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PathologicalPathological phphyyssioliolooggyy of of ccardiovasardiovasccululaar systr systeemm

3. 3. Congenital heart diseasesCongenital heart diseases

Rácz Oliver, Sedláková EvaRácz Oliver, Sedláková Eva

Institute of Pathological Physiology,Institute of Pathological Physiology,

Medical School,Medical School, P.J. Šafárik P.J. Šafárik University University

© Oliver Rácz 2011

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Occurence & clinical significance of Occurence & clinical significance of congenital heart defectscongenital heart defects

0,6 – 0,7 % live births0,6 – 0,7 % live births ( ( 300300/year)/year)

PrenatPrenataal al andnd/o/or very early r very early diagnostidiagnosticscs

Early or postponed surgical interventionEarly or postponed surgical intervention

Two thirds live up toTwo thirds live up to aaddult ageult age ( (sometimes sometimes with with reressiduiduaal abnormalitl abnormalitiesies))

Sometimes (ASD) discovered in adult age*Sometimes (ASD) discovered in adult age*

In Slovakia In Slovakia 10 000 10 000 peoplepeople

*foramen ovale is not closed in 25 % of healthy people – without consequences

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ClassificationClassification

(Cyanotic (Cyanotic && n nononcyanotic)cyanotic)Defects with shuntsDefects with shunts ( (left to right, lateleft to right, late

cyancyanosisosis)) defedefecctts of atrial or ventricular septum, s of atrial or ventricular septum, ductus ductus

BotalliBotalli apertus apertus (ASD, VSD, DBA) (ASD, VSD, DBA)Defects with stenosesDefects with stenoses

aortaortaal l & & pulmon pulmonaal stenl stenosisosis, , ccoaroarccttatatiion ofon of aort aortaaDefects with dyslocationDefects with dyslocation

ddextroextroccardia, transpoardia, transpositionsition big vesselsbig vesselsCCombinombineded – Fallot – Fallot’s’s tetral tetralooggyy and othersand others

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ClassificationClassification

1.1. Defects with shuntsDefects with shunts ( (left to right, lateleft to right, late cyancyanosisosis))

defedefecctts of atrial or ventricular septum, s of atrial or ventricular septum, ductus ductus BotalliBotalli apertus apertus (ASD, VSD, DBA) (ASD, VSD, DBA)

2.2. CCombinombineded – Fallot – Fallot’s’s tetral tetralooggyy and othersand others

There are congenital and There are congenital and ((mostly NOTmostly NOT) ) hereditary conditionshereditary conditions

But there are also hereditary heart pathologies:But there are also hereditary heart pathologies:Some arrhytmiasSome arrhytmiasHypertrophic and dilated cardiomyopathiesHypertrophic and dilated cardiomyopathies

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EmbryologicEmbryologicalal development of the development of the heart and the heart and the intrauterinintrauterine circulatione circulation

44th weekth week: 5 segment: 5 segments of the embryonal tubes of the embryonal tube:: sinus venosus, sinus venosus, common atriumcommon atrium, , commoncommon ventricleventricle, ,

bulbus cordis abulbus cordis andnd truncus arteriosus truncus arteriosus

55thth – 8 – 8thth weekweek: sept: septum formation between um formation between the left and right side, valves, endocardiumthe left and right side, valves, endocardium – – a very sensitive period of timea very sensitive period of time......Through pulmonary Through pulmonary circirccululation onlyation only 5 % 5 % of of bloodblood

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Embryological development & intrauterine circulation

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Embryological development & intrauterine circulation

Both ventricles pump Both ventricles pump blood into systemic blood into systemic circulationcirculation

Foramen ovaleForamen ovale

Ductus arteriosusDuctus arteriosus

Oxygen through Oxygen through placenta and vena placenta and vena umbilicalisumbilicalis

W. Harvey, 1578 - 1657W. Harvey, 1578 - 1657

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Embryological development & intrauterine circulation

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ForamenForamenovaleovalepersistenspersistens

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Rubella and not only the heartRubella and not only the heart

Togaviridiaes, RubivirusTogaviridiaes, Rubivirus

0,6 % of exposed women0,6 % of exposed women develop develop abnormalitiesabnormalities

1st trimester infections lead to fetal 1st trimester infections lead to fetal damage. damage.

Delayed growth of tissuesDelayed growth of tissues and and Immune Immune disturbancesdisturbances

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Rubella and not only the heartRubella and not only the heart

Congenital defectsCongenital defects

Sensorineural deafnessSensorineural deafness

Congenital heart defectsCongenital heart defects

Cataract, choroidoretinitisCataract, choroidoretinitis

Growth retardationGrowth retardation

Microcephaly, mental retardationMicrocephaly, mental retardation

Urogenital abnormalitiesUrogenital abnormalities

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Rubella and not only the heartRubella and not only the heart

Transient abnormalitiesTransient abnormalitiesThrombocytopenic purpuraThrombocytopenic purpuraBone lesionsBone lesionsPneumonitisPneumonitisHepatosplenomegalyHepatosplenomegaly

Late consequences ?Late consequences ???????Diabetes mellitusDiabetes mellitusThyroid dysfunctionThyroid dysfunctionAutismAutismPanencephalitisPanencephalitis

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EtiolEtiolooggyy of congenital heart defectsof congenital heart defects

VirViral infectional infection inin 5 5thth – 8 – 8thth gestational weekgestational week (rube(rubellla ala and other).nd other).ChemicChemicalal: al: alccohol, smoking, ohol, smoking, imimmmunosupunosupppresresive ive drugsdrugs,, thalidomid, antimetabolit thalidomid, antimetaboliteses a and other.nd other.HereditaryHereditary ( (alsoalso – ar – arrrytythhmimiasas, , ccardiomyopatardiomyopathhieiess, , valvular malformatiomsvalvular malformatioms))As a part of As a part of chromochromososommalal aber aberrations and rations and hereditary diseaseshereditary diseases

m. Down, sy. Turner, Marfan m. Down, sy. Turner, Marfan etcetc..

It isIt is t thheeoryory – – the cause is clear only inthe cause is clear only in 10% 10% casescases

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IncidencIncidencyy ( (101066 births births), 2002), 2002MalformationMalformation IncidenceIncidence %%

VentricularVentricular sept septum defectum defect 44824482 4242

Atrial septum dAtrial septum defeefecctt 10431043 1010

PulmonPulmonaal stenl stenosisosis 836836 88

Ductus BotalliDuctus Botalli 781781 77

Fallot tetralFallot tetralogyogy 577577 55

CCoaroarccttation ofation of aort aortaa 492492 55

AV defeAV defecctt 396396 44

AortAorticic sten stenosisosis 388388 44

Complete tComplete transporanspositionsition 388388 44

OtherOther 374374 33

Ebstein: 1/20 000 or 0,5 % of cong. Heart defects

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EtiolEtiolooggyy of congenital heart defects of congenital heart defects congenital or genetic?congenital or genetic?

HereditaryHereditaryHolt-Oram sy. = ASD, Holt-Oram sy. = ASD, distdistuurbances of upper rbances of upper extremity development ?! – extremity development ?! – thalidomid ?!thalidomid ?! GGeenne for ae for a trans transccripriptionaltional fa facctor, TBX5tor, TBX5

MutMutation of anotheration of another trans transccripriptitioonn fa facctortor NKX2-5NKX2-5 HeterozygotHeterozygoteses: ASD, ri: ASD, risksk of sudden deathof sudden death HomozygotHomozygotee dro drossoophilaphila = tinman, = tinman, no heartno heart

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Atrial septum defectAtrial septum defectNot ! The mNot ! The most common, womenost common, women > men> men

2 2 basicbasic typ typeses with left to right shuntwith left to right shunt ostium secundumostium secundum ostium primum ostium primum (+ abnormalities of AV valves(+ abnormalities of AV valves) ) and and abnormabnormaal l position ofposition of p pulmonary venesulmonary venes

Increased blood flow through pulmonary Increased blood flow through pulmonary circulation, later circulation, later ppulmoulmonanaryry hyperten hypertensionsion

Dg sometimes in adult life Dg sometimes in adult life – dyspnoe, – dyspnoe, fatiguefatigue, , supraventrisupraventriccululaar tachyarr tachyarrhrhytmiytmiasas

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LV

LARA

RV

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LV

LARA

RV

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Ventricular Ventricular septseptum defectum defect

80 % p. 80 % p. membranaceamembranacea

15 % p. muscularis 15 % p. muscularis (m. Roger – (m. Roger – smallsmall holehole, , strongstrong murmurmurmur))

pulmonary circulation pulmonary circulation overload, pulmonary overload, pulmonary hypertensionhypertension

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25 25 %% of cof congenitongenitaall heart heart malform malformatatiionsons25 25 %% died before agedied before age 20 20 yeayearrs but 66% live up tos but 66% live up to 60 60Most smallMost small defe defects close spontaneously before age 10cts close spontaneously before age 10

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LV

LARA

RVS

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OOpenpen ductus Botalli ductus Botalli

Closing in full-term Closing in full-term newbornsnewborns iin 24n 24 hhDBA often in DBA often in premature newbornspremature newbornsPPulmonary circulation ulmonary circulation overloadoverload Big shunt can cause Big shunt can cause heart failureheart failureRiRisskk ooff bacterialbacterial endoendoccarditarditisis

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LV

LARA

RV

S

D

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Eisenmenger syndrEisenmenger syndroommee

ASD, VSD, DBA ASD, VSD, DBA withwith p pulmonaryulmonary hypertenhypertension and sion and right to left shuntright to left shunt

CyanCyanosis, polyglobuliaosis, polyglobulia

Dyspnoe, Dyspnoe, fatiguefatigue, syn, syncopacopa, , ooededeemmaa

Too late for surgeryToo late for surgery

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Fallot tetralFallot tetralooggyy

PulmonPulmonaryary sten stenosisosissubaortsubaortaal VSDl VSDriddlingriddling aorta aortaright ventricular right ventricular hypertrohypertrophyphy

strong strong cyancyanosis,osis, hypoxiahypoxia

growth retardationgrowth retardation Ht, Hb, Er – Ht, Hb, Er – high, high high, high

blood viscosityblood viscosity

Blalock and Taussig and the lesson from Fallot pentalogy

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TranspoTranspositionsition of aorta/a. of aorta/a. pulmonalispulmonalis

Two pTwo paralaralllel el circulationscirculations!!

RV – RV – aorta – systemic aorta – systemic circulation –circulation – v. cava – RA v. cava – RA

Deoxygenated bloodDeoxygenated blood

LV – LV – a. pulmonalis – a. pulmonalis – pulmonary circulation pulmonary circulation – – vv. pulmonales – LAvv. pulmonales – LA

Oxygenated bloodOxygenated blood

Limited life due to shuntsLimited life due to shunts

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TranspoTranspositionsition of aorta/a. of aorta/a. pulmonalispulmonalis

Two pTwo paralaralllel el circulationscirculations!!

Solution:Solution:

Exchange the venous partsExchange the venous parts, , too!too!

Complete transposition but Complete transposition but one circulationone circulation

RV – system – LA – LV –RV – system – LA – LV –lungs – RA… lungs – RA…

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LV

LARA

RV

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LV

LARA

RV

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LV

LARA

RV

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Correction – „transtransposition“Correction – „transtransposition“

10 10 year survival is goodyear survival is good

Later problemsLater problems

PPhysical exercisehysical exercise

Failure of the Failure of the systsysteemmicic right ventricleright ventricle

Late coLate copliplicationscations, , ararrrytythhmimiasas..

SK – 80-100 SK – 80-100 young young peoplepeople

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LV

LARA

RV

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Nezlučiteľná so životomNezlučiteľná so životom20-20/100 00020-20/100 000SK – 15 ročneSK – 15 ročneSenning, 1959Senning, 1959Mustard, 1964Mustard, 1964Prekríženie Prekríženie predsiení!predsiení!Kaldarová a spol., Kaldarová a spol., Kardiológia pre prax Kardiológia pre prax 2008, 6, 219 – 2232008, 6, 219 – 223Detské kardiocentrum, Detské kardiocentrum, BABA

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Ebstein Ebstein

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

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Ebstein Ebstein

EbsteinEbstein – abnormal tricuspidal valve – abnormal tricuspidal valve deep in the ventricledeep in the ventricleAtrialisation of the right ventricle, but Atrialisation of the right ventricle, but contraction together with the other parts of contraction together with the other parts of the ventriclethe ventricleRegurgitation, worsened by the Regurgitation, worsened by the contraction of the ventricular partcontraction of the ventricular partOften combined with WPW syndrome, Often combined with WPW syndrome, ASDASD

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