16) Congenital heart diseases – cyanotic tetralogy of Fallot.

Question 1

Most common CCM (congenital cardiac malformation) in adults:

Answer 1

Interatrial septum defect

interventricular septum defect

Pulmonary stenosis

Patent ductus arteriosus Botalli

Question 2

what are the normal pressure in the chambers of the heart and their respective vessels

Answer 2

right atrium - 0-4 mmhg

right ventricle = 25/4 mmhg

pressure in pulmonary artery - 25/10

left atrium- 8-10

left ventricle - 120/10 mmhg

pressure in aorta 120/80

Question 3

classification of congenital heart disease with shunt ?

Answer 3

WITHOUT CYANOSIS = LEFT TO RIGHT SHUNT

intratrial septum defect
intraventicular septum defect
atrioventricular canal defect
patent ductus bothali

WITH CYANOSIS - RIGHT TO LEFT SHUNT

Fallot tetralogy

Eisenmenger syndrome - ventricle septal defect

Ebstein tricuspid anomaly

transposition of great arteries

truncus communis arteriosis

hypo plastic left heart syndrome

Question 4

what is the classification of congenital heart disease without shunt

Answer 4

WITHOUT SHUNT
aortic / pulmonary stenosis - valvular , sub , supra

coarctation of aorta
dextrocarda
dextroversion
levoverson

Question 5

what are the general clinical features of CONGENITAL HEART DISEASE WITH shunt and is CYANOTIC ?

Answer 5

blue babies opal grey

SQUATTING FOR RELIEF DURING HYPOXEMIC EPISODES

exertion dyspnea and tachypnea

nail clubbing

failure to thrive

Question 6

what is the definition of TETRALOGY OF FALLOT

Answer 6

1) right ventricular outflow obstruction / because of SUB VALVULAR pulmonary stenosis
2) right ventricular hypertrophy
3) Ventricular septal defect
4) Overriding aorta (above the VSD)

Question 7

TETRALOGY OF FALLOT is sometimes associated with sometimes associated with what genetic defects

Answer 7

Down syndrome, DiGeorge syndrome

Question 8

in tetralogy of fallot what determines the severity ?

Answer 8

The extent of right ventricular outflow tract obstruction and central pulmonary hypoplasia

vsd
mid subvalvular stenosonsi - left to right shunt no cyanosis

severe subvalvular stenosis
right to left shunt

however through time it evolves into more and more subvalvular stenosis

Question 9

what are the clinical findings specific to tetralogy of fallot

Answer 9

Tet spells = develop deep blue skin, nails and lips
occur suddenly and are potentially lethal. They are due to an activation of the sympathetic nervous system, which triggers spastic contractions of the hypertrophic infundibular musculature (at the transition from the right ventricle to the pulmonary artery).

hypercyanotic, hypoxic episodes with a peak incidence 2–4 months after birth

psychological and physical stress (e.g., crying, feeding, defecation)

Untreated young children tend to squat.

Question 10

what are the diagnostic indication for tetralogy of fallot ?

Answer 10

> harsh systolic murmur that is best heard over Erb’s point = HOWEVER
With the malformation progression it may weaken in intensity
Intensity increases in squatting position

Pulse oximetry: ↓ SpO2

Hyperoxia test: to distinguish cardiac from pulmonary causes of cyanosis
= PaO2 is measured during the administration of 100% oxygen.

ECG: right axis with right heart hypertrophy
P pulmonale with increasing age
P waves with an amplitude > 2.5 mm in the inferior leads II, III, and/or aVF and also V1 . It is a result of right atrial enlargement

echo - golden standard

chest x ray -small “boot-shaped” heart

Manometry

Question 11

what is the treatment strategy for tetralogy of fallot ?

Answer 11

if severe RVOT - give IV prostaglandin until surgery

acute hypoxia - such as tea spells
- administer oxygen
knee to chest position squatting

treatment for heart failure
such as diuretics
ionotropic drugs - digoxin

======

long term managmnet 
surgery 
VSD repair 
correct aortal positioning 
enlargement of the RVOT - 

definitive surgical correction

there can also be palliative surgery - anastomosis between arterial vessel and pulmonary artery to give pulmonary artery

Question 12

what are the specific risk factors for transposition of great vessel ?

Answer 12

Intrauterine risk factors

• Infants born to diabetic mothers
• Maternal alcohol
• Maternal age > 40 years
• Rubella infection or other viral illness

Question 13

what are the clinical findings ?

Answer 13

incompatible with life unless mixing occurs such as VSD or ASD or PDA

so there is early severe postnatal cyanosis
and tachypnea

Question 14

what are the diagnostic findings specific to TGV?

Answer 14

Auscultation
Single loud S2
If concurrent VSD is present: systolic murmur at eras point

echo

pulse oximetry

XRAY
heart with egg on string appearance

Question 15

what is the treatment for TGV ?

Answer 15

infusion of PGE1 - prevent closure of PDA

surgical correction within first two weeks of life

balloon atrial septostomy
- if surgery cannot be performed or hypoxia is severe
the procedures right heart catheterisation with creation or enlargement of existing ASD

Question 16

what is tricuspid valve atresia ?

Answer 16

no blood flow between the right atrium and the right ventricle

ALMOST ALWAYS accompanied with ASD AND VSD and right ventricular HYPOPLASIA

Question 17

what are the auscultory findings with tricuspid valve atresia ? and what is the diagnosis ?

Answer 17

if VSD is present - rough holosystolic murmur of left sternal border

echo

pulse oximetry

chest x ray

ecg - left axis deviation because left ventricular hypertrophy
right atrial enlargement so p pulmonate
minimal r waves in precordial leads

Question 18

what is the treatment for tricuspid valve atresia ?

Answer 18

infusion of PGE1

three staged surgical procedure - without surgery children die in early childhood

Question 19

what is ebstein anomaly ?

Answer 19

malformed and displaced tricuspid valve leaflets - giving rise to tricuspid regurgitation and right atrial enlargement

usually associated with patent foramen ovale , ASD and etc

Question 20

what are the causes for ebstein anomaly ?

Answer 20

prenantal lithium exposure

genetic defects

Question 21

what is the pathophysiology of ebstein anomaly ?

Answer 21

displaced valve = reduction in ventricular volume
regrurgitation = atrial dilation

small RV - artrialisation (right ventricle becomes part of the right atria) of the right ventricle

functional pulmonary valve atresia - obstruction of the rv by the large sail like anterior leaflet

so blood flows through patent foramen ovale - right to left shunt - cyanosis

Question 22

what re the clinical findings of ebstein anomaly ?

Answer 22

prenatal - asciti or hydrops fetalis
pleural effusion
pericardial effusions

postnatal

Question 23

what are the diagnostics for ebstein anomaly ?

Answer 23

tricuspid regurgitation - wide split S2 , holosytolic murmur at left sternal border

prenantal - ultrasound

echocardiography
xray - cardiomegaly with ra enlargement

ecg - right axis deviation

Question 24

what is the treatment for ebstein anomaly ?

Answer 24

IV PGE1

surgery
systemic pulmonary shunt
repair of tricuspid valve
reconstruction of right ventricle

Question 25

what is patent truncus arteriosus?

Answer 25

Failed separation of aorta and pulmonary artery during development → single trunk that receives output from both ventricles

Question 26

what is patent truncus arteriosus associated with ?

Answer 26

di george syndrome

Question 27

what are the clinical features of truncus arteriosus ?

Answer 27

accented and bounding peripheral pulses

and symptoms of heartfailure such as dyspnea

Question 28

what are the diagnostic confirming patent truncus arteriosus?

Answer 28

auscultation - harsh systolic murmur - lower left sternal border
loud s2

echocardiograph

pulse oximetry

chest x ray - right aortic arch but no pulmonary artery

Question 29

what is the treatment for persistent truncus arteriosus ?

Answer 29

stablaistion of hemodynamics - diuretics , dopamine , ventilation , correction of metabolic acidosis

surgical REPAIR DURING NEONATAL PERIOD - or die within first year of life