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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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LV

LARA

RV

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LV

LARA

RV

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LV

LARA

RV

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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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