Transcript Congenital heart diseases

Congenital heart diseases and
Tumors of heart
Dr. Usha
Introduction to CHD
Congenital heart diseases(CHD) are
abnormalities of heart or of great vessels
that are present at birth.
Most of these develop b/w 3-8 wks of
gestation during which most of the
cardiovascular structures are formed.
Incidence of CHD
1 %
High in premature infants.
Pathogenesis of CHD
 90%- UNKNOWN
 10%-following play a role
1. Environmental factors-congenital rubella
infection
2. Genetic factors- commonly associated with
certain chromosomal abnormalities (trisomies
13, 15,18,21 & Turner’s syndrome).Recent
studies have shown association of CHD with
mutations of genes coding transcription
factors ( NKX2.5).
List of CHD
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Ventricular septal defects-42%
Atrial septal defect-10%
Pulmonary stenosis-8%
Patent ductus arteriosus-7%
Tetralogy of fallot-5%
Coarctation of aorta-5%
Atrioventricular septal defects-4%
Aortic stenosis-4%
Transposition of great vessels-1%
Persistent truncus arteriosus-1%
Total anomalous pulmonary venous connection-1%
Tricuspid atresia -1%
Classification of CHD
1. Malformations causing LEFT to RIGHT
shunt
2. Malformations causing RIGHT to LEFT
shunt
3. Malformations causing obstruction.
Left to Right shunt (ACYANOTIC
CHD)
1. Atrial septal defect (ASD)
2. Ventricular septal defect (VSD)
3. Patent ductus arteriosus (PDA)
Eisenmenger’s syndrome
In left to right shunt, the flow of blood is
from L to R (because of high pressure in
left heart). After a long period L to R shunt,
right ventricular hypertrophy & pulmonary
hypertension develops leading to right
heart failure. During which there is
reversal shunt from L to R TO R to L. So
there is mixing of deoxygenated blood with
oxygenated leading to CYANOSIS.
Atrial septal defect
Defective development of atrial septum.
Communication b/w left & right atria.
Development of atrial septum
Develpoment of atrial septum
Types of ASD
1. Ostium secundum ASD: defective
develpoment of septum secundum which
fails to close ostium secondum.
2. Ostium primum ASD:septum primum fails
to fuse with endocardial cushion.
3. Sinus venosus ASD: located below the
SVC.
Development of atrial septum
Effects of ASD
ASD results in a L to R shunt.
Volume hypertrophy of right atrium &
ventricals.
Enlargement of tricuspid & pulmonary
valves.
Late stage: pulmonary hypertension &
right heart failure results leading to
reversal of shunt.
Ventricular septal defect
Defective development of ventricular
septum, allowing free communication &
shunting of blood B/w right & left
ventricles.
Development of ventricular septum
The fetal heart is a single chamber until 5th
week of gestation.Then interatrial &
interventricular septum develops.
A muscular septum grows from the apex of
heart upwards to join down growing
membranous septum, separating right &
left ventricles.
Types of VSD
1. Membranous VSD:
2. Infandibular VSD-just below the
pulmonary valve.
3. Muscular VSD – small in size
Effects of VSD
Shunting of blood from L to R ventricles.
Volume hypertrophy of right ventricles.
Pressure hypertrophy of right atrium.
Enlargement of tricuspid & pulmonary
valves.
Large defects: pulmonary hypertension &
right heart failure with reversal of shunt.
Patent ductus arteriosus
Ductus arteriosus is a connection B/w
aorta & pulmonary artery in fetal life which
closes after birth.
Persistence of ductus arteriosus leads to
PDA.
Effects of PDA
In PDA there is left to right shunt
connecting aorta to pulmonary artery.
Shunting of oxygenated blood to lungs.
Volume overload in pulmonary artery
leading to development of pulmonary
hypertension followed by right heart
failure.
PDA’S are high pressure shunts audible
has as harsh “machinary like” murmur.
Cyanotic congenital heart disease
(right to left shunt)
1.
2.
3.
4.
Tetralogy of of fallot
Transposition of great vessels
Persistent truncus arteriosus
Tricuspid atresia & stenosis
C/F of cyanotic CHD
Cyanosis
Clubbing of fingertips (hypertrophic
osteoarthropathy)
Polycythemia
Paradoxical embolism (venous emboli
bypass the lung & enter systemic
circulation).
Tetralogy of fallot
1. VSD
2. Obstruction to right ventricular outflow
tract (subpulmonary stenosis)
3. An aorta overriding the VSD
4. Right ventricular hypertrophy
Acyanotic tetralogy
Mild subpulmonary stenosis mimics VSD.
NO CYANOSIS.
Cyanotic tetralogy (classical
tetralogy)
Severe subpulmonary stenosis leads to
increased resistance to right ventricular
outflow.
This leads to increase in systemic vascular
resistance resulting in RIGHT to LEFT
shunting→cyanosis.
Pathogenesis
TOF results from anterosuperior
displacement of the infandibular septum,
so that there is an abnormal division into
pulmonary trunk & aortic root.
Marked dilatation of right ventricular
hypertrophy (“boot shaped heart”).
Transposition of great vessels
Is a complex malformation in which aorta
arises from right ventricle & pulmonary
trunk arises from left ventricle. Also the
aorta is displaced anterior to the
pulmonary trunk.
Persistent Truncus arteriosus
Very rare
Truncus arteriosus is the connection B/W
aorta & pulmonary artery in fetal period.
After birth it disappears.
Obstructive CHD
1. Coarctation of aorta
2. Pulmonary stenosis & atresia
3. Aortic stenosis & atresia
Coarctation of aorta
 “coarctation”- compressed or contracted
 Is localized narrowing of any part of the
aorta.
 2 types:
1. Post ductal or adult type- obstruction is
distal to the point of entry of ductus
arteriosus.
2. Preductal or infantile type-the narrowing
is proximal to the ductus arteriosus.
Type of Defect
Mechanism
Ventricular Septal Defect (VSD)
There is a defect within the membranous or muscular portions of the
intraventricular septum that produces a left-to-right shunt, more severe with
larger defects
Atrial Septal Defect (ASD)
A hole from a septum secundum or septum primum defect in the interatrial
septum produces a modest left-to-right shunt
Patent Ductus Arteriosus (PDA)
The ductus arteriosus, which normally closes soon after birth, remains open,
and a left-to-right shunt develops
Tetralogy of Fallot
Pulmonic stenosis results in right ventricular hypertrophy and a right-to-left
shunt across a VSD, which also has an overriding aorta
Transposition of Great Vessels
The aorta arises from the right ventricle and the pulmonic trunk from the left
ventricle. A VSD, or ASD with PDA, is needed for extrauterine survival. There
is right-to-left shunting.
Truncus Arteriosus
There is incomplete separation of the aortic and pulmonary outflows, along
with VSD, which allows mixing of oxygenated and deoxygenated blood and
right-to-left shunting
Coarctation of Aorta
Either just proximal (infantile form) or just distal (adult form) to the ductus is a
narrowing of the aortic lumen, leading to outflow obstruction
TUMORS OF HEART
1.PRIMARY tumors of heart
2.METASTATIC tumors
Primary tumors of heart
Very rare
Includes-Myxoma
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Lipoma
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Papillary fibroelastoma
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Rhabdomyoma
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Angiosarcoma
Myxoma
Most commonest primary tumor of heart
Commonly arises from atria.
Gross- single, sessile or pendunculated
mass.
Microscopy- composed of stellate ‘lepidic’
cells, endothelial cells, smooth muscle
cells, & undifferentiated cells embedded in
mucopolysaccharide ground substance.
Metastatic tumors
More common then primary
Common tumors- Ca lung & breast,
melanomas,leukemias & lymphomas.
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