kvs3e12.ppt 1 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

kvs3e12.ppt 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

kvs3e12.ppt Classification  (Cyanotic & noncyanotic) Defects with shunts (left to right, late cyanosis) Defects with shunts (left to right, late cyanosis)  defects of atrial or ventricular septum, ductus Botalli apertus (ASD, VSD, DBA) Defects with stenoses Defects with stenoses  aortal & pulmonal stenosis, coarctation of aorta Defects with dyslocation Defects with dyslocation  dextrocardia, transposition big vessels Combined – Fallot’s tetralogy and others Combined – Fallot’s tetralogy and others

kvs3e12.ppt Classification 1.Defects with shunts (left to right, late cyanosis)  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 arrhytmias Hypertrophic and dilated cardiomyopathies

kvs3e12.ppt 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 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

kvs3e12.ppt Embryological development & intrauterine circulation

kvs3e12.ppt Embryological development & intrauterine circulation Both ventricles pump blood into systemic circulation Foramen ovale Ductus arteriosus Oxygen through placenta and vena umbilicalis W. Harvey,

kvs3e12.ppt Embryological development & intrauterine circulation

kvs3e12.ppt Foramen ovale persistens

kvs3e12.ppt 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

kvs3e12.ppt Rubella and not only the heart Congenital defects Sensorineural deafness Congenital heart defects Cataract, choroidoretinitis Growth retardation Microcephaly, mental retardation Urogenital abnormalities

kvs3e12.ppt Rubella and not only the heart Transient abnormalities Thrombocytopenic purpura Bone lesions PneumonitisHepatosplenomegaly Late consequences ???? Diabetes mellitus Thyroid dysfunction AutismPanencephalitis

kvs3e12.ppt 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

kvs3e12.ppt Incidency (10 6 births), 2002 MalformationIncidence% Ventricular septum defect Atrial septum defect Pulmonal stenosis 8368 Ductus Botalli 7817 Fallot tetralogy 5775 Coarctation of aorta 4925 AV defect 3964 Aortic stenosis 3884 Complete transposition 3884 Other3743 Ebstein: 1/ or 0,5 % of cong. Heart defects

kvs3e12.ppt Etiology of congenital heart defects congenital or genetic? Hereditary Holt-Oram sy. = ASD, disturbances of upper extremity development ?! – thalidomid ?! Gene for a transcriptional factor, TBX5 Gene for a transcriptional factor, TBX5 Mutation of another transcription factor NKX2-5 Heterozygotes: ASD, risk of sudden death Heterozygotes: ASD, risk of sudden death Homozygote drosophila = tinman, no heart Homozygote drosophila = tinman, no heart

kvs3e12.ppt Atrial septum defect Not ! The most common, women > men 2 basic types with left to right shunt ostium secundum ostium secundum ostium primum (+ abnormalities of AV valves) ostium primum (+ abnormalities of AV valves) and abnormal position of pulmonary venes and abnormal position of pulmonary venes Increased blood flow through pulmonary circulation, later pulmonary hypertension Dg sometimes in adult life – dyspnoe, fatigue, supraventricular tachyarrhytmias

kvs3e12.ppt LV LARA RV

kvs3e12.ppt LV LARA RV

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kvs3e12.ppt Ventricular septum defect 80 % p. membranacea 15 % p. muscularis (m. Roger – small hole, strong murmur) pulmonary circulation overload, pulmonary hypertension

kvs3e12.ppt 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

kvs3e12.ppt LV LARA RV S

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kvs3e12.ppt 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

kvs3e12.ppt LV LARA RV S D

kvs3e12.ppt Eisenmenger syndrome ASD, VSD, DBA with pulmonary hypertension and right to left shunt Cyanosis, polyglobulia Dyspnoe, fatigue, syncopa, oedema Too late for surgery

kvs3e12.ppt 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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kvs3e12.ppt 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

kvs3e12.ppt 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…

kvs3e12.ppt LV LARA RV

kvs3e12.ppt LV LARA RV

kvs3e12.ppt LV LARA RV

kvs3e12.ppt Correction – „transtransposition“ 10 year survival is good Later problems Physical exercise Failure of the systemic right ventricle Late coplications, arrythmias. SK – young people

kvs3e12.ppt LV LARA RV

kvs3e12.ppt Nezlučiteľná so životom 20-20/ SK – 15 ročne Senning, 1959 Mustard, 1964 Prekríženie predsiení! Kaldarová a spol., Kardiológia pre prax 2008, 6, 219 – 223 Detské kardiocentrum, BA

kvs3e12.ppt Ebstein „Endocardial cushion defects“ Important for the development of AV region, lower part of atrial and upper part of ventricular septum Abnormal developent is responsible for cca 5% of congenital heart defects, in m. Down even in 50 % - some ASD, VSD, valvular abnormalities Ebstein – abnormal tricuspidal valve deep in the ventricle

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kvs3e12.ppt Ebstein Ebstein – abnormal tricuspidal valve deep in the ventricle Atrialisation of the right ventricle, but contraction together with the other parts of the ventricle Regurgitation, worsened by the contraction of the ventricular part Often combined with WPW syndrome, ASD

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