Congenital heart disease

Congenital Heart Disease
Part I
ByBy
DevendraDevendra kumarkumar M.Sc. IM.Sc. I
YearYear

Acyanotic Congenital Heart Disease
Left-to-Right Shunt LesionsLeft-to-Right Shunt Lesions
• Atrial Septal Defect (ASD)Atrial Septal Defect (ASD)
• Ventricular Septal Defect (VSD)Ventricular Septal Defect (VSD)
• Atrioventricular Septal Defect (AV Canal)Atrioventricular Septal Defect (AV Canal)
• Patent Ductus Arteriosus (PDA)Patent Ductus Arteriosus (PDA)

Atrial Septal Defect
• ASDASD in which abnormal opening b/w thein which abnormal opening b/w the
right & left atrium which allowing theright & left atrium which allowing the
blood to flow from higher pressure LA toblood to flow from higher pressure LA to
lower pressure RA due to this it is alsolower pressure RA due to this it is also
known as left right shunt .known as left right shunt .

• There areThere are 3 major types:3 major types:
• Secundum ASDSecundum ASD – when opening near center of– when opening near center of
septum .septum .
•• Primum ASDPrimum ASD – when opening at lower end of– when opening at lower end of
septum it can be associated with MVA .septum it can be associated with MVA .
•• Sinus VenosusSinus Venosus ASDASD – when opening near junction– when opening near junction
of superior vena cava and right atrium .of superior vena cava and right atrium .

• Secundum ASDSecundum ASD • Sinus Venosus ASDSinus Venosus ASD

Clinical Signs & SymptomsClinical Signs & Symptoms
• Heart murmur .Heart murmur .
• Risk of dysarhythmias.Risk of dysarhythmias.
• FatigueFatigue
• Poor growth & weight gainPoor growth & weight gain
• Cardiac enlargementCardiac enlargement
• Dyspnea may occurDyspnea may occur
• SweatingSweating
Most are asymptomatic but may have easyMost are asymptomatic but may have easy
fatigability or mild growth failure.fatigability or mild growth failure.
•• Cyanosis does not occur unless pulmonary HTN isCyanosis does not occur unless pulmonary HTN is

• Question:Question:
What causes the systolic & diastolic murmurs of ASD?What causes the systolic & diastolic murmurs of ASD?
•• Answer:Answer:
Systolic murmur is caused by increased flow across theSystolic murmur is caused by increased flow across the
pulmonary valve,pulmonary valve, NOT THE ASDNOT THE ASD..
Diastolic murmur is caused by increased flow across theDiastolic murmur is caused by increased flow across the
tricupsid valve & this suggest high flow Qp:Qs is 2:1.tricupsid valve & this suggest high flow Qp:Qs is 2:1.

Treatment:Treatment:
• Surgical or catherization laboratory closureSurgical or catherization laboratory closure
is generally recommended for secundumis generally recommended for secundum
ASD w/ a Qp:Qs ratio >2:1.ASD w/ a Qp:Qs ratio >2:1.
•• Closure is performed electively betweenClosure is performed electively between
ages 2 & 5 yrs to avoid late complications.ages 2 & 5 yrs to avoid late complications.
•• Surgical correction is done earlier inSurgical correction is done earlier in
children w/ CHF or significant Pulm HTN.children w/ CHF or significant Pulm HTN.

TreatmentTreatment
•• Once pulmonary HTN w/ shunt reversalOnce pulmonary HTN w/ shunt reversal
occurs this is considered too late.occurs this is considered too late.
•• Mortality is < 1%.Mortality is < 1%.

Is endocarditis prophylaxis required forIs endocarditis prophylaxis required for
ASD?ASD?
NONO

Ventricular Septal Defect
• VSDVSD – is an abnormal opening in the– is an abnormal opening in the
ventricular septum, which allows freeventricular septum, which allows free
communication between the Rt & Ltcommunication between the Rt & Lt
ventricles. Accounts for 25% of CHD.ventricles. Accounts for 25% of CHD.

• 4 Types4 Types
• Perimembranous (or membranous)Perimembranous (or membranous) – Most– Most
common.common.
• Infundibular (subpulmonary or supracristal VSD)Infundibular (subpulmonary or supracristal VSD)
– involves the RV outflow tract.– involves the RV outflow tract.
•• Muscular VSDMuscular VSD – can be single or multiple.– can be single or multiple.
•• AVSDAVSD – inlet VSD, almost always involves AV– inlet VSD, almost always involves AV
valvular abnormalities.valvular abnormalities.

HemodynamicsHemodynamics
• The left to right shunt occurs secondary to PVRThe left to right shunt occurs secondary to PVR
being < SVR, not the higher pressure in the LV.being < SVR, not the higher pressure in the LV.
• This leads to elevated RV & pulmonary pressuresThis leads to elevated RV & pulmonary pressures
& volume hypertrophy of the LA & LV.& volume hypertrophy of the LA & LV.

•• Small - moderate VSD, 3-6mm, are usuallySmall - moderate VSD, 3-6mm, are usually
asymptomatic and 50% will close spontaneouslyasymptomatic and 50% will close spontaneously
by age 2yrs.by age 2yrs.
•• Moderate – large VSD, almost always haveModerate – large VSD, almost always have
symptoms and will require surgical repair.symptoms and will require surgical repair.

•• II-III/VI harsh holosystolic murmur heard along the LSB,II-III/VI harsh holosystolic murmur heard along the LSB,
more prominent with small VSD, maybe absent with amore prominent with small VSD, maybe absent with a
very Large VSD.very Large VSD.
•• Prominent P2, Diastolic murmur.Prominent P2, Diastolic murmur.
•• CHF, FTT, Respiratory infections, exercise intoleranceCHF, FTT, Respiratory infections, exercise intolerance
hyperactive precordium. Symptoms develop between 1 – 6hyperactive precordium. Symptoms develop between 1 – 6
monthsmonths

TreatmentTreatment
•• Small VSD - no surgical intervention, noSmall VSD - no surgical intervention, no
physical restrictions, just reassurance andphysical restrictions, just reassurance and
periodic follow-up and endocarditis prophylaxis.periodic follow-up and endocarditis prophylaxis.
•• Symptomatic VSD - Medical treatmentSymptomatic VSD - Medical treatment
initially with afterload reducers & diuretics.initially with afterload reducers & diuretics.

TreatmentTreatment
• Indications for Surgical Closure:Indications for Surgical Closure:
• Large VSD w/ medically uncontrolled symptomatology &Large VSD w/ medically uncontrolled symptomatology &
continued FTT.continued FTT.
• Ages 6-12 mo w/ large VSD & Pulm. HTNAges 6-12 mo w/ large VSD & Pulm. HTN
• Age > 24 mo w/ Qp:Qs ratio > 2:1.Age > 24 mo w/ Qp:Qs ratio > 2:1.
• Supracristal VSD of any size, secondary to risk ofSupracristal VSD of any size, secondary to risk of
developing AV insufficiencydeveloping AV insufficiency..

Atrioventricular Septal Defect
• AVSDAVSD results from incomplete fusion theresults from incomplete fusion the
the endocardial cushions, which help tothe endocardial cushions, which help to
form the lower portion of the atrial septum,form the lower portion of the atrial septum,
the membranous portion of the ventricularthe membranous portion of the ventricular
septum and the septal leaflets of theseptum and the septal leaflets of the
triscupid and mitral valves.triscupid and mitral valves.
• They account for 4% OF ALL CHD.They account for 4% OF ALL CHD.

What genetic disease is AVSD moreWhat genetic disease is AVSD more
commonly seen in?commonly seen in?
Down’s Syndrome (Trisomy 21), Seen inDown’s Syndrome (Trisomy 21), Seen in
20-25% of cases.20-25% of cases.

Complete FormComplete Form
• Low primum ASDLow primum ASD
continuous with a posteriorcontinuous with a posterior
VSD.VSD.
• Cleft in both septal leafletsCleft in both septal leaflets
of TV/MV.of TV/MV.
• Results in a large L to RResults in a large L to R
shunt at both levels.shunt at both levels.
• TR/MR, Pulm HTN w/TR/MR, Pulm HTN w/
increase in PVR.increase in PVR.
Incomplete FormIncomplete Form
• Any one of theAny one of the
components may becomponents may be
present.present.
• Most common is primumMost common is primum
ASD, cleft in the MV &ASD, cleft in the MV &
small VSD.small VSD.
• Hemodynamics areHemodynamics are
dependent on the lesions.dependent on the lesions.

• Complete AVSDComplete AVSD

• Incomplete AVSD maybe indistinguishable fromIncomplete AVSD maybe indistinguishable from
ASD - usually asymptomatic.ASD - usually asymptomatic.
• Congestive heart failure in infancy.Congestive heart failure in infancy.
• Recurrent pulmonary infections.Recurrent pulmonary infections.
• Failure to thrive.Failure to thrive.
• Exercise intolerance, easy fatigability.Exercise intolerance, easy fatigability.
• Late cyanosis from pulmonary vascular disease w/Late cyanosis from pulmonary vascular disease w/
R to L shunt.R to L shunt.

• Hyperactive precordiumHyperactive precordium
• Normal or accentuated 1Normal or accentuated 1stst
hrt soundhrt sound
• Wide, fixed splitting of S2Wide, fixed splitting of S2
• Pulmonary systolic ejection murmur w/thrillPulmonary systolic ejection murmur w/thrill
• Holosystolic murmur @ apex w/radiation to axillaHolosystolic murmur @ apex w/radiation to axilla
• Mid-diastolic rumbling murmur @ LSBMid-diastolic rumbling murmur @ LSB
• Marked cardiac enlargement on CX-RayMarked cardiac enlargement on CX-Ray

TreatmentTreatment
• Surgery is always required.Surgery is always required.
• Treat congestive symptoms.Treat congestive symptoms.
• Pulmonary banding maybe required in prematurePulmonary banding maybe required in premature
infants or infants < 5 kg.infants or infants < 5 kg.
• Correction is done during infancy to avoidCorrection is done during infancy to avoid
irreversible pulmonary vascular disease.irreversible pulmonary vascular disease.
• Mortality low w/incomplete 1-2% & as high asMortality low w/incomplete 1-2% & as high as
5% with complete AVSD.5% with complete AVSD.

Patent Ductus Arteriosus
• PDAPDA – Persistence of the normal fetal vessel that– Persistence of the normal fetal vessel that
joins the PA to the Aorta.joins the PA to the Aorta.
• Normally closes in the 1Normally closes in the 1stst
wk of life.wk of life.
• Accounts for 10% of all CHD, seen in 10% ofAccounts for 10% of all CHD, seen in 10% of
other congenital hrt lesions and can often play aother congenital hrt lesions and can often play a
critical role in some lesions.critical role in some lesions.
• Female : Male ratio of 2:1Female : Male ratio of 2:1
• Often associated w/ coarctation & VSD.Often associated w/ coarctation & VSD.

What TORCH infection is PDA associatedWhat TORCH infection is PDA associated
with?with?
•• AnswerAnswer::
RubellaRubella

• As a result of higher aortic pressure, blood shuntsAs a result of higher aortic pressure, blood shunts
L to R through the ductus from Aorta to PA.L to R through the ductus from Aorta to PA.
• Extent of the shunt depends on size of the ductusExtent of the shunt depends on size of the ductus
& PVR:SVR.& PVR:SVR.
• Small PDA, pressures in PA, RV, RA are normal.Small PDA, pressures in PA, RV, RA are normal.

• Large PDA, PA pressures are equal toLarge PDA, PA pressures are equal to
systemic pressures. In extreme cases 70%systemic pressures. In extreme cases 70%
of CO is shunted through the ductus toof CO is shunted through the ductus to
pulmonary circulation.pulmonary circulation.
• Leads to increased pulmonary vascularLeads to increased pulmonary vascular
disease.disease.

• Small PDA’s are usually asymptomaticSmall PDA’s are usually asymptomatic
• Large PDA’s can result in symptoms of CHF,Large PDA’s can result in symptoms of CHF,
growth restriction, FTT.growth restriction, FTT.
• Bounding arterial pulsesBounding arterial pulses
• Widened pulse pressureWidened pulse pressure
• Enlarged heart, prominent apical impulseEnlarged heart, prominent apical impulse
• Classic continuous machinary systolic murmurClassic continuous machinary systolic murmur
• Mid-diastolic murmur at the apexMid-diastolic murmur at the apex

TreatmentTreatment
• Indomethacin, inhibitor of prostaglandinIndomethacin, inhibitor of prostaglandin
synthesis can be used in premature infants.synthesis can be used in premature infants.
• PDA requires surgical or catheter closure.PDA requires surgical or catheter closure.
• Closure is required treatment heart failure &Closure is required treatment heart failure &
to prevent pulmonary vascular disease.to prevent pulmonary vascular disease.
• Usually done by ligation & division or intraUsually done by ligation & division or intra
vascular coil.vascular coil.
• Mortality is < 1%Mortality is < 1%

Obstructive Heart Lesions
• Pulmonary StenosisPulmonary Stenosis
• Aortic StenosisAortic Stenosis
• Coarctation of the AortaCoarctation of the Aorta

Pulmonary Stenosis
• Pulmonary StenosisPulmonary Stenosis is obstruction in the regionis obstruction in the region
of either the pulmonary valve or the subpulmonaryof either the pulmonary valve or the subpulmonary
ventricular outflow tract.ventricular outflow tract.
• Accounts for 7-10% of all CHD.Accounts for 7-10% of all CHD.
• Most cases are isolated lesionsMost cases are isolated lesions
• Maybe biscuspid or fusion of 2 or more leaflets.Maybe biscuspid or fusion of 2 or more leaflets.
• Can present w/or w/o an intact ventricular septum.Can present w/or w/o an intact ventricular septum.

Pulmonary Stenosis
What syndrome is PS associated with?What syndrome is PS associated with?
• Answer:Answer:
Noonan’s Syndrome, secondary to valveNoonan’s Syndrome, secondary to valve
dysplasia.dysplasia.

Pulmonary Stenosis
• RV pressure hypertrophyRV pressure hypertrophy ⇒⇒ RV failure.RV failure.
• RV pressures maybe > systemic pressure.RV pressures maybe > systemic pressure.
• Post-stenotic dilation of main PA.Post-stenotic dilation of main PA.
• W/intact septum & severe stenosisW/intact septum & severe stenosis ⇒⇒ R-LR-L
shunt through PFOshunt through PFO ⇒⇒ cyanosis.cyanosis.
• Cyanosis is indicative of Critical PS.Cyanosis is indicative of Critical PS.

Pulmonary Stenosis
• Depends on the severity of obstruction.Depends on the severity of obstruction.
• Asymptomatic w/ mild PS < 30mmHg.Asymptomatic w/ mild PS < 30mmHg.
• Mod-severe: 30-60mmHg, > 60mmHgMod-severe: 30-60mmHg, > 60mmHg
• Prominent jugular a-wave, RV liftProminent jugular a-wave, RV lift
• Split 2Split 2ndnd
hrt sound w/ a delayhrt sound w/ a delay
• Ejection click, followed by systolic murmur.Ejection click, followed by systolic murmur.
• Heart failure & cyanosis seen in severe cases.Heart failure & cyanosis seen in severe cases.

Pulmonary Stenosis
TreatmentTreatment
• Mild PS no intervention required, close follow-up.Mild PS no intervention required, close follow-up.
• Mod-severe – require relieve of stenosis.Mod-severe – require relieve of stenosis.
• Balloon valvuloplasty, treatment of choice.Balloon valvuloplasty, treatment of choice.
• Surgical valvotomy is also a consideration.Surgical valvotomy is also a consideration.

Aortic Stenosis
• Aortic StenosisAortic Stenosis is an obstruction to the outflowis an obstruction to the outflow
from the left ventricle at or near the aortic valvefrom the left ventricle at or near the aortic valve
that causes a systolic pressure gradient of morethat causes a systolic pressure gradient of more
than 10mmHg. Accounts for 7% of CHD.than 10mmHg. Accounts for 7% of CHD.
• 3 Types3 Types
• ValvularValvular – Most common.– Most common.
• Subvalvular(subaortic)Subvalvular(subaortic) – involves the left outflow– involves the left outflow
tract.tract.
• SupravalvularSupravalvular – involves the ascending aorta is– involves the ascending aorta is
the least common.the least common.

Aortic Stenosis
Which syndrome is supravalvular stenosisWhich syndrome is supravalvular stenosis
found in?found in?
• Answer:Answer:
Williams SyndromeWilliams Syndrome

Aortic Stenosis
• Pressure hypertrophy of the LV and LAPressure hypertrophy of the LV and LA
with obstruction to flow from the LV.with obstruction to flow from the LV.
• Mild ASMild AS 0-25mmHG0-25mmHG
• Moderate ASModerate AS 25-50mmHg25-50mmHg
• Severe ASSevere AS 50-75mmHg50-75mmHg
• Critical ASCritical AS > 75mmHg> 75mmHg

Aortic Stenosis
• Mild AS may present with exercise intolerance,Mild AS may present with exercise intolerance,
easy fatigabiltity, but usually asymptomatic.easy fatigabiltity, but usually asymptomatic.
• Moderate AS – Chest pain, dypsnea on exertion,Moderate AS – Chest pain, dypsnea on exertion,
dizziness & syncope.dizziness & syncope.
• Severe AS – Weak pulses, left sided heart failure,Severe AS – Weak pulses, left sided heart failure,
Sudden DeathSudden Death..

Aortic Stenosis
• LV thrust at the Apex.LV thrust at the Apex.
• Systolic thrill @ rt base/suprasternal notch.Systolic thrill @ rt base/suprasternal notch.
• Ejection click, III-IV/VI systolic murmur @Ejection click, III-IV/VI systolic murmur @
RSB/LSB w/ radiation to the carotids.RSB/LSB w/ radiation to the carotids.

Aortic Stenosis
TreatmentTreatment
• Because surgery does not offer a cure it isBecause surgery does not offer a cure it is
reserved for patients with symptoms and a restingreserved for patients with symptoms and a resting
gradient of 60-80mmHg.gradient of 60-80mmHg.
• ForFor subaortic stenosissubaortic stenosis it is reserved for gradientsit is reserved for gradients
of 40-50mmHg because of it’s rapidly progressiveof 40-50mmHg because of it’s rapidly progressive
nature.nature.
• Balloon valvuloplasty is the standard of treatment.Balloon valvuloplasty is the standard of treatment.

Aortic Stenosis
TreatmentTreatment
• Aortic insufficiency & re-stenosis is likely afterAortic insufficiency & re-stenosis is likely after
surgery and may require valve replacement.surgery and may require valve replacement.
• Activity should not be restricted in Mild AS.Activity should not be restricted in Mild AS.
• Mod-severe AS, no competitive sports.Mod-severe AS, no competitive sports.

Coarctation of the Aorta
• CoarctationCoarctation- is narrowing of the aorta at varying- is narrowing of the aorta at varying
points anywhere from the transverse arch to thepoints anywhere from the transverse arch to the
iliac bifurcation.iliac bifurcation.
• 98% of coarctations are juxtaductal98% of coarctations are juxtaductal
• Male: Female ratio 3:1.Male: Female ratio 3:1.
• Accounts for 7 % of all CHD.Accounts for 7 % of all CHD.

What other heart anomaly is coarctationWhat other heart anomaly is coarctation
associated with?associated with?
• Answer:Answer:
Bicuspid aortic valve, seen in > 70% ofBicuspid aortic valve, seen in > 70% of
cases.cases.

What genetic syndrome is coarctation seenWhat genetic syndrome is coarctation seen
in?in?
• Answer:Answer:
Turner’s SyndromeTurner’s Syndrome

• Obstruction of left ventricular outflowObstruction of left ventricular outflow ⇒⇒
pressure hypertrophy of the LV.pressure hypertrophy of the LV.

• Classic signs of coarctation are diminution orClassic signs of coarctation are diminution or
absence of femoral pulses.absence of femoral pulses.
• Higher BP in the upper extremities as compared toHigher BP in the upper extremities as compared to
the lower extremities.the lower extremities.
• 90% have systolic hypertension of the upper90% have systolic hypertension of the upper
extremities.extremities.
• Pulse discrepancy between rt & lt arms.Pulse discrepancy between rt & lt arms.

• With severe coarc. LE hypoperfusion, acidosis,With severe coarc. LE hypoperfusion, acidosis,
HF and shock.HF and shock.
• Differential cyanosis if ductus is still openDifferential cyanosis if ductus is still open
• II/VI systolic ejection murmur @ LSB.II/VI systolic ejection murmur @ LSB.
• Cardiomegaly, rib notching on X-ray.Cardiomegaly, rib notching on X-ray.

TreatmentTreatment
• With severe coarctation maintaining the ductusWith severe coarctation maintaining the ductus
with prostaglandin E is essential.with prostaglandin E is essential.
• Surgical intervention, to prevent LV dysfunction.Surgical intervention, to prevent LV dysfunction.
• Angioplasty is used by some centers.Angioplasty is used by some centers.
• Re-coarctation can occur, balloon angioplasty isRe-coarctation can occur, balloon angioplasty is
the procedure of choice.the procedure of choice.

Questions
Examination of a 3-hr old infant revealsExamination of a 3-hr old infant reveals
dysmorphic features and cyanosis. Both thedysmorphic features and cyanosis. Both the
occiput and facial profile are flat, and theocciput and facial profile are flat, and the
fontanelle is abnormally enlarged. The spacefontanelle is abnormally enlarged. The space
between the great and second toe is wide, andbetween the great and second toe is wide, and
there is a palmar crease extending across thethere is a palmar crease extending across the
left palm. Room air oximetry reveals a saturationleft palm. Room air oximetry reveals a saturation
70%.70%.

Questions
Of the following, the MOST likely lesion toOf the following, the MOST likely lesion to
be found on echocardiography would bebe found on echocardiography would be
A.A. Atrioventricular septal defectAtrioventricular septal defect
B.B. Coarctation of the aortaCoarctation of the aorta
C.C. Hypoplastic left heartHypoplastic left heart
D.D. Total anomalous pulmonary venous returnTotal anomalous pulmonary venous return
E.E. Truncus arteriosusTruncus arteriosus

Questions
After a few days of poor feeding andAfter a few days of poor feeding and
tachypnea, a 3 week old presents withtachypnea, a 3 week old presents with
hypotension, poor central and peripheralhypotension, poor central and peripheral
pulses, and severe metabolic acidosis. Apulses, and severe metabolic acidosis. A
gallop is audible, and the heart appearsgallop is audible, and the heart appears
enlarged on chest radiography.enlarged on chest radiography.
HepatomegalyHepatomegaly
is marked.is marked.

Questions
Of the following, the BEST intervention toOf the following, the BEST intervention to
produce a sustained improvement isproduce a sustained improvement is
A.A. 100% Oxygen administration100% Oxygen administration
B.B. Dopamine infusionDopamine infusion
C.C. Gamma globulin infusionGamma globulin infusion
D.D. Phenylephrine infusionPhenylephrine infusion
E.E. Prostaglandin E infusionProstaglandin E infusion

Questions
A term infant is born with a large ventricular septalA term infant is born with a large ventricular septal
defect. At what age is the infant most likely to firstdefect. At what age is the infant most likely to first
demonstrate clinical findings of CHFdemonstrate clinical findings of CHF
A.A. 2 days2 days
B.B. 2 weeks2 weeks
C.C. 2 months2 months
D.D. 6 months6 months
E.E. 12 months12 months

Congenital heart disease

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