Congenital Diseases

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Congenital Diseases

• Dr. Gerrard Uy

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Congenital Heart Disease

• 0.5-0.8 of live births
• incidence is higher in stillborns (3-4),
  abortuses (10-25), and premature infants (about
  2)
• diagnosis is established by 1 wk of age in 40-50
  of patients with congenital heart disease and by
  1 mo of age in 50-60

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Etiology

• Result of aberrant embryonic development of a
  normal structure or failure to progress beyond an
  early stage of embryonic or fetal development

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Pathophysiology

• The anatomic and physiologic changes in the heart
  and circulation due to any CHD are not static
• Progress from prenatal life to adulthood
• Consequences
• Pulmonary hypertension
• Erythrocytosis
• Pregnancy related complications
• Infective endocarditis

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Relative frequency of Major Congenital lesions

• Ventricular septal defect25-30
• Atrial septal defect (secundum)6-8
• Patent ductus arteriosus6-8
• Coarctation of aorta5-7
• Tetralogy of Fallot5-7
• Pulmonary valve stenosis5-7
• Aortic valve stenosis4-7

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Relative Frequency of Major Congenital lesions

• d-Transposition of great arteries3-5
• Hypoplastic left ventricle1-3
• Hypoplastic right ventricle1-3
• Truncus arteriosus1-2
• Total anomalous pulmonary venous return1-2
• Tricuspid atresia1-2
• Single ventricle1-2
• Double-outlet right ventricle1-2 Others5-10

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Fetal circulation
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Congenital Disease

• Most congenital defects are well tolerated in the
  fetus because of the parallel nature of the fetal
  circulation
• only after birth when the fetal pathways (ductus
  arteriosus and foramen ovale) are closed that the
  full hemodynamic impact of an anatomic
  abnormality becomes apparent

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Etiology

• Cause is unknown
• There is progress in identifying genetic basis of
  many congenital heart lesions
• small percentage - related to chromosomal
  abnormalities, in particular, trisomy 21, 13, and
  18 and Turner syndrome
• 2-4 -associated with known environmental or
  adverse maternal conditions and teratogenic
  influences, including maternal diabetes mellitus,
  phenylketonuria, or systemic lupus erythematosus

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• diabetic mothers are five times more likely to
  have congenital cardiovascular malformations
• most congenital heart disease is still relegated
  to a multifactorial inheritance pattern
• Fetal echocardiography improves the rate of
  detection

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2 major groups

1. Acyanotic Congenital heart lesions
2. Cyanotic Congenital heart lesions

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Acyanotic Congenital heart lesions

• Increased volume load
• ASD (atrial septal defect)
• VSD (ventricular septal defect)
• AV septal defects
• PDA (patent ductus arteriosus)
• Increased pressure load
• valvular pulmonic stenosis
• valvular aortic stenosis
• coarctation of the aorta

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Cyanotic Congenital heart lesions

• Decreased Pulmonary Blood Flow - obstruction to
  pulmonary blood flow and a pathway by which
  systemic venous blood can shunt from right to
  left and enter the systemic circulation
• tricuspid atresia
• Tetralogy of Fallot
• single ventricle with pulmonary stenosis
• Increased Pulmonary Blood flow
• Transposition of the great vessels
• Total anomalous pulmonary venous return
• Truncus arteriosus

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PDA (patent ductus arteriosus)
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Pathophysiology

• blood shunts left to right through the ductus
• from the aorta to the pulmonary artery
• pulmonary artery pressure may be elevated to
  systemic levels during both systole and diastole
• risk for the development of pulmonary vascular
  disease if left unoperated

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Manifestations

• small patent ductus does not usually have any
  symptoms
• large PDA will result in heart failure
• Cardiac enlargement
• Classic continuous murmur (machinery-like)

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Diagnosis

• ECG
• Left ventricular hypertrophy
• Xray
• prominent pulmonary artery with increased
  intrapulmonary vascular markings
• 2D echocardiography
• left atrial and left ventricular dimensions are
  increased
• Visualization of the patent ductus

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Treatment

• Irrespective of age, patients with PDA require
  surgical or catheter closure
• should not be unduly postponed after adequate
  medical therapy for cardiac failure has been
  instituted
• thoracoscopic techniques to minimize scarring and
  reduce postoperative discomfort

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Atrial Septal Defect
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Atrial Septal Defect

• Occurs more frequently in females
• 3 types
• Sinus venosus near the entry of the superior
  vena cava into the right atrium
• Ostium primum lie adjacent to the
  atrioventricular valves, common in Downs
  syndrome
• Ostium secundum most common and involves the
  fossa ovalis

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Ventricular Septal Defect
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Ventricular Septal Defect

• Opening is usually single
• Situated in the membranous portion of the septum
• Spontaneous closure is more common in patients
  born with a small VSD
• Operative correction or transcatheter closure is
  indicated when there is moderate to large left to
  right shunt

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Acyanotic CHD without a shunt

• Valvular aortic stenosis
• More common in males than in females
• One of the most common congenital malformations
  of the heart

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Coarctation of the Aorta
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Acyanotic CHD without a shunt Coarctaion of the
Aorta

• Coarctation of the Aorta
• May occur anywhere but is most common distal to
  the origin of the left subclavian artery
• Occurs in 7 of patients with CHD
• More common in males
• Frequent in patients with Turners syndrome
• 10 have circle of willis aneurysms
• Manifestations
• Epistaxis, headahce, cold extremities, and
  claudication
• Hypertension in the upper extremities
• Absence or delayed pulsations in the femoral
  arteries

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Cyanotic CHD Tetralogy of Fallot
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Tetralogy of Fallot

• 4 components
• Malaligned ventricular septal defect
• Obstruction to RV outflow
• Aortic override of the VSD
• RV hypertrophy
• ECG shows RV hypertrophy
• CXR shows boot shaped heart (coeur en sabot)

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Cyanotic CHD- Transposition of the Great Arteries
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Transposition of the Great Arteries

• Commonly called dextro- or D-transposition of the
  great arteries
• The aorta arises rightward anteriorly from the
  right ventricle and the pulmonary artery from the
  left ventricle
• More common in males
• Accounts for 10 of cyanotic CHD

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Other Cyanotic Congenital Heart Disease

• Single Ventricle
• Tricuspid Atresia
• Characterized by atresia of the tricuspid valve,
  interatrial communication and hypoplasia of the
  right ventricle and pulmonary artery
• Ebstein Anomaly
• Characterized by downward displacement of the
  tricuspid valve into the right ventricle