Congenital Heart Disease + other abnormalities

Question 1

Cranial to Caudal heart tube dilatations

Answer 1

Bulbus cordis
Ventricle
Atrium
Sinus venosus

Question 2

Septation of the heart

Answer 2

Looping of the heart allows straight heart tube to form a more complex structure
Most cardiac looping occurs during fourth week + completes during 5th week

Question 3

Cardiac embryology

Answer 3

Clusters of angiogenic cells- mesodermal cardiogenic plate

Question 4

When do R/L endocardial tubes fuse to single cardiac tube

Answer 4

By day 21

Question 5

When does heart beat

Answer 5

By day 23

Question 6

Atrial, ventricular and outflow septation

Answer 6

Day 28

Question 7

Foetal circulation Anatomical connections

Answer 7

Foramen ovale
Ductus arteriosus
Ductus venosus

Question 8

Foetal circulation

Answer 8

High resistance pulmonary circulation

Low resistance systemic circulation

Question 9

Cyanotic CHD

Answer 9

Patient blue
Affected by Hb level
Lung disease (e.g. pneumonia) may cause cyanosis

Question 10

Acyanotic CHD

Answer 10

Patient pink

Question 11

Cyanotic CHD Hb

Answer 11

Blue colours produced by amounts of deoxygenated Hb, not percentage saturation (SaO2)
Cyanosis = deoxygenated Hb>50g/l in capillaries
Cyanosis= >34g/l in arterial blood

Question 12

Cyanosis in capillaries

Answer 12

Deoxygenated Hb > 50g/l

Question 13

Cyanosis in arteries

Answer 13

Deoxygenated Hb >34g/l

Question 14

Cyanosis congenital heart disease gas exchange

Answer 14

Normal alveolar gas exchange 
Normal CO2
No dyspnoea
Normal pulmonary venous saturations
Results from "shunting" of deoxygenated blood from R --> L side of circulation

Question 15

Cyanosis lung disease gas exchange

Answer 15

Impaired alveolar gas exchange
CO2 may be increased
Tachypnoea + recession
Reduced pulmonary venous saturations
Results from O2 diffusion problems or ventilation-perfusion mismatch within lung

Question 16

Transposition of great arteries

Answer 16

Cyanotic
Aorta and pulmonary artery switched
Now Aorta attached to RV, PA attached to LV

Question 17

Tetralogy of Fallot

Answer 17

Cyanotic
RV and LV don’t have barrier
PA blood supply from RV less

Question 18

Other Cyanotic CHD forms

Answer 18

Truncus arteriosus

Tricuspid atresia

Question 19

Acyanotic CHD 2 groups

Answer 19

L–> R shunts which increase pulmonary blood flow (leads to pulmonary oedema/hypertension)
Left heart outflow tract obstruction (leading to pulmonary oedema, impaired tissue perfusion, lactic acidosis)

Question 20

Pulmonary hypertension causes…

Answer 20

R–>L shunting
SO often Acyanotic can lead to Cyanotic
–> Acyanotic is L –>R, but causes pulmonary hypertension
–> pulmonary hypertension can switch it to R–>L, which is cyanotic

Question 21

Ventricular septal defect

Answer 21

L–> R shunt
Ventricular septum hole
Oxygenated blood from left goes into PA

Question 22

Preductal Coarctation of aorta

Answer 22

LV outflow tract obstruction

Question 23

Other Acyanotic CHD forms

Answer 23

Atrial septal defect
Atrioventricular septal defect
Critical aortic stenosis
Patent ductus arteriosus

Question 24

Hypoplastic left heart

Answer 24

LV tiny
PA feeds into AO via patent ductus arteriosus still being open
Hole between RA and LA

Question 25

Re-opening ductus arteriosus

Answer 25

Prostaglandin E

Question 26

Ductus arteriosus + foramen ovale may

Answer 26

Bypass obstruction (tetralogy of fallot, pulmonary atresia, coarctation)
Allow mixing
Symptoms of heart condition only obvious when ductus closes
–> re-opening ductus or enlarging foramen ovale can be life saving

Question 27

Treatments of CHD

Answer 27

Depends on condition
Monitoring
Diuretics for pulmonary oedema
Re-open ductus arteriosus with Prostaglandin E
Surgery + catheter procedures

Question 28

Treatment of Symptomatic Acyanotic CHD

Answer 28

Expectant- small muscular VSDs, PDA and ASD/PFO may close spontaneously
Diuretics +/- ACE inhibitor for L–>R shunts
Prostaglandin E for LV outflow tract obstruction

Question 29

Treatment Acyanotic CHD

Answer 29

Percutaneous catheter closure of PDA
Balloon dilatation of valvular stenosis
Repair of coarctation
Open heart surgery for VSD/ASD

Question 30

Eisenmenger Syndrome in VSD

Answer 30

Secondary pulmonary hypertension reverses direction of shunt

Question 31

Neural tube defects

Answer 31

Spina bifida
Meningocele
Myelomeningocele (spina bifida)
Encephalocele
Anencephaly

Question 32

Closure of Neural Tube complete by day

Answer 32

Day 28

Question 33

Myelomeningocele + Hydrocephalus treatment

Answer 33

Closing reduces infection risk BUT doesn’t restore normal neural function
Hydrocephalus common and needs V-P shunt

Question 34

Lumbar Myelomeningocele consequences

Answer 34

Mixed sensory, motor and autonomic problems
Dependent on level of lesion and degree of neural disruption
Loss of bladder control- incontinence +/- urinary retention
Faecal incontinence
Paralysis and loss of sensation in legs

Question 35

Gastroschisis

Answer 35

Full thickness small defect in abdominal wall lateral to umbilicus
Bowel free within amniotic cavity
All intestines etc come out
Surgical closure possible
Bowel may take 1-3 months to start functioning normally
Complete cure

Question 36

Exomphalos

Answer 36

Membrane covers herniated viscera
Abdo wall defect
Wide-based defect

Question 37

Cleft lip + Palate

Answer 37

Failure of fusion of maxillary and frontonasal processes
Complete correction possible
Minor palatal control abnormalities may persist
Eustachian tube function- risk of conductive hearing loss