Congenital Heart Disease

1
Congenital Heart Disease

• J.B. Handler, M.D.
• Physician Assistant Program
• University of New England

2
Abbreviations

• ASD- atrial septal defect
• VSD- ventricular septal defect
• PDA- patent ductus arteriosus
• PS- pulmonic stenosis
• HF- heart failure aka CHF- congestive heart
  failure
• SAP- systolic arterial pressure
• RV- right ventricle
• LV- left ventricle
• PA- pulmonary artery
• PAH- pulmonary arterial hypertension
• LVSP- left ventricular systolic pressure
• PFO- patent foramen ovale
• LAE- left atrial enlargement

• PVOD- pulmonary vascular obstructive/occlusive
  disease
• PuVR- pulmonary vascular resistance
• SVR- systemic vascular resistance (same as TPR,
  PVR)
• CO- cardiac output
• PAPVC- partial anomolous pulmonary venous
  connection
• Sx- symptoms
• Qp/Qs- pulmonary blood flow/systemic blood flow
• LLSB- lower left sternal border
• RVSP- right ventricular systolic pressure
• PFO- patent foramen ovale
• MCA- middle cerebral artery

3
Incidence and Etiology

• 8 per thousand births- one third with critical
  disease.
• Majority (gt80 survive to adulthood)

4
Incidence -Specific Defects

• VSD - 28
• Pulmonic Stenosis - 9.5
• Tetralogy of Fallot- 8-10 (complex ConHD)
• PDA - 8.7
• ASD - 6.7
• Coarctation of the Aorta - 4.4
• Aortic Stenosis - 4.4
• Congenital Coronary Anomalies - 1.2

5
Complications-CHD

• HF (aka CHF) May be early in life depending on
  the defect and its severity. HF as adult with
  milder forms of congenital heart disease if not
  corrected.
• Cyanosis Common with defects that result in R?L
  shunting of blood. Also occurs in presence of
  severe hypoxemia from other causes (e.g severe
  HF).
• Clubbing of fingers occurs when cyanosis is long
  standing.
• Hypoxemia from HF responds to O2 hypoxemia from
  R?L shunting does not.

6
Clubbing of Fingers
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7
Complications of CHD

• Polycythemia Hct gt60 common with R?L shunting
  and associated chronic hypoxemia.
• Paradoxical Emboli Venous thrombus ends up in
  systemic circulation. See below.
• Stroke
• Polycythemia from R-L shunting can lead to direct
  intracranial thrombosis.
• Paradoxical embolus as noted.
• Retardation of growth

8
Additional Complications-CHD

• Pulmonary Arterial Hypertension (PAH)-Direct
  transmission of SAP to RV or PA via a large
  communication (e.g. VSD, PDA).
• Pulmonary Vascular Obstructive Disease
  (PVOD)-Destruction of pulmonary vascular
  (arteriolar) bed in presence of continuous
  pressure overload (much less common with volume
  overload alone) results in marked increase in
  PuVR and further elevation of PAP.

9
Ventricular Septal Defect

• An opening in that part of the ventricular septum
  that separates the two ventricles.
• 80 involve the thin membranous septum.
• 20 involve the muscular septum.
• Isolated vs complex lesions
• Assoc. conditions Coarct. of the Aorta, ASD,
  PDA, sub-aortic stenosis

10
VSD
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11
Abnormal Physiology (VSD)

• Small restrictive VSD large resistance to flow
  through small hole normal RVP and PAP small L
  to R shunt well tolerated.
• Mod/large VSDs allow varying transmission of LVP
  into the RV?PA. PAH common and PVOD develops
  over time. Large defects result in LV dilation
  and failure.

12
Clinical Manifestations (VSD)

• History Varies depending on size of defect.
• Small VSD- no symptoms murmur appears within 36
  hrs of birth intensity may change with age.
• Larger defects- HF early in life surgical repair
  indicated.
• Small defect- Possible systolic thrill at LLSB
  nl S2 harsh holosystolic murmur along LSB.
• Large defect signs and symptoms of heart
  failure.

13
Investigative Findings (VSD)

• CxR variable findings reflect severity of
  shunting. When severe, cardiomegaly, enlarged
  PA, HF.
• ECG variable findings depending on severity and
  duration.
• Echo-Doppler - diagnostic identifies the size
  and location of the defect and presence of
  shunting RV and PA pressures can be estimated .

14
Natural History (VSD)

• Majority of VSDs are small 24 close
  spontaneously by 18 mos, 50 by 4 yrs, more by 10
  yrs. Larger defects may become smaller but do
  not close.
• HF occurs in 80 of infants with large VSD. Risk
  of PVOD is high in moderate to large defects.
• Risk of endocarditis if defect remains open
  (regardless of size). But. endocarditis
  prophylaxis with antibiotics no longer indicated
  risk of antibiotics outweighs benefits.

15
Management (VSD)

• Medical with small VSD need regular follow up
  periodic echo-doppler study will confirm closure.
• Moderate and large VSD treat HF as in adults
  surgical repair once HF improved.
• Timing of surgery dependent on severity of shunt,
  LV function and PAP closure in early childhood
  years when PAP remains elevated.
• With most VSDs primary closure or a patch can be
  placed surgically with lt1 mortality normal life
  expectancy if done early in life, before
  developing PVOD. Catheter based techniques for
  closure are evolving?promising.

16
VSD Long Term Complications

• If PAH continues over time ? progressive,
  irreversible PVOD develops and surgery carries
  high mortality, with little if any benefit.
• In presence of significant PVOD PuVR and PAP
  rise dramatically. This can lead to shunt
  reversal?R to L shunting? hypoxemia and Rt sided
  heart failure (Eisenmengers physiology/complex).

17
Case 1

• A 31 y/o professional football player returns
  from Hawaii (long plane flight) following the Pro
  Bowl (2004). On returning home he has sudden
  onset of numbness and weakness in his left arm
  (LA) and leg (LL) along with a small visual field
  defect.
• PE Healthy man, anxious. Neuro ?sensation and
  strength in LAgtLL ?reflexes on left side. Legs
  bruising of rt calf and thigh.
• MRI rt hemispheric stroke (MCA territory)
• Venous ultrasound Inconclusive ? thrombus in
  RLE
• What is going on here?

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Atrial Septal Defect

• A through and through communication between the
  atria at the septal level.
• Pathology Large enough defect to allow free
  communication between the atria.
• Most common form (previously undetected) of CHD
  in adults female to male ratio is 21.
• Atrial septum formed by fusion of 2 overlapping
  planes of tissue during fetal development. Most
  ASDs occur in mid septum due to lack of tissue
  for overlap.

Lack of fusion occurs in up to 25 of adults
leaving a patent foramen ovale, a potential
space/opening between the two atria.
19
Patent Foramen Ovale
20
ASD
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21
Anatomic Types of ASD

• Ostium secundum -defect in mid septum at the
  fossa ovalis (80) from incomplete development.
• Associated partial anomalous pulmonary venous
  connection is not uncommon MVP present in some.
• Ostium primum- defect in lower atrial septum
  usually associated with additional defects.
• Sinus venosus defect (6) - defect high in the
  atrial septum.

22
Conditions Common to all ASDs

• RA, RV and PA enlarge - volume overload
• Pulmonary HTN usually occurs late (3rd or 4th
  decade) if lesion goes undetected up to that time
  in life result of chronic volume overload x
  years.
• PVOD uncommon
• Why left to right shunting?

23
Abnormal Physiology (ASD)

• L to R shunting at atrial level due to
• Rt atrium more distensible than left
• RV more compliant than LV
• PuVR ltSVR
• Hemodynamic burden RV volume overload and
  increased pulmonary blood flow well tolerated
  for many years.

24
Clinical Presentation (ASD)

• Majority of children are asymptomatic
• Symptoms when present include fatigue, dyspnea,
  decreased stamina and usually begin in early
  20s.
• Most adults become increasingly symptomatic by
  3rd or 4th decade fatigue, dyspnea and atrial
  arrhythmias (Afib).
• Paradoxical emboli can result in stroke Tedi
  Bruschi, NE Patriots. Venous embolus?RA through
  PFO ?LA?LV?Rt carotid?MCA.

Patent foramen ovale incomplete fusion of
atrial septum (tiny defect) allows clot to pass
from RA to LA
25
Physical Exam (ASD)

• Hyperdynamic RV (lift) RV volume increase leads
  to ?contraction via Starling mechanism.
• S1 accentuated at LLSB
• S2 widely split through inspiration/expiration
  RV ejection is delayed from volume overload.
• Grade II-III midsystolic creshendo-decreshendo
  mumur, at upper LSB reflects increased blood flow
  across pulmonic valve. Present during childhood.

26
Investigative Findings

• ECG rsR pattern in Rt precordial leads with
  mildly widened QRS (incomplete RBBB) arrhythmias
  common in adults-Afib, Aflutter.
• Echo-Doppler RV volume overload enlarged RV,
  RA 2D echo and doppler identify the defect and
  semi quantitate the shunt.
• Cardiac cath Measurement of RV/PA pressures
  quantification of shunting identification of
  anomalous pulmonary veins if present. Closure of
  ASD often performed percutaneously using
  catheters/devices.

27
Natural History and Prognosis

• Defect often missed in childhood?listen for
  murmurs.
• A systolic ejection murmur is the usual reason
  for further evaluation (echocardiogram or
  consult).
• Sx often begin in late teens and 20s if large
  ASD
• PA pressures start to rise in early 20s
• Incidence of Atrial Fibrillation and Flutter
  increases each decade.
• Heart failure (Rt sided) and premature death
  occur in adults without surgery.

28
Management (ASD)

• Once Sx present (includes paradoxical emboli) ?
  surgical/catheter closure.
• If no Sx? surgical/catheter closure recommended
  if QpQs is gt 1.51, or if PAH present.
• Transcatheter closure devices (double umbrella)
  applicable to patients with smaller defect.

QpQs- pulmonary to systemic blood flow
29
Surgical Management (ASD)

• Direct suture closure or pericardial patch.
• If present, partial anomalous pulmonary veins are
  re-routed to the left atrium.
• Surgical risk is very low (lt1 mortality).
  Closure is highly recommended in pre-school or
  pre-adolescent years.

30
Pulmonic Stenosis

• Pathology Dome shaped stenosis of the PV most
  common form. RV develops concentric hypertrophy
  and reflects degree of obstruction at the
  valvular level.
• Can be associated with other congenital defects
  such as VSD (see Tetralogy of Fallot, below).

31
Pulmonic Stenosis
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32
Abnormal Physiology (PS)

• PV area must be reduced by 60 or more to be
  hemodynamically significant.
• Peak systolic gradient gt 40mmHg - moderate PS
• Peak systolic gradient gt 75mmHg -severe PS
• Major hemodynamic burden is Rt ventricular
  pressure overload. Expected ECG finding?
• RV failure occurs with severe obstruction,
  resulting in decreased CO and related Sx and
  signs.

33
Clinical Manifestations (PS)

• Occurs 10 all congenital lesions most infants
  and children asymptomatic unless obstruction is
  severe- DOE, fatigue.
• Physical exam
• Systolic thrill-suprasternal notch prominent RV
  impulse upper LSB.
• Early systolic click upper LSB.
• Murmur is loud (Gr 3-4), harsh,
  crescendo-decrescendo at upper LSB radiating
  towards clavical and louder with inspiration.
  Duration of murmur correlates with severity of
  obstruction.

34
Investigative Findings (PS)

• CxR-usually normal
• ECG- Mild - normal severe- RVH
• Echo/Doppler - Identifies obstruction estimates
  severity of PS.
• Cath- usually not needed to make diagnosis but
  performed for treatment purposes
• Baloon valvuloplasty opens stenotic valve.

35
Natural History/Prognosis

• Mild to moderate stenosis - well tolerated
  frequent follow up and echo/doppler necessary as
  progressive PS may develop over time.
• Severe stenosis - poor prognosis without
  intervention RV failure develops with premature
  death in adults.

36
Management of PS

• Infants with severe PS - valvuloplasty.
• In children and adults timing of valvuloplasty
  dependent on gradientNo intervention for
  gradient lt 25mm.Valvuloplasty always indicated
  for gradient gt75mm.
• Ballon valvuloplasty has replaced surgery as a
  first approach.

37
PS Balloon Valvuloplasty
38
Patent Ductus Arteriosus
Images.google.com
39
Patent Ductus Arteriosus (PDA)

• Persistent patency of the vessel that normally
  connects the pulmonary arterial system and the
  aorta in the fetus.
• PDA normally closes within 2-3 days after birth.
  It runs from the origin of the LPA to the lower
  aortic arch just beyond the left subclavian
  artery.
• Ductus often remains open in pre-term deliveries.
• Important to differentiate from post-term PDA

40
Abnormal Physiology (PDA)

• Small ductus- high resistance to flow well
  tolerated small left to right shunt.
• Moderate ductus- elevated PAP, significant
  shunting.
• Large ductus- Ao and PA in free communication
  equal pressures with marked left to right
  shunting, pulmonary congestion, LV dysfunction
  and failure, and development of PVOD.

41
Clinical Manifestations (PDA)

• History- maternal exposure to rubella premature
  deliveries.
• Symptoms variable with large shunt, HF develops
  in first weeks of life.
• PE - Systolic thrill over PA in suprasternal
  notch and LSB apical and RV impulse
  increased.Murmur is a continuous (through
  systole and diastole) machinery murmur Gr IV or
  louder at LSB (3rd and 4th ICS) and below
  clavicle-peaks near S2.

42
Additional Findings

• Dependent on size of ductus/degree of shunting
• CxR- increased LA, LV, pulmonary vascularity
  (shunt vascularity).
• ECG LAE/LAA and LVH.
• Echo-doppler - LAE, LVE and LVH shunt may be
  visualized by 2D echo/doppler.
• Cardiac MRI and CT also useful in identifying PDA

LAA- left atrial abnormality
43
Natural History/Management

• Complications include endocarditis, HF, PAH,
  PVOD, and sudden death.
• Ultimate goal - closure of the ductus.In
  premature infants treatment with Indomethacin is
  1st line therapy?constriction of ductus.
• Surgical or catheter closure are safe and
  effective when ductus remains open.

44
Coarctation of the Aorta

• 8-9 of all infants presenting with CHD.
• Discreet narrowing of the distal segment of the
  aortic arch, just distal to the origin of the
  subclavian artery.
• Coarctation causes obstruction to outflow to the
  lower half of the body. Principle cardiovascular
  abnormalities
• LVH due to pressure overload
• Arterial hypertension

45
Coarctation of the Aorta
Allreferhealth.com
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46
Abnormal Physiology (Coarct)

• Systolic and diastolic pressures above the
  coarctation are elevated below reduced.
• A secondary form of HTN
• Prominent collateral circulation to the lower
  body develops via the internal mammary and
  subcostal arteries (rib notching on CxR).

47
Clinical Manifestations

• 50 present as infants with HF. Concomitant VSD
  often present.
• In older children Sx include fatigue, dyspnea and
  claudication in legs while running.
• Hypertension in childhood is a red flag for
  secondary hypertension.
• Consider also Renal artery stenosis

48
Clinical Manifestations

• PE In older children and adults- differential
  blood pressure between arms and legs a measured
  difference gt 10mmHg systolic is diagnostic.
• Majority of patients will develop marked HTN to
  upper part of body -high renin HTN due to
  decreased perfusion of kidneys.
• Upper body well developed legs very thin.

49
Additional Findings

• CxR LV prominent HF-infants notching of
  inferior margins of ribs in adolesence.
• ECG LVH.
• Echo-doppler Suprasternal imaging may show the
  coarct LVH, LV dysfunction.
• Cardiac MRI and CT also useful for coarctation
• Cardiac cath Pressure differential across the
  coarct with angiographic visualization and any
  associated lesions defined.

50
Natural Hx and Progression

• 50 of infants will present with HF and respond
  well to medical treatment.
• Hypertension develops with age and often persists
  if surgical correction is performed after age 6.
  Significant coarcts, if uncorrected, result in
  premature death, often by age 50.
• Surgery Direct resection/repair if possible
  adequate collaterals crucial for safe repair- if
  absent, lower body paralysis can occur due to
  interrupted blood flow to spinal cord during
  surgery. Stenting via catheters is being
  investigated/used as an option.

51
Tetralogy of Fallot

• 8-10 of all congenital defects- complex lesion
• Biventricular origin of the Aorta
• Large VSD
• Obstruction to pulmonary blood flow
• RVH

52
Tetralogy of Fallot
Movie Something The Lord Made details the
first heart surgery done in the US for TOF.
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53
Sudden Cardiac Death in the Young

• Overall incidence low 600 cases/yr.
• Structural cardiac abnormalities in 90.
• 40 occur in children with surgically treated
  CHD.
• Majority of SD in the young presents as the 1st
  manifestation of cardiac disease in otherwise
  healthy appearing individuals.

54
Etiologies - SCD in the Young

• Myocarditis (unrecognized)
• Hypertrophic Cardiomyopathy
• Congenital Coronary Anomalies
• Coronary Artery Disease (CAD)
• Conduction system abnormalities- Brugada
  syndrome, others.
• Mitral Valve Prolapse- very rare
• Aortic dissection or rupture often associated
  with connective tissue abnormalities (Marfans
  syndrome), Marfanoid body habitus.

55
SCD in Competitive Athletes

• Extremely rare 25/yr. in USA
• Hypertrophic Cardiomyopathy most common cause in
  athletes lt35 yrs.
• Congenital coronary anomalies
• Aortic rupture associated with Marfans and other
  connective tissue diseases.
• CHD present in lt 10

56
Screening and Prevention

• Because myocarditis is often silent, and
  associated with common viruses, strenuous
  physical exertion and athletic competition should
  be avoided in individuals with symptomatic viral
  symptoms or who are febrile.
• Detailed histories must be obtained during sports
  physicals- family history of sudden death
  history of chest pain, dizzyness, syncope or
  dyspnea presence of any cardiac risk factors.

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• A thorough exam should include observation for
  connective tissue abnormalities, body habitus,
  pectus deformity, etc.
• Cardiac exam should include thorough evaluation
  of murmurs including provocative maneuvers.
• ECGs and Echocardiography/Doppler should be
  obtained when structural cardiac pathology is
  suspected. Could make a difference between life
  and death.