Term
| pediatric congenital heart defecxts epidemiology |
|
Definition
Present at birth, may present later
• Most common birth defect ~1% of live births
• About 1/3 of those with CHD require intervention, either with surgery
or catheterization in first year of life
• CHD – leading cause of mortality from birth defects in developed
countries
• Etiology of CHD – poorly
understood
• Majority of CHD secondary
to genetic mutations.
• Some studies have
suggested populationspecific
genetic contributions |
|
|
Term
|
Definition
Parallel circulation 3
circulatory shunts :
• Ductus Venosus (DV)
• Foramen Ovale (FO)
• Ductus arteriosus(DA)
Deliver most oxygenated
blood to the brain, and
coronaries. |
|
|
Term
|
Definition
• Begins with the first breath as spontaneous respiration is begun
• ↓ in pulmonary vascular resistance and ↑ systemic vascular
resistance
• ↑oxygen content in the pulmonary vascular bed → pulmonary
vasodilation → increase in pulmonary blood flow
• Increase in left atrial pressure →closure of the flap of foramen ovale
• Expansion of lungs with air – increased oxygen tension ..> closure
of the ductus arteriosus |
|
|
Term
| Post natal transition abnormalities classificaxtion |
|
Definition
• Left to right shunts (Non cyanotic )
• Right to left shunts (Cyanotic)
• Left sided obstructive lesions
• Other complex CHD – single ventricle, Double outlet right ventricle,
etc. |
|
|
Term
|
Definition
• Atrial septal defects (ASD)
• Ventricular septal defects (VSD)
• Patent ductus arteriosus (PDA) |
|
|
Term
| Atrial septal defect (ASD) |
|
Definition
Second most common
• Types
• Secundum ASD – most common among ASD
• Primum ASD – usually associated with AV canal defect
• Sinus venosus |
|
|
Term
| Atrial septal defect (ASD) physiology |
|
Definition
• Low pressure shunt
• Flow dictated by
difference in relative
diastolic compliance of
RV and LV.
• Shunt : RA→LA
• Chamber enlargement
RA, RV, PA
• Pulmonary hypertension |
|
|
Term
| Atrial septal defect (ASD) Presentation |
|
Definition
• Usually late childhood, adulthood
• SOB, exercise intolerance
• Exam:
- Systolic ejection murmur (relative PS)
- Diastolic murmur
- Wide and fixed split S2
• EKG : RA enlargement, RV conduction delay.
• CXR : Mild cardiomegaly, increased pulmonary vascularity
• Echocardiogram |
|
|
Term
| Atrial septal defect (ASD) Diagnostic work up |
|
Definition
• EKG : RA enlargement,
RV conduction delay,
RVH
• CXR : mild
cardiomegaly, increased
pulmonary vascularity
• Echo
• Cardiac catheterization |
|
|
Term
| Atrial septal defect (ASD) Management |
|
Definition
• Observation for spontaneous closure
• Elective closure ~ 3 years of age
• Surgical:
- Patch closure
- Primary closure
• Trans-catheter device closure:
-Location: only secundum defects
- Presence of sufficient rims |
|
|
Term
| Ventricular Septal defects |
|
Definition
• Most common form of CHD ~ 20 %-30%
• Different types based on location
• Frequently associated with various syndrome (eg. Trisomy 21)
- Parts of the ventricular septum:
• Inlet septal
• Muscular or trabecular septum
• Outlet septum
- Types of VSDs:
• Conoventricular
• Inlet
• Muscular
• Supracristal (outlet) |
|
|
Term
|
Definition
• Underneath the aorta in LV
and the tricuspid valve in the
RV
• Aneurysmal tricuspid tissue
may form→spontaneous
closure
• Aortic cusp prolapse →
Aortic regurgitation |
|
|
Term
|
Definition
• Single or multiple
• Spontaneous closure |
|
|
Term
|
Definition
Commonly seen with
atrioventricular defects
• Most posteriorly located
• Superior frontal QRS axis on
EKG
• Would need surgical closure |
|
|
Term
|
Definition
• Outflow region of the RV
• Under both semi-lunar
valves
• Aortic valve prolapse and
aortic regurgitation
• Associated with morbidity
• Would need surgical
closure |
|
|
Term
|
Definition
- Vascular resistances (
Blood flow from high
pressure – low pressure
chamber)
- Shunting LV→ RV
- For large VSDs :
• Chambers dilated – PA,
pulmonary vascular
bed LA, LV
• Pulmonary Vascular
disease – exposure to
systemic pressure |
|
|
Term
|
Definition
-Large defects: around 4-6 weeks of age
• Poor feeding, tachypnea, diaphoresis with feeds (CHF)
• Tachypnea, tachycardic, active precordium,
• Murmur- holosystolic + diastolic rumble
• Gallop
- Small defects : asymptomatic
• Normal growth
• Quiet precordium
• Louder murmur – harsher +/- thrill |
|
|
Term
|
Definition
• CXR
• EKG – LVH, LA enlargement
• Echo
Cardiac cath:
• Qp: Qs
• Pulmonary hypertension |
|
|
Term
|
Definition
Observe and follow up spontaneous closure
• Medical treatment with anti-congestive
medications, optimization of nutrition
• Surgical – Patch closure
• Trans-catheter closure- muscular defects |
|
|
Term
| VSD Outcomes and long term |
|
Definition
-Good overall outcomes
- No major long term deficits
- Bacterial endocarditis prophylaxis
• Unrepaired – none
• Repaired VSD • 6 months post repair • Residual shunt
- No exercise restrictions |
|
|
Term
|
Definition
• Connects aorta to pulmonary artery
• Normal structure during fetal life
• Closes spontaneously after birth
• Premature babies- delayed closure |
|
|
Term
| Patent Ductus Arteriosus physiology |
|
Definition
• Flow – difference in
vascular resistances
• Aorta → PA
• increased flow to
PA, pulmonary
capillaries,
pulmonary veins,
LA, LV
• exposure of the pulmonary
vasculature to high pressure–
vascular disease over time |
|
|
Term
| Patent Ductus Arteriosus Presentation |
|
Definition
• If small (restrictive), continuous murmur, no
symptoms
• If large, continuous murmur with signs of
congestive heart failure (tachypnea, slow
growth at 3 to 6 weeks of age)
• CHF earlier in premature infants |
|
|
Term
| Patent Ductus Arteriosus Management |
|
Definition
-Medical management
• Anti congestive medications
• Premature babies - indomethacin
- Surgical management
• PDA ligation for Premature infants, newborns with CHF
- Trans-catheter
• Coil or device closure
• Also a possibility in premature babies |
|
|
Term
| Cyanotic Congenital heart defects |
|
Definition
• Tetralogy of Fallot
• Transposition of great arteries
• Pulmonary stenosis
• Tricuspid atresia
• Total anomalous pulmonary venous return |
|
|
Term
|
Definition
• Most common cyanotic CHD
• 0.25 per 1000 live births
• Entails :
1. Ventricular Septal defect
2. Stenotic pulmonary valve,
pulmonary arteries
3. Over-riding aorta
4. Right Ventricular hypertrophy
• Commonly associated with 22 q
11 del |
|
|
Term
| Tetralogy of Fallot Physiology |
|
Definition
• Obstruction to blood flow in the
right ventricular outflow tract,
across PV →Right to left flow
across VSD→ cyanosis
• Degree of pulmonary stenosis
will detect degree of cyanosis |
|
|
Term
| Tetralogy of Fallot Presentation |
|
Definition
• Cyanosis – birth to early months
• Exam
• Prominent right ventricular impulse/ RV heave
• Systolic ejection murmur
• Single S2 |
|
|
Term
| Tetralogy of Fallot Diagnostic Work up |
|
Definition
• CXR - “ boot” shaped heart
• EKG- RA enlargement, RVH
• Echo |
|
|
Term
| Tetralogy of Fallot Management |
|
Definition
- Mild pulmonary stenosis – observe and elective surgery ~ 4-6
months
Severe stenosis
• Palliative surgery : BT shunt or PDA stent
• Complete repair : VSD closure + relief of pulmonary obstruction.
- Transannular patch – no PV – results in severe pulmonary
regurgitation
- Pulmonary valve sparing – pulmonary valvotomy.
- RV-PA conduit |
|
|
Term
| Long term outcomes Tetralogy of Fallot |
|
Definition
• Significantly improved survival in infancy
• Risk of RV dilation, RV dysfunction, arrhythmias, sudden cardiac
death in adulthood
• Need for subsequent surgeries or interventions – replacement of
pulmonary valve – surgical or trans –catheter
• Need for SBE ppx 6 month after surgery
• Life long cardiology follow up – MRI, Holter monitoring |
|
|
Term
| Transposition of great arteries |
|
Definition
• Left ventricle – Pulmonary
artery
• Right ventricle – aorta |
|
|
Term
| Transposition of great arteries Physiology |
|
Definition
• Parallel circulations
• Mixing is essential to
maintain tissue
oxygenation
- Atrial level – PFO,
ASD
- Ductus arteriosus -
PDA |
|
|
Term
| Transposition of great arteries Presentation |
|
Definition
• Extreme cyanosis at birth
• Mottled appearance – tissue hypoxia, acidosis
• Exam : No murmur |
|
|
Term
| Transposition of great arteries Diagnostic Work up |
|
Definition
• CXR – “Egg on string”
• EKG- usually normal
• Echo
• Cardiac catheterization
- Balloon septostomy
- Coronary artery anatomy |
|
|
Term
|
Definition
• Immediately at birth - PGE1 infusion to maintain patency of ductus
arteriosus
• Atrial balloon septostomy
• Surgical repair – neonatal period
- Arterial switch - Current
- Atrial switch – Old |
|
|
Term
Transposition of the great arteries
Arterial switch operation Long term outcomes |
|
Definition
• Excellent survival outcome post repair
• Long term morbidities and need for intervention
• Risk of sudden cardiac death
• Healthy life style modification. |
|
|
Term
|
Definition
• “Doming pulmonary valve” – Fusion of commissures
• “Dysplastic pulmonary valve”
• Fourth most common cyanotic CHD
• Incidence of 25 per 100000 live births
• Commonly associated syndromes – Noonan, Williams, Congenital
rubella, Alagille |
|
|
Term
| Pulmonary Valve stenosis Physiology |
|
Definition
Depends on the degree of obstruction
• Obstruction at outflow ..> Elevation of systemic RV pressure ..>
Elevation of RA pressure …> right to left shunting at the PFO ..>
cyanosis |
|
|
Term
| Pulmonary Valve stenosis Presentation |
|
Definition
• Presentation depends on degree
- Mild – usually later due to a murmur
- Moderate
- Severe
- Critical
• Can progress ..unusual beyond first year of life
• Examination : Right ventricular impulse, early systolic click, ejection
systolic murmur
• EKG- RVH , ? RA enlargement |
|
|
Term
| Pulmonary Valve stenosis Management |
|
Definition
Critical- PGE1 infusion
• Intervention:
- Pulmonary valvuloplasty - transcatheter
- PDA stent
- Surgical pulmonary valvotomy |
|
|
Term
| Left sided obstructive lesions |
|
Definition
• Coarctation of aorta
• Aortic valve stenosis
• Hypoplastic left heart Syndrome |
|
|
Term
|
Definition
• Obstruction in aortic arch
• Usually at the aortic isthmus,
after take off of the left
subclavian artery
• Discreet or long segment
• 5 – 7% of CHD
• 12% incidence with Turner
Syndrome |
|
|
Term
| Coarctation of aorta Presentation |
|
Definition
• Severe obstruction presents as CHF progressing to shock at 1
to 2 weeks of age
• Milder obstruction presents as upper extremity hypertension
with decreased femoral pulses
• May have a murmur at the left back – formation of collaterals |
|
|
Term
| Coarctation of aorta Diagnostic Work up |
|
Definition
• 4 extremity Blood pressures
• EKG – may be normal
• CXR – “3” sign
• Echo
• Cardiac catheterization |
|
|
Term
| Coarctation of aorta Management |
|
Definition
- Neonates – need PGE1 therapy to keep the ductus arteriosus
patent.
- Surgical
• End-to-end anastomosis
• Arch augmentation
- Trans-cath eter balloon dilation:
• 6 months- 7 years
• Stent placement > 7 y of age |
|
|
Term
| Coarctation of aorta Long term outcomes |
|
Definition
• Excellent neonatal surgical outcomes
• Recurrence or risk of re-coarctation – amenable to trans catheter
interventions
• Systemic hypertension
• Healthy lifestyle modification |
|
|
Term
|
Definition
- Bicuspid aortic valve
• AS , AR
• Aortic root and ascending aorta dilation
- Varying degrees of obstruction
• Mild
• Moderate
• Severe
• Critical (PDA dependent) |
|
|
Term
| Aortic Valve stenosis Presentation |
|
Definition
• Depends on degree of obstruction
• Severe or critical– present within hours of life - CHF , shock
• Examination : early systolic click , systolic ejection murmur
• EKG- LVH |
|
|
Term
| Aortic Valve stenosis Management |
|
Definition
• Mild – observation with serial EKG, echocardiogram – can
progress
• Critical AS - PGE1initiation
• Intervention: Trans-catheter balloon valvuloplasty
• Surgical repair
- ROSS procedure
- Prosthetic valve replacement – usually wait until
adolescents |
|
|
Term
| Aortic Valve stenosis Long term anticipatory guidance |
|
Definition
• Risk for need of reintervention
→ AVR, aortic
root/ ascending aorta
replacement
• Avoid contact sports ,
heavy weight lifting but
aerobic exercise is highly
encouraged
• Blood pressure control –
treatment for hypertension |
|
|
Term
| Hypoplastic Left Heart Syndrome |
|
Definition
• Atresia or severe stenosis of the
aortic valve and/or mitral
valve(MS+AS, MS+AA, MA+AA)
• Severely hypoplastic LV
• Ductal dependent
• Essentially single functional
ventricle |
|
|
Term
| Hypoplastic Left Heart Syndrome Management |
|
Definition
- PGE1 for ductal patency
- Single ventricle palliation through 3 stages
• Stage 1: Norwood (reconstruction of aortic arch, BT shunt or Sano
shunt, DKS – anastomosis of the main pulmonary artery to aorta) • Unobstructed systemic outflow • Adequate mixing at atrial level • Adequate pulmonary blood flow
• Bidirectional Glenn • Gradual unloading of the ventricle
• Fontan • Complete separate of systemic and pulmonary circuits |
|
|
Term
Shunt physiology
Norwood with BT shunt |
|
Definition
• Balance between PVR and
SVR
• ↑ PVR → desaturations
• ↑SVR → less systemic output
and hypoperfusion
• Diastolic steal →coronary
hypoperfusion |
|
|
Term
Shunt physiology
Norwood with Sano |
|
Definition
RV is the single pumping
chamber →less dependent on
PVR and SVR
• No diastolic steal |
|
|
Term
Cavo-pulmonary connection
physiology |
|
Definition
• Glenn : SVC – PA connection
• Fontan: IVC – PA connection
• Passive flow from systemic circuit to pulmonary bed ..> transpulmonary
gradient (PA pressure – Pulmonary Capillary Wedge
Pressure)
- low PVR
- Good systolic and diastolic function of the ventricle
- AV valve competence |
|
|
Term
| Cavo-pulmonary connection Long term outcomes |
|
Definition
One of the most complex and highest morbidity
• Long term issues – arrhythmias, sudden cardiac death, plastic
bronchitis, liver failure, need for pacemakers, cardiac transplantation
• Avoid contact sports – aspirin
• Healthy lifestyle modification |
|
|
