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Congenital Heart Disease
Mohamed Waheed Elsharief.
MBBS, MSc. MD
Objectives
By the end of this lecture you should be
able to
Define congenital heart disease
Differentiate between cyanotic and
Acyanotic CHD.
Illustrate how to investigate a child when
suspecting CHD
Outline the management of common CHD
Definition and etiology
Any deviation in the sequence of
embryogenesis structural, functional or
positional defect presents at birth which
manifest any time after birth.
Normal embryogenesis depend genes,
enivroment infections (diabetes, drugs,)
Congenital Heart Disease (CHD)
Occurs in 8: 1000 of all live births
Simple way to classify is:
– L→R shunts (Acyanotic)
– Cyanotic CHD (R→L shunts)
– Obstructive lesions
Acyanotic Congenital Heart
Disease
Left-to-Right Shunt Lesions
Atrial Septal Defect (ASD)
Ventricular Septal Defect (VSD)
Atrioventricular Septal Defect (AV Canal)
Patent Ductus Arteriosus (PDA)
Atrial Septal Defect
ASD is an opening in the atrial septum
permitting free communication of blood
between the atria. Seen in 10% of all CHD.
Atrial Septal Defect
There are 3 major types:
Secundum ASD – at the Fossa Ovalis, most common.
• Primum ASD – lower in position & is a form of ASVD, MV cleft.
• Sinus Venosus ASD – high in the atrial septum, associated w/partial anomalous venous return & the least common.
Atrial Septal Defect
Clinical Signs & Symptoms
Rarely presents with signs of CHF or other cardiovascular symptoms.
• Most are asymptomatic but may have easy fatigability or mild growth failure.
• Cyanosis does not occur unless pulmonary HTN is present.
Atrial Septal Defect
Clinical Signs & Symptoms
• Hyperactive precordium, RV heave, fixed widely
split S2.
• II-III/VI systolic ejection murmur @ LSB.
• Mid-diastolic murmur heard over LLSB.
Atrial Septal Defect
Treatment:
Surgical or catherization laboratory closure is generally recommended for secundum ASD
• Closure is performed electively between ages 2 & 5 yrs to avoid late complications.
Surgical correction is done earlier in children w/ CHF or significant Pulm HTN.
Surgery is not indicated if there Pul HTN occur and shunt is reveresed
Ventricular Septal Defect
VSD – is an abnormal opening in the
ventricular septum, which allows free
communication between the Rt & Lt
ventricles. Accounts for 30% of CHD.
Ventricular Septal Defect
4 Types
Perimembranous (or membranous) – Most common.
Infundibular (subpulmonary or supracristal VSD) – involves the RV outflow tract.
• Muscular VSD – can be single or multiple.
• AVSD – inlet VSD, almost always involves AV valvular abnormalities.
Ventricular Septal Defect
Hemodynamics
The left to right shunt occurs secondary to PVR
being < SVR, not the higher pressure in the LV.
This leads to elevated RV & pulmonary pressures
& volume hypertrophy of the LA & LV.
Ventricular Septal Defect
Clinical Signs & Symptoms
• Small - moderate VSD, >5mm, are usually
asymptomatic and 50% will close spontaneously
by age 2yrs.
• Moderate – 10-5 large VSD, almost always have
symptoms and will require surgical repair.
Ventricular Septal Defect
Clinical Signs & Symptoms
• II-III/VI harsh holosystolic murmur heard along the LSB, more prominent with small VSD, maybe absent with a
very Large VSD.
• Prominent P2, Diastolic murmur.
• CHF, FTT, Respiratory infections, exercise intolerance
hyperactive precordium. Symptoms develop between 1 – 6
months
Ventricular Septal Defect
Treatment
• Small VSD - no surgical intervention, no
physical restrictions, just reassurance and
periodic follow-up and endocarditis prophylaxis.
• Symptomatic VSD - Medical treatment
initially with afterload reducers & diuretics.
Ventricular Septal Defect Treatment
Indications for Surgical Closure:
Large VSD w/ medically uncontrolled symptomatology & continued FTT.
Ages 6-12 mo w/ large VSD & Pulm. HTN
Age > 24 mo w/ Qp:Qs ratio > 2:1.
Supracristal VSD of any size, secondary to risk of
developing AV insufficiency.
Atrioventricular Septal Defect
AVSD results from incomplete fusion the the endocardial cushions, which help to form the lower portion of the atrial septum, the membranous portion of the ventricular septum and the septal leaflets of the triscupid and mitral valves.
They account for 4% OF ALL CHD.
Atrioventricular Septal Defect
Question:
What genetic disease is AVSD more
commonly seen in?
• Answer:
Down’s Syndrome (Trisomy 21), Seen in
20-25% of cases.
Atrioventricular Septal Defect
Complete AVSD
Atrioventricular Septal Defect
Clinical Signs & Symptoms
Incomplete AVSD maybe indistinguishable from
ASD - usually asymptomatic.
Congestive heart failure in infancy.
Recurrent pulmonary infections.
Failure to thrive.
Exercise intolerance, easy fatigability.
Late cyanosis from pulmonary vascular disease w/
R to L shunt.
Atrioventricular Septal Defect
Clinical Signs & Symptoms
Hyperactive precordium
Normal or accentuated 1st hrt sound
Wide, fixed splitting of S2
Pulmonary systolic ejection murmur w/thrill
Holosystolic murmur @ apex w/radiation to axilla
Mid-diastolic rumbling murmur @ LSB
Marked cardiac enlargement on CX-Ray
Atrioventricular Septal Defect Treatment
Surgery is always required.
Treat congestive symptoms.
Pulmonary banding maybe required in premature infants or infants < 5 kg.
Correction is done during infancy to avoid irreversible pulmonary vascular disease.
Mortality low w/incomplete 1-2% & as high as 5% with complete AVSD.
Patent Ductus Arteriosus
PDA – Persistence of the normal fetal vessel that joins the PA to the Aorta.
Normally closes in the 1st wk of life.
Accounts for 10% of all CHD, seen in 10% of
Female : Male ratio of 2:1
Often associated w/ coarctation & VSD.
PDA is associated with congenital Rubella syndrome
Patent Ductus Arteriosus
Hemodynamics
As a result of higher aortic pressure, blood shunts
L to R through the ductus from Aorta to PA.
Extent of the shunt depends on size of the ductus
& PVR:SVR.
Small PDA, pressures in PA, RV, RA are normal.
Patent Ductus Arteriosus
Hemodynamics
Large PDA, PA pressures are equal to systemic pressures. In extreme cases 70% of CO is shunted through the ductus to pulmonary circulation.
Leads to increased pulmonary vascular disease.
Patent Ductus Arteriosus
Clinical Signs & Symptoms
Small PDA’s are usually asymptomatic
Large PDA’s can result in symptoms of CHF, growth restriction, FTT.
Bounding arterial pulses
Widened pulse pressure
Enlarged heart, prominent apical impulse
Classic continuous machinary systolic murmur
Mid-diastolic murmur at the apex
Patent Ductus Arteriosus
Treatment
Indomethacin, inhibitor of prostaglandin synthesis can be used in premature infants.
PDA requires surgical or catheter closure.
Closure is required treatment heart failure & to prevent pulmonary vascular disease.
Usually done by ligation & division or intra vascular coil.
Mortality is < 1%
Obstructive Heart Lesions
Pulmonary Stenosis
Aortic Stenosis
Coarctation of the Aorta
Pulmonary Stenosis
Pulmonary Stenosis is obstruction in the region of either the pulmonary valve or the subpulmonary ventricular outflow tract.
Accounts for 7-10% of all CHD.
Most cases are isolated lesions
Maybe biscuspid or fusion of 2 or more leaflets.
Can present w/or w/o an intact ventricular septum.
Associated with Noonan’s syndrome
Pulmonary Stenosis
Hemodynamics
RV pressure hypertrophy RV failure.
RV pressures maybe > systemic pressure.
Post-stenotic dilation of main PA.
W/intact septum & severe stenosis R-L
shunt through PFO cyanosis.
Cyanosis is indicative of Critical PS.
Pulmonary Stenosis
Clinical Signs & Symptoms
Depends on the severity of obstruction.
Asymptomatic w/ mild PS < 30mmHg.
Mod-severe: 30-60mmHg, > 60mmHg
Prominent jugular a-wave, RV lift
Split 2nd hrt sound w/ a delay
Ejection click, followed by systolic murmur.
Heart failure & cyanosis seen in severe cases.
Pulmonary Stenosis
Treatment
Mild PS no intervention required, close follow-up.
Mod-severe – require relieve of stenosis.
Balloon valvuloplasty, treatment of choice.
Surgical valvotomy is also a consideration.
Aortic Stenosis
Aortic Stenosis is an obstruction to the outflow from the left ventricle at or near the aortic valve that causes a systolic pressure gradient of more than 10mmHg. Accounts for 7% of CHD.
3 Types
Valvular – Most common.
Subvalvular(subaortic) – involves the left outflow tract.
Supravalvular – involves the ascending aorta is the least common.
Aortic Stenosis
Question:
Which syndrome is supravalvular stenosis
found in?
Answer:
Williams Syndrome
Aortic Stenosis
Clinical Signs & Symptoms
Mild AS may present with exercise intolerance, easy fatigabiltity, but usually asymptomatic.
Moderate AS – Chest pain, dypsnea on exertion, dizziness & syncope.
Severe AS – Weak pulses, left sided heart failure, Sudden Death.
Aortic Stenosis
Clinical Signs & Symptoms
LV thrust at the Apex.
Systolic thrill @ rt base/suprasternal notch.
Ejection click, III-IV/VI systolic murmur @
RSB/LSB w/ radiation to the carotids.
Coarctation of the Aorta
Coarctation- is narrowing of the aorta at varying points anywhere from the transverse arch to the iliac bifurcation.
98% of coarctations are juxtaductal
Male: Female ratio 3:1.
Accounts for 7 % of all CHD.
Coarctation of the Aorta
Question:
What other heart anomaly is coarctation
associated with?
Answer:
Bicuspid aortic valve, seen in > 70% of
cases.
Coarctation of the Aorta
Question:
What genetic syndrome is coarctation seen
in?
Answer:
Turner’s Syndrome
Coarctation of the Aorta
Hemodynamics
Obstruction of left ventricular outflow
pressure hypertrophy of the LV.
Coarctation of the Aorta Clinical Signs & Symptoms
Classic signs of coarctation are diminution or absence of femoral pulses.
Higher BP in the upper extremities as compared to the lower extremities.
90% have systolic hypertension of the upper extremities.
Pulse discrepancy between rt & lt arms.
Coarctation of the Aorta
Clinical Signs & Symptoms
With severe coarc. LE hypoperfusion, acidosis, HF and shock.
Differential cyanosis if ductus is still open
II/VI systolic ejection murmur @ LSB.
Cardiomegaly, rib notching on X-ray.
Coarctation of the Aorta
Treatment
With severe coarctation maintaining the ductus with prostaglandin E is essential.
Surgical intervention, to prevent LV dysfunction.
Angioplasty is used by some centers.
Re-coarctation can occur, balloon angioplasty is the procedure of choice.
Cyanotic Heart Diseases
Eisenmenger’s
Syndrome
Tetralogy of Fallot
Anatomic Defects – Ventricular septal
defect
– Overriding Aorta
– Pulmonary artery
stenosis
– Right ventricular
hypertrophy
Picture: www.lpch.org
Tetralogy of Fallot
Pathophysiology: Increased resistance by the
pulmonary stenosis causes deoxygenated systemic venous return to be diverted from RV, through VSD to the overriding aorta and systemic circulation systemic hypoxemia and cyanosis
Picture: www.lpch.org
Tetralogy of Fallot
Symptoms:
– Dyspnea on exertion or when crying
– Tet spells: irritability, cyanosis, hyperventilation
and sometimes syncope or convulsions due to
cerebral hypoxemia.
– Patients learn to alleviate symptoms by squatting
which increases systemic resistance and decreases
the right-to-left shunt and directs more blood to the
pulmonary circulation.
Tetralogy of Fallot
Physical exam:
– Clubbing of the fingers and toes
– Systolic ejection murmur heard at the upper left sternal border created by turbulent blood flow through stenotic RV outflow tract
Lab Studies:
– High PCV
– CXR: prominent RV
– EKG: RVH, right axis deviation
– ECHO: displays and quantifies extent of RV outflow tract obstruction
What is the difference between these two films?-
both are infants with congenital heart disease.
Tetralogy of Fallot Treatment:
– Antibiotic with procedures
– Surgical closure of the VSD and enlargement of the pulmonary outflow tract
-Patient given beta blockers for prophylaxis against Tet spells
- Treat spells by
- Position knee chest
- Oxygen
- Fluids
- Morphine
- B blockers
- Complications Brain abscess thrombosis, iron deficiency
- Q can they present with heart failure?
Transposed
Great Arteries
Blue. Presents with
cyanosis when the duct
closes.
24 Hours to 2 Weeks
Cyanotic “Ductal-Dependent”
Lesions
CXR helps in diagnosis - oligaemic lungfields
PS, pulmonary atresia etc
- plethoric lungfields
TGA
- congestion
TAPVD
- massive cardiomegaly
Ebstein’s
What is the difference between these two films?-
both are infants with congenital heart disease.
Cyanotic infant- a lung
problem or a heart problem?
Investigations- suggests heart if:
- CXR- clear lung fields and
- ECG- normal and
- Hyperoxia test normal ( breathing 100%
oxygen, if pO2 >150mmHg very unlikely to be
cyanotic heart disease)
- (Echocardiogram is the definitive test)
24 Hours to 2 Weeks
Heart failure “Ductal-Dependent”
Lesions
Heart failure is due to left heart
obstruction NOT L-R shunts at this
age! eg.
– Coarctation
– Critical Aortic stenosis
– Hypoplastic left heart
– Mitral stenosis (rare)
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