Congenital Heart Disease Part I

1
Congenital Heart DiseasePart I

• By
• Katrice L. Herndon, M.D.

2
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)

3
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.

4
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.

5
Atrial Septal Defect

• Secundum ASD

• Sinus Venosus ASD

6
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.

7
Atrial Septal Defect

• Clinical Signs Symptoms
• Hyperactive precordium, RV heave, fixed widely
  split S2.
• II-III/VI systolic ejection murmur _at_ LSB.
• Mid-diastolic murmur heard over LLSB.

8
Atrial Septal Defect

• Question
• What causes the systolic diastolic murmurs
  of ASD?
• Answer
• Systolic murmur is caused by increased flow
  across the pulmonary valve, NOT THE ASD.
• Diastolic murmur is caused by increased flow
  across the tricupsid valve this suggest high
  flow QpQs is 21.

9
Atrial Septal Defect

• Treatment
• Surgical or catherization laboratory closure is
  generally recommended for secundum ASD w/ a QpQs
  ratio gt21.
• 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.

10
Atrial Septal Defect

• Treatment
• Once pulmonary HTN w/ shunt reversal occurs
  this is considered too late.
• Mortality is lt 1.

11
Atrial Septal Defect

• Question
• Is endocarditis prophylaxis required for
• ASD?
• Answer
• NO

12
Ventricular Septal Defect

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

13
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.

14
Ventricular Septal Defect

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

15
Ventricular Septal Defect

• Clinical Signs Symptoms
• Small - moderate VSD, 3-6mm, are usually
• asymptomatic and 50 will close spontaneously
• by age 2yrs.
• Moderate large VSD, almost always have
• symptoms and will require surgical repair.

16
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

17
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.

18
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 gt 24 mo w/ QpQs ratio gt 21.
• Supracristal VSD of any size, secondary to risk
  of developing AV insufficiency.

19
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.

20
Atrioventricular Septal Defect

• Question
• What genetic disease is AVSD more
• commonly seen in?
• Answer
• Downs Syndrome (Trisomy 21), Seen in 20-25
  of cases.

21
Atrioventricular Septal Defect

• Complete Form
• Low primum ASD continuous with a posterior VSD.
• Cleft in both septal leaflets of TV/MV.
• Results in a large L to R shunt at both levels.
• TR/MR, Pulm HTN w/ increase in PVR.

• Incomplete Form
• Any one of the components may be present.
• Most common is primum ASD, cleft in the MV
  small VSD.
• Hemodynamics are dependent on the lesions.

22
Atrioventricular Septal Defect

• Complete AVSD

23
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.

24
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 _at_ apex w/radiation to axilla
• Mid-diastolic rumbling murmur _at_ LSB
• Marked cardiac enlargement on CX-Ray

25
Atrioventricular Septal Defect

• Treatment
• Surgery is always required.
• Treat congestive symptoms.
• Pulmonary banding maybe required in premature
  infants or infants lt 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.

26
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 other
  congenital hrt lesions and can often play a
  critical role in some lesions.
• Female Male ratio of 21
• Often associated w/ coarctation VSD.

27
Patent Ductus Arteriosus

• Question
• What TORCH infection is PDA associated with?
• Answer
• Rubella

28
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
  PVRSVR.
• Small PDA, pressures in PA, RV, RA are normal.

29
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.

30
Patent Ductus Arteriosus

• Clinical Signs Symptoms
• Small PDAs are usually asymptomatic
• Large PDAs 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

31
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 lt 1

32
Obstructive Heart Lesions

• Pulmonary Stenosis
• Aortic Stenosis
• Coarctation of the Aorta

33
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.

34
Pulmonary Stenosis

• Question
• What syndrome is PS associated with?
• Answer
• Noonans Syndrome, secondary to valve dysplasia.

35
Pulmonary Stenosis

• Hemodynamics
• RV pressure hypertrophy ? RV failure.
• RV pressures maybe gt 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.

36
Pulmonary Stenosis

• Clinical Signs Symptoms
• Depends on the severity of obstruction.
• Asymptomatic w/ mild PS lt 30mmHg.
• Mod-severe 30-60mmHg, gt 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.

37
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.

38
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.

39
Aortic Stenosis

• Question
• Which syndrome is supravalvular stenosis found
  in?
• Answer
• Williams Syndrome

40
Aortic Stenosis

• Hemodynamics
• Pressure hypertrophy of the LV and LA with
  obstruction to flow from the LV.
• Mild AS 0-25mmHG
• Moderate AS 25-50mmHg
• Severe AS 50-75mmHg
• Critical AS gt 75mmHg

41
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.

42
Aortic Stenosis

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

43
Aortic Stenosis

• Treatment
• Because surgery does not offer a cure it is
  reserved for patients with symptoms and a resting
  gradient of 60-80mmHg.
• For subaortic stenosis it is reserved for
  gradients of 40-50mmHg because of its rapidly
  progressive nature.
• Balloon valvuloplasty is the standard of
  treatment.

44
Aortic Stenosis

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

45
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 31.
• Accounts for 7 of all CHD.

46
Coarctation of the Aorta

• Question
• What other heart anomaly is coarctation
  associated with?
• Answer
• Bicuspid aortic valve, seen in gt 70 of cases.

47
Coarctation of the Aorta

• Question
• What genetic syndrome is coarctation seen in?
• Answer
• Turners Syndrome

48
Coarctation of the Aorta

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

49
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.

50
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 _at_ LSB.
• Cardiomegaly, rib notching on X-ray.

51
Coarctation of the Aorta
52
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.

53
Questions

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

54
Questions

• Of the following, the MOST likely lesion to
• be found on echocardiography would be
• Atrioventricular septal defect
• Coarctation of the aorta
• Hypoplastic left heart
• Total anomalous pulmonary venous return
• Truncus arteriosus

55
Questions

• After a few days of poor feeding and
• tachypnea, a 3 week old presents with
• hypotension, poor central and peripheral
• pulses, and severe metabolic acidosis. A
• gallop is audible, and the heart appears
• enlarged on chest radiography. Hepatomegaly
• is marked.

56
Questions

• Of the following, the BEST intervention to
• produce a sustained improvement is
• 100 Oxygen administration
• Dopamine infusion
• Gamma globulin infusion
• Phenylephrine infusion
• Prostaglandin E infusion

57
Questions

• A term infant is born with a large ventricular
  septal
• defect. At what age is the infant most likely to
  first
• demonstrate clinical findings of CHF
• 2 days
• 2 weeks
• 2 months
• 6 months
• 12 months