1. Pathological physiology of cardiovascular system 3
Pathological physiology of cardiovascular system 3. Congenital heart diseases
Rácz Oliver, Sedláková Eva
Institute of Pathological Physiology,
Medical School, P.J. Šafárik University
© Oliver Rácz 2011
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2. Occurence & clinical significance of congenital heart defects
0,6 – 0,7 % live births (» 300/year)
Prenatal and/or very early diagnostics
Early or postponed surgical intervention
Two thirds live up to adult age (sometimes with residual abnormalities)
Sometimes (ASD) discovered in adult age*
In Slovakia » people
*foramen ovale is not closed in 25 % of healthy people – without consequences
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3. Classification (Cyanotic & noncyanotic)
Defects with shunts (left to right, late cyanosis)
defects of atrial or ventricular septum, ductus Botalli apertus (ASD, VSD, DBA)
Defects with stenoses
aortal & pulmonal stenosis, coarctation of aorta
Defects with dyslocation
dextrocardia, transposition big vessels
Combined – Fallot’s tetralogy and others
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4. Classification Defects with shunts (left to right, late cyanosis)
defects of atrial or ventricular septum, ductus Botalli apertus (ASD, VSD, DBA)
Combined – Fallot’s tetralogy and others
There are congenital and (mostly NOT) hereditary conditions
But there are also hereditary heart pathologies:
Some arrhytmias
Hypertrophic and dilated cardiomyopathies
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5. Embryological development of the heart and the intrauterine circulation
4th week: 5 segments of the embryonal tube:
sinus venosus, common atrium, common ventricle, bulbus cordis and truncus arteriosus
5th – 8th week: septum formation between the left and right side, valves, endocardium – a very sensitive period of time
...
Through pulmonary circulation only 5 % of blood
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6. Embryological development & intrauterine circulation
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7. Embryological development & intrauterine circulation
Both ventricles pump blood into systemic circulation
Foramen ovale
Ductus arteriosus
Oxygen through placenta and vena umbilicalis
W. Harvey,
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8. Embryological development & intrauterine circulation
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9. Foramen ovale persistens
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10. Rubella and not only the heart
Togaviridiaes, Rubivirus
0,6 % of exposed women develop abnormalities
1st trimester infections lead to fetal damage.
Delayed growth of tissues and Immune disturbances
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11. Rubella and not only the heart
Congenital defects
Sensorineural deafness
Congenital heart defects
Cataract, choroidoretinitis
Growth retardation
Microcephaly, mental retardation
Urogenital abnormalities
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12. Rubella and not only the heart
Transient abnormalities
Thrombocytopenic purpura
Bone lesions
Pneumonitis
Hepatosplenomegaly
Late consequences ????
Diabetes mellitus
Thyroid dysfunction
Autism
Panencephalitis
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13. Etiology of congenital heart defects
Viral infection in 5th – 8th gestational week (rubella and other).
Chemical: alcohol, smoking, immunosuppresive drugs, thalidomid, antimetabolites and other.
Hereditary (also – arrythmias, cardiomyopathies, valvular malformatioms)
As a part of chromosomal aberrations and hereditary diseases
m. Down, sy. Turner, Marfan etc.
It is theory – the cause is clear only in 10% cases
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14. Incidency (106 births), 2002 Malformation Incidence %
Ventricular septum defect
4482 42
Atrial septum defect
1043 10
Pulmonal stenosis
836 8
Ductus Botalli
781 7
Fallot tetralogy
577 5
Coarctation of aorta
492
AV defect
396 4
Aortic stenosis
388
Complete transposition
Other
374 3
Ebstein: 1/ or 0,5 % of cong. Heart defects
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15. Atrial septum defect Most common, women > men
2 basic types with left to right shunt
ostium secundum
ostium primum (+ abnormalities of AV valves)
and abnormal position of pulmonary venes
Increased blood flow through pulmonary circulation, later pulmonary hypertension
Dg sometimes in adult life – dyspnoe, fatigue, supraventricular tachyarrhytmias
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16. RA LA RV LV
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17. RA LA RV LV
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18.
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19. Ventricular septum defect
80 % p. membranacea
15 % p. muscularis (m. Roger – small hole, strong murmur)
pulmonary circulation overload, pulmonary hypertension
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20. 25 % of congenital heart malformations
25 % died before age 20 years but 66% live up to 60
Most small defects close spontaneously before age 10
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21. RA LA RV LV S
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22.
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23. Open ductus Botalli Closing in full-term newborns in 24 h
DBA often in premature newborns
Pulmonary circulation overload
Big shunt can cause heart failure
Risk of bacterial endocarditis
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24. RA LA RV LV S D
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25. Fallot tetralogy Pulmonary stenosis subaortal VSD riddling aorta
right ventricular hypertrophy
strong cyanosis, hypoxia
growth retardation
Ht, Hb, Er – high, high blood viscosity
Blalock and Taussig and the lesson from Fallot pentalogy
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26.
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