Tetralogy of fallot
Transposition of the great vesseles
Trancus arteriosis
Total anomalous pulmonary venous return
Tricuspid atresia
Pulmonic stenosis

Congenital Heart Lesions that DECREASE Pulmonary Arterial Blood Flow
Tetralogy of Fallot
Transposition of the Great Arteries
Tricuspid Atresia
Ebstein’s Anomaly

Total Anomalous Pulmonary Venous Connection
Pulmonary veins do not make a direct connection with the left atrium.
Blood reaches the left atrium only through an atrial septal defect or patent foramen ovale.
Pulmonary congestion, tachypnea, cardiac failure, and variable cyanosis.

Total Anomalous Pulmonary Venous Connection
Diagnosis by cardiac catherization or echocardiography.
Operative repair in all cases.

Total Anomalous Pulmonary Venous Return (TAPVR)

TAPVR- Infracardiac

Truncus Arteriosus
Single large vessel overrides the ventricular septum and distributes all the blood ejected from the heart.
Large VSD is present.

Truncus Arteriosus
Corrective operation with a valved conduit between right ventricle and pulmonary vessels.
Conduit will need to be changed as child grows but likelihood to develop pulmonary vascular disease is greatly reduced.

Tetralogy of Fallot (TOF)
RVOT obstruction
VSD
Overriding aorta
RV hypertrophy

Tetralogy of Fallot
Addition of an atrial septal defect falls in the category of Pentalogy of Fallot.
Hypoxic spells and squatting.
Cyanosis and clubbing.

Clinical Features
Asymptomatic infant with murmur is very common in the usual TOF patients
Murmur of RVOT obstruction can be confused with VSD in infancy
Cyanosis
Typically appears between 6wks and 6 months in the unrepaired infant
Nail beds and mucous membranes
May be present at rest or only with agitation/exercise
Persistent cyanosis and clubbing if not repaired

Tachycardia
Impaired RV
filling
?RVOT
obstruction
?Rt? Lt
shunt
? Agitation
Hypovolemia
? Age
? PVR
Hypercyanotic Spells ( TET spells)
? Cyanosis
Syncope
Fluid
Morphine
Oxygen
Phenylepherine
Knee-chest

Tetralogy of Fallot
Diagnosis
Chest X-ray: Boot-shaped heart, dark lung fields
ECG: right axis deviation, RVH
Echocardiogram (gold standard)
Pre-correction complications: cerebral thromboses, brain abscess, bacterial endocarditis , HF.
management: surgical repair including closure of VSD and widening of RVOTO

Transposition of Great Areries (TGA)
Aorta originating from the right ventricle, and pulmonary artery originating from the left ventricle
Accounts for 5-7% of all congenital heart disease

TGA
Survival is dependent on the presence of mixing between the pulmonary and systemic circulation
Atrial septal defect is essential for survival
50% of patients have a VSD
Usually presents in the first day of life with profound cyanosis
More common in boys

TGA
Exam :
cyanosis in an otherwise healthy looking baby
Loud S2 ( aorta is anterior )
CXR :
Egg on side
Narrow mediastinum

Transposition of the Great Arteries (TGA)
Management
• prostaglandin E1 (PGE1) infusion to keep ductus open until septotomy or surgery
• balloon atrial septostomy with catheter
• surgical correction: arterial switch procedure
infants without VSD must be repaired within 2 weeks to avoid weak LV muscle

Trcuspid Atresia
Complete absence of communication between the right atrium and right ventricle
About 3 % of congenital heart disease

Management
PBF
Decreased
Increased
PGE-1, and minimal supplemental O2 to maintain ductal patency
No O2
Afterload reduction
Diuretics

Tricuspid Atresia
Repair consists of shunt from right atrium to pulmonary artery or rudimentary right ventricle (Fontan procedure).

Ebstein’s Anomaly
Septal and posterior leaflets of the tricuspid valve are small and deformed, usually displaced toward the right ventricular apex.
Most patients have an associated ASD or patent foramen.
Cyanosis and arrhythmias in infancy are common.

Ebstein’s Anomaly
Right heart failure in half of patients.
Operative repair with tricuspid valve replacement.

non-shunt
Acyanotic heart lesions
Obstruction
Aortic stenosis AS
Supravalvar AS
Subaortic S
Coarctation
Mitral Stenosis
Pulmonary Stenosis
Regurgitation
Aortic regurgitation
Mitral regurgitation
Pulmonary regurgitation
Generally cause
pressure overload
Generally cause
Volume overload

Coarctation of the Aorta
Males twice as frequently as females.
98% of all coarctations at segment of aorta adjacent to ductus arteriosus.
Produced by both an external narrowing and an intraluminal membrane.
Blood flow to the lower body maintained through collateral vessels.

Coarctation of the Aorta
Absent or weak femoral pulses.
Systolic pressure higher in upper extremities than in lower extremities; diastolic pressures are similar.
Harsh systolic murmur heard in the back.

Coarctation of the Aorta
Older child if milder “juxtaductal” – 90% turner syndrome.
May hear murmur
May present with hypertension
lag of femoral pulse
Four- extremity BP –decrease (>5) in lower extremities
If pressure : right arm > left arm = involving left subclavcian artery

Coarctation of the Aorta
Diagnostic tests
Chest X-ray
Notching of inferior border of ribs
Poststenotic dilatation of ascending aorta
ECG: RVH early in infancy, LVH later in childhood

Coarctation of the Aorta
Management:
Neonats :
PGE1
balloon arterioplasty or surgical correction after stabilization
Older : treat hypertension then surgery
Complications: essential hypertension , aortic aneurysms
endocarditis

Pulmonary Stenosis

Pulmonary Stenosis
No symptoms in mild or moderately severe lesions.
Cyanosis and right-sided heart failure in patients with severe lesions.
High pitched systolic ejection murmur maximal in second left interspace.
Ejection click often present.

Aortic stenosis
100/60
100/5
100/60
160/15

Aortic Stenosis
Valvular Aortic Stenosis
Subaortic Stenosis
Supravalvular Aortic Stenosis
Asymmetric Septal Hypertrophy (Idiopathic Hypertrophic Subaortic Stenosis)

Valvular Aortic Stenosis
Most common type, usually asymptomatic in children.
May cause severe heart failure in infants.
Prominent left ventricular impulse, narrow pulse pressure.
Harsh systolic murmur and thrill along left sternal border, systolic ejection click.

Valvular Aortic Stenosis
Predominantly in males
Thickened, fibrotic, malformed aortic leaflets.
Fused commissures
Bicuspid aortic valve.

Congenital malformations syndrome with CHD
Down syndrome >>>endocardil cushion defect , VSD and ASD
Trisomy 18 >>> VSD , ASD ,PDA ,Coarctation
Trisomy 13 >>> VSD , ASD ,PDA ,Coarctation
Turner syndrome >>> bicuspid aortic valve and coarctation of aorta
Fragile x syndrome >> mitral valve prolapse and aortic root dilatation
CHARGE syndrome >> VSD ,ASD ,PDA ,TOF ,Cushion defect

Di George syndrome >>aortic arch anomalies
Alagille syndrome >> periphral pulmonary stenosis , supravalvular aortic stenosis
VATER>> VSD ,TOF ,ASD ,PDA
Asplenia syndrome >> complex CHD
Polysplenia syndrome >> ASD ,VSD ,PDA
Congenital rubella >>PDA
Maternal PKU>>ASD .VSD, PDA , coarctation

Polycystic kidney disease >> mitral prolapse
Diabetes >>hypertrophic cardiomyopathy ,VSD,TGA
Kartagner syndrome >> dextrocardia
Noonan syndrome >> pulmonary stenosis ,ASD, cardiomyopathy
Marfan syndrome >> aortic dissection , aortic regurgitation , mitral prolapse

CXR finding with CHD
Figure of 8 ( snowman ) >> total anomalous
Boot shape >>> TOF
Notching of ribs >>coarction of aorta
Flask shape >>> pericardial effusion
Egg on strip >> TGA

Causes of heart failure
In neonatal period >>CoA , hypoplastic left heart , sever aortic stenosis and truncus arteriosus
3-4 months>>> TOF
4 months – 1 year >> VSD , PDA and total anomalous
Adulthood >>ASD