Download pulmonary circulation

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 2011 - 2017
16.2.2017
kvs1703e
1
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
16.2.2017
kvs1703e
*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
16.2.2017
kvs1703e
3
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
16.2.2017
kvs1703e
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
16.2.2017
kvs1703e
5
Embryological
development &
intrauterine circulation
16.2.2017
kvs1703e
6
Embryological development & intrauterine
circulation
Both ventricles pump
blood into systemic
circulation
Foramen ovale
Ductus arteriosus
Oxygen through
placenta and vena
umbilicalis
W. Harvey, 1578 - 1657
16.2.2017
kvs1703e
7
Embryological development & intrauterine
circulation
16.2.2017
kvs1703e
8
Foramen
ovale
persistens
16.2.2017
kvs1703e
9
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
16.2.2017
kvs1703e
10
Rubella and not only the heart
Congenital defects
Sensorineural deafness
Congenital heart defects
Cataract, choroidoretinitis
Growth retardation
Microcephaly, mental retardation
Urogenital abnormalities
16.2.2017
kvs1703e
11
Rubella and not only the heart
Transient abnormalities
Thrombocytopenic purpura
Bone lesions
Pneumonitis
Hepatosplenomegaly
Late consequences ????
Diabetes mellitus
Thyroid dysfunction
Autism
Panencephalitis
16.2.2017
kvs1703e
12
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
16.2.2017
kvs1703e
13
Incidency (106 births), 2002
Malformation
Ventricular septum defect
Atrial septum defect
Incidence
4482
1043
%
42
10
Pulmonal stenosis
Ductus Botalli
Fallot tetralogy
836
781
577
8
7
5
Coarctation of aorta
AV defect
Aortic stenosis
Complete transposition
492
396
388
388
5
4
4
4
Other
374
3
Ebstein: 1/20 000 or 0,5 % of cong. Heart defects
16.2.2017
kvs1703e
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!!!
16.2.2017
kvs1703e
15
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
16.2.2017
kvs1703e
16
16.2.2017
RA
LA
RV
LV
kvs1703e
17
16.2.2017
RA
LA
RV
LV
kvs1703e
18
16.2.2017
kvs1703e
19
Ventricular septum defect
80 % p.
membranacea
15 % p. muscularis
(m. Roger – small
hole, strong murmur)
pulmonary circulation
overload, pulmonary
hypertension
16.2.2017
kvs1703e
20
25 - 40 % of congenital heart malformations
25 % died before age 20 years but 66% live up to 60
Most small defects close spontaneously before age 10
16.2.2017
kvs1703e
21
RA
RV
16.2.2017
LA
S
kvs1703e
LV
22
16.2.2017
kvs1703e
23
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
16.2.2017
kvs1703e
24
RA
LA
RV
LV
S
D
16.2.2017
kvs1703e
25
Eisenmenger syndrome
ASD, VSD, DBA with pulmonary
hypertension and right to left shunt
Cyanosis, polyglobulia
Dyspnoe, fatigue, syncopa, oedema
Too late for surgery
16.2.2017
kvs1703e
26
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
16.2.2017
kvs1703e
27
16.2.2017
kvs1703e
28
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
16.2.2017
kvs1703e
29
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…
16.2.2017
kvs1703e
30
16.2.2017
RA
LA
RV
LV
kvs1703e
31
16.2.2017
RA
LA
RV
LV
kvs1703e
32
16.2.2017
RA
LA
RV
LV
kvs1703e
33
Correction – „transtransposition“
10 year survival is good
Later problems
Physical exercise
Failure of the systemic
right ventricle
Late coplications,
arrythmias.
SK – 80-100 young
people
16.2.2017
kvs1703e
34
16.2.2017
RA
LA
RV
LV
kvs1703e
35
Nezlučiteľná so životom
20-20/100 000
SK – 15 ročne
Senning, 1959
Mustard, 1964
Prekríženie predsiení!
Kaldarová a spol.,
Kardiológia pre prax
2008, 6, 219 – 223
Detské kardiocentrum,
BA
16.2.2017
kvs1703e
36
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
16.2.2017
kvs1703e
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
16.2.2017
kvs1703e
38
16.2.2017
kvs1703e
39