Congenital Heart Disease

Congenital Heart DiseasePart I

ByBy

Katrice L. Herndon, M.D.Katrice L. Herndon, M.D.

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 is an opening in the atrial septum is an opening in the atrial septum permitting free communication of blood permitting free communication of blood between the atria. Seen in 10% of all CHD.between the atria. Seen in 10% of all CHD.

Atrial Septal Defect• There are There are 3 major types:3 major types:

• Secundum ASDSecundum ASD – at the Fossa Ovalis, most common. – at the Fossa Ovalis, most common.

•• Primum ASDPrimum ASD – lower in position & is a form of ASVD, – lower in position & is a form of ASVD, MV cleft.MV cleft.

•• Sinus VenosusSinus Venosus ASDASD – high in the atrial septum, – high in the atrial septum, associated w/partial anomalous venous return & the associated w/partial anomalous venous return & the least common.least common.


• Secundum ASDSecundum ASD • Sinus Venosus ASDSinus Venosus ASD


Clinical Signs & SymptomsClinical Signs & Symptoms• Rarely presents with signs of CHF or other Rarely presents with signs of CHF or other

cardiovascular symptoms.cardiovascular symptoms.

•• Most are asymptomatic but may have easy fatigability or Most are asymptomatic but may have easy fatigability or mild growth failure.mild growth failure.

•• Cyanosis does not occur unless pulmonary HTN is Cyanosis does not occur unless pulmonary HTN is present.present.


Clinical Signs & SymptomsClinical Signs & Symptoms

•• Hyperactive precordium, RV heave, fixed widely Hyperactive precordium, RV heave, fixed widely split S2.split S2.

•• II-III/VI systolic ejection murmur @ LSB.II-III/VI systolic ejection murmur @ LSB.

•• Mid-diastolic murmur heard over LLSB.Mid-diastolic murmur heard over LLSB.


• 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 the Systolic 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 the Diastolic 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.

Atrial Septal DefectTreatment:Treatment:

• Surgical or catherization laboratory closure is Surgical or catherization laboratory closure is generally recommended for secundum ASD generally recommended for secundum ASD w/ a Qp:Qs ratio >2:1.w/ a Qp:Qs ratio >2:1.

•• Closure is performed electively between ages Closure is performed electively between ages 2 & 5 yrs to avoid late complications.2 & 5 yrs to avoid late complications.

•• Surgical correction is done earlier in children Surgical correction is done earlier in children w/ CHF or significant Pulm HTN.w/ CHF or significant Pulm HTN.


TreatmentTreatment

•• Once pulmonary HTN w/ shunt reversal Once pulmonary HTN w/ shunt reversal occurs this is considered too late.occurs this is considered too late.

•• Mortality is < 1%.Mortality is < 1%.


• Question:Question:

Is endocarditis prophylaxis required for Is endocarditis prophylaxis required for

ASD?ASD?

•• Answer:Answer:

NONO

Ventricular Septal Defect

• VSD VSD – is an abnormal opening in the – is an abnormal opening in the ventricular septum, which allows free ventricular septum, which allows free communication between the Rt & Lt communication between the Rt & Lt ventricles. Accounts for 25% of CHD.ventricles. Accounts for 25% of CHD.

Ventricular Septal Defect• 4 Types4 Types• Perimembranous (or membranous)Perimembranous (or membranous) – Most common. – Most 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 PVR The 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 pressures This leads to elevated RV & pulmonary pressures & volume hypertrophy of the LA & LV.& volume hypertrophy of the LA & LV.



•• Small - moderate VSD, 3-6mm, are usually Small - 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 have Moderate – large VSD, almost always have

symptoms and will require surgical repair.symptoms and will require surgical repair.

Ventricular Septal DefectClinical Signs & SymptomsClinical Signs & Symptoms

•• 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 a more 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 treatment Symptomatic VSD - Medical treatment initially with afterload reducers & diuretics.initially with afterload reducers & diuretics.

Ventricular Septal DefectTreatmentTreatment

• 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 of developing Supracristal VSD of any size, secondary to risk of developing AV insufficiencyAV insufficiency..

Atrioventricular Septal Defect

• AVSDAVSD results from incomplete fusion the results from incomplete fusion the the endocardial cushions, which help to the 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 ventricular the membranous portion of the ventricular septum and the septal leaflets of the septum 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?

•• Answer:Answer:

Down’s Syndrome (Trisomy 21), Seen in Down’s Syndrome (Trisomy 21), Seen in 20-25% of cases.20-25% of cases.


Complete FormComplete Form• Low primum ASD Low primum ASD

continuous with a posterior continuous with a posterior VSD.VSD.

• Cleft in both septal leaflets Cleft in both septal leaflets of TV/MV.of TV/MV.

• Results in a large L to R Results 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 the Any one of the

components may be components may be present.present.

• Most common is primum Most common is primum ASD, cleft in the MV & ASD, cleft in the MV & small VSD.small VSD.

• Hemodynamics are Hemodynamics are dependent on the lesions.dependent on the lesions.


• Complete AVSDComplete AVSD

Atrioventricular Septal DefectClinical Signs & SymptomsClinical Signs & Symptoms

• Incomplete AVSD maybe indistinguishable from Incomplete 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.


Clinical Signs & SymptomsClinical Signs & Symptoms• Hyperactive precordiumHyperactive precordium• Normal or accentuated 1Normal or accentuated 1stst hrt sound hrt 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

Atrioventricular Septal DefectTreatmentTreatment

• Surgery is always required.Surgery is always required.

• Treat congestive symptoms.Treat congestive symptoms.• Pulmonary banding maybe required in premature infants or Pulmonary banding maybe required in premature infants or

infants < 5 kg.infants < 5 kg.• Correction is done during infancy to avoid irreversible Correction is done during infancy to avoid irreversible

pulmonary vascular disease.pulmonary vascular disease.

• Mortality low w/incomplete 1-2% & as high as 5% with Mortality low w/incomplete 1-2% & as high as 5% with complete AVSD.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% of Accounts for 10% of all CHD, seen in 10% of other congenital hrt lesions and can often play a other 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.

Patent Ductus Arteriosus


What TORCH infection is PDA associated What TORCH infection is PDA associated with?with?

•• AnswerAnswer: :

RubellaRubella


HemodynamicsHemodynamics• As a result of higher aortic pressure, blood shunts As 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 ductus Extent 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.


HemodynamicsHemodynamics• Large PDA, PA pressures are equal to Large 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 to of CO is shunted through the ductus to pulmonary circulation. pulmonary circulation.

• Leads to increased pulmonary vascular Leads to increased pulmonary vascular disease.disease.

Patent Ductus ArteriosusClinical Signs & SymptomsClinical Signs & Symptoms

• 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 pressure Widened 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

Patent Ductus ArteriosusTreatmentTreatment

• Indomethacin, inhibitor of prostaglandin Indomethacin, 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 intra Usually 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 region of is obstruction in the region of

either the pulmonary valve or the subpulmonary 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 valve Noonan’s Syndrome, secondary to valve dysplasia.dysplasia.

Pulmonary Stenosis


• RV pressure hypertrophy RV 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 stenosis W/intact septum & severe stenosis R-L R-L shunt through PFO shunt through PFO cyanosis. cyanosis.

• Cyanosis is indicative of Critical PS.Cyanosis is indicative of Critical PS.

Pulmonary Stenosis

Clinical Signs & SymptomsClinical Signs & Symptoms• 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 delay hrt 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 outflow is an obstruction to the outflow from the left ventricle at or near the aortic valve from the left ventricle at or near the aortic valve that causes a systolic pressure gradient of more that 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 stenosis Which syndrome is supravalvular stenosis found in?found in?

• Answer:Answer:

Williams SyndromeWilliams Syndrome

Aortic Stenosis


• Pressure hypertrophy of the LV and LA Pressure hypertrophy of the LV and LA with obstruction to flow from the LV.with obstruction to flow from the LV.

• Mild AS Mild AS 0-25mmHG0-25mmHG

• Moderate AS Moderate AS 25-50mmHg25-50mmHg

• Severe AS Severe AS 50-75mmHg50-75mmHg

• Critical ASCritical AS > 75mmHg > 75mmHg

Aortic Stenosis

Clinical Signs & SymptomsClinical Signs & Symptoms• 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 StenosisTreatmentTreatment

• Because surgery does not offer a cure it is reserved Because surgery does not offer a cure it is reserved for patients with symptoms and a resting gradient of for patients with symptoms and a resting gradient of 60-80mmHg.60-80mmHg.

• For For subaortic stenosissubaortic stenosis it is reserved for gradients of it is reserved for gradients of 40-50mmHg because of it’s rapidly progressive 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 after Aortic 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 the points 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 coarctation What other heart anomaly is coarctation associated with?associated with?

• Answer:Answer:

Bicuspid aortic valve, seen in > 70% of Bicuspid aortic valve, seen in > 70% of cases.cases.



What genetic syndrome is coarctation seen What genetic syndrome is coarctation seen in?in?

• Answer:Answer:

Turner’s SyndromeTurner’s Syndrome



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

Coarctation of the AortaClinical Signs & SymptomsClinical Signs & Symptoms

• Classic signs of coarctation are diminution or absence of Classic signs of coarctation are diminution or absence of femoral pulses.femoral pulses.

• Higher BP in the upper extremities as compared to the Higher BP in the upper extremities as compared to the lower extremities.lower extremities.

• 90% have systolic hypertension of the upper extremities.90% have systolic hypertension of the upper extremities.

• Pulse discrepancy between rt & lt arms.Pulse discrepancy between rt & lt arms.


Clinical Signs & SymptomsClinical Signs & Symptoms• 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 ductus with With severe coarctation maintaining the ductus with

prostaglandin E is essential.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 is the Re-coarctation can occur, balloon angioplasty is the procedure of choice.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 the occiput and facial profile are flat, and the

fontanelle is abnormally enlarged. The space fontanelle 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 the there is a palmar crease extending across the

left palm. Room air oximetry reveals a saturation left palm. Room air oximetry reveals a saturation

70%.70%.

Questions

Of the following, the MOST likely lesion to Of 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 with tachypnea, a 3 week old presents with

hypotension, poor central and peripheral hypotension, poor central and peripheral

pulses, and severe metabolic acidosis. A pulses, and severe metabolic acidosis. A

gallop is audible, and the heart appears gallop is audible, and the heart appears

enlarged on chest radiography. Hepatomegaly enlarged on chest radiography. Hepatomegaly

is marked.is marked.

Questions

Of the following, the BEST intervention to Of the following, the BEST intervention to

produce a sustained improvement is produce 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 first defect. 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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