Pathological physiology of cardiovascular system Congenital heart diseases

Transcription

1 Pathological physiology of cardiovascular system Congenital heart diseases Rácz Oliver, Sedláková Eva Institute of Pathological Physiology, Medical School, P.J. Šafárik University Oliver Rácz, Eva Sedláková 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 2 without consequences 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 3 1

2 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 4 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 5 Embryological development & intrauterine circulation 6 2

3 Embryological development & intrauterine circulation Both ventricles pump blood into systemic circulation Foramen ovale Ductus arteriosus Oxygen through placenta and vena umbilicalis W. Harvey, Embryological development & intrauterine circulation 8 Foramen ovale persistens 9 3

4 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 10 Rubella and not only the heart Congenital defects Sensorineural deafness Congenital heart defects Cataract, choroidoretinitis Growth retardation Microcephaly, mental retardation Urogenital abnormalities 11 Rubella and not only the heart Transient abnormalities Thrombocytopenic purpura Bone lesions Pneumonitis Hepatosplenomegaly Late consequences???? Diabetes mellitus Thyroid dysfunction Autism Panencephalitis 12 4

5 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 13 Incidency (10 6 births), 2002 Malformation Incidence % Ventricular septum defect Atrial septum defect Pulmonal stenosis Ductus Botalli Fallot tetralogy Coarctation of aorta AV defect Aortic stenosis Complete transposition Other Ebstein: 1/ or 0,5 % of cong. Heart defects 14 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 Mutation of another transcription factor NKX2-5 Heterozygotes: ASD, risk of sudden death Homozygote drosophila = tinman, no heart Similar effects as the thalidomid!!! 15 5

6 Atrial septum defect Not! 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 16 RA 17 RA 18 6

7 19 Ventricular septum defect 80 % p. membranacea 15 % p. muscularis (m. Roger small hole, strong murmur) pulmonary circulation overload, pulmonary hypertension % of congenital heart malformations 25 % died before age 20 years but 66% live up to 60 Most small defects close spontaneously before age

8 RA S 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 Open ductus Botalli 24 8

9 RA S D 25 Eisenmenger syndrome ASD, VSD, DBA with pulmonary hypertension and right to left shunt Cyanosis, polyglobulia Dyspnoe, fatigue, syncopa, oedema Too late for surgery 26 Pulmonary stenosis subaortal VSD riddling aorta right ventricular hypertrophy strong cyanosis, hypoxia growth retardation Ht, Hb, Er high, high blood viscosity Fallot tetralogy Blalock and Taussig and the lesson from Fallot pentalogy 27 9

10 28 Transposition of aorta/a. pulmonalis Two parallel circulations! aorta systemic circulation v. cava RA Deoxygenated blood a. pulmonalis pulmonary circulation vv. pulmonales Oxygenated blood Limited life due to shunts 29 Transposition of aorta/a. pulmonalis Two parallel circulations! Solution: Exchange the venous parts, too! Complete transposition but one circulation system lungs RA 30 10

11 RA 31 RA 32 RA 33 11

12 Correction transtransposition 10 year survival is good Later problems Physical exercise Failure of the systemic right ventricle Late coplications, arrythmias. SK young people 34 RA 35 Nezlučiteľná so životom 20-20/ SK 15 ročne Senning, 1959 Mustard, 1964 Prekríženie predsiení! Kaldarová a spol., Kardiológia pre prax 2008, 6, Detské kardiocentrum, BA 36 12

13 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 37 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