pathological physiology of cardiovascular system ...patfyz.medic.upjs.sk/estudmat/kvs3en.pdf ·...
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Pathological physiology of cardiovascular system
Congenital heart diseases
Rácz Oliver, Sedláková EvaInstitute of Pathological Physiology,
Medical School, P.J. Šafárik University
© Oliver Rácz, Eva Sedláková 2011 - 2018
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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 ≈ 10 000 people
*foramen ovale is not closedin 25 % of healthy people –without consequences
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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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Classification
1. Defects with shunts (left to right, latecyanosis)
� defects of atrial or ventricular septum, ductus Botalli apertus (ASD, VSD, DBA)
2. Combined – Fallot’s tetralogy and others
There are congenital and (mostly NOT) hereditary conditions
But there are also hereditary heart pathologies:Some arrhytmiasHypertrophic and dilated cardiomyopathies
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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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Embryologicaldevelopment &intrauterine circulation
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Embryological development & intrauterine circulation
Both ventricles pump blood into systemic circulationForamen ovaleDuctus arteriosus
Oxygen through placenta and vena umbilicalis
W. Harvey, 1578 - 1657
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Embryological development & intrauterine circulation
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Foramenovalepersistens
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Rubella and not only the heart
Togaviridiaes, Rubivirus0,6 % of exposed women develop abnormalities1st trimester infections lead to fetal damage. Delayed growth of tissues and Immune disturbances
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Rubella and not only the heart
Congenital defectsSensorineural deafnessCongenital heart defectsCataract, choroidoretinitisGrowth retardationMicrocephaly, mental retardationUrogenital abnormalities
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Rubella and not only the heart
Transient abnormalitiesThrombocytopenic purpuraBone lesionsPneumonitisHepatosplenomegaly
Late consequences ????Diabetes mellitusThyroid dysfunctionAutismPanencephalitis
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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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Incidency (106 births), 2002Malformation 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 5
AV defect 396 4
Aortic stenosis 388 4
Complete transposition 388 4
Other 374 3
Ebstein: 1/20 000 or 0,5 % of cong. Heart defects
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Etiology of congenital heart defects congenital or genetic?
HereditaryHolt-Oram sy. = ASD, disturbances of upper extremity development ?! – thalidomid ?!� Gene for a transcriptional factor, TBX5
Mutation of another transcription factor NKX2-5� Heterozygotes: ASD, risk of sudden death� Homozygote drosophila = tinman, no heart
Similar effects as the thalidomid!!!
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Atrial septum defectNot ! The most common, but 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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LV
LARA
RV
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LV
LARA
RV
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Ventricular septum defect
80 % p. membranacea
15 % p. muscularis (m. Roger – smallhole, strong murmur)
pulmonary circulation overload, pulmonary hypertension
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25 - 40 % of congenital heart malformations25 % died before age 20 years but 66% live up to 60Most small defects close spontaneously before age 10
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LV
LARA
RVS
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Open ductus Botalli
Closing in full-term newborns in 24 hDBA often in premature newbornsPulmonary circulation overloadBig shunt can cause heart failureRisk of bacterialendocarditis
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LV
LARA
RV
S
D
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Eisenmenger syndrome
ASD, VSD, DBA with pulmonaryhypertension and right to left shunt
Cyanosis, polyglobuliaDyspnoe, fatigue, syncopa, oedemaToo late for surgery
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Fallot tetralogy
Pulmonary stenosissubaortal VSDriddling aortaright 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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Transposition of aorta/a. pulmonalis
Two parallel circulations!
RV – aorta – systemic circulation – v. cava – RA
Deoxygenated blood
LV – a. pulmonalis –pulmonary circulation – vv. pulmonales – LA
Oxygenated blood
Limited life due to shunts
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Transposition of aorta/a. pulmonalis
Two parallel circulations!
Solution:
Exchange the venous parts, too!
Complete transposition but one circulation
RV – system – LA – LV –lungs – RA…
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Correction – „transtransposition“
10 year survival is good
Later problems
Physical exercise
Failure of the systemicright ventricle
Late coplications, arrythmias.
SK – 80-100 young people
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LV
LARA
RV
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Nezlučiteľná so životom20-20/100 000SK – 15 ročneSenning, 1959Mustard, 1964Prekríženie predsiení!Kaldarová a spol., Kardiológia pre prax 2008, 6, 219 – 223Detské kardiocentrum, BA
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Ebstein
„Endocardial cushion defects“Important for the development of AV region, lower part of atrial and upper part of ventricular septumAbnormal developent is responsible for cca 5% of congenital heart defects, in m. Down even in 50 % - some ASD, VSD, valvular abnormalitiesEbstein – abnormal tricuspidal valve deep in the ventricle
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Ebstein
Ebstein – abnormal tricuspidal valve deep in the ventricleAtrialisation of the right ventricle, but contraction together with the other parts of the ventricleRegurgitation, worsened by the contraction of the ventricular partOften combined with WPW syndrome, ASD
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