Congenital Heart Disease

Question 1

what is congenital heart disease?

Answer 1

abnormality of the structure of the heart
present at birth
‘ a gross structural abnormality of the heart or intrathoracic great vessels that is actually or potentially of functional significance’

Question 2

describe mild congenital heart disease

Answer 2

asymptomatic, may resolve spontaneously or may progress to moderate or severe in adulthood in some specific conditions

Question 3

describe moderate congenital heart disease

Answer 3

require specialist intervention and monitoring in cardiac centre

Question 4

describe severe congenital heart disease

Answer 4

present severely ill/ die in newborn period or early infancy

Question 5

describe major congenital heart disease

Answer 5

requires surgery within the first year of life

Question 6

how does it present?

Answer 6

screening 
- antenatal
- newborn baby check
well baby with clinical signs 
unwell baby 
- cyanosis
- shock 
- cardiac failure

Question 7

presentation day 1-2 baby check

Answer 7

murmurs
abnormal pulses
cyanosis

Question 8

presentation day 3-7

Answer 8

sudden circulatory collapse
shock
cyanosis
sudden death

Question 9

presentation 4-6 weeks

Answer 9

signs of cardiac failure- reduced feeding, failure to thrive, breathlessness, sweatiness

Question 10

presentation 6-8 week GP check

Answer 10

incidental finding of murmurs at other clinical contacts

Question 11

describe antenatal screening

Answer 11

US at 18-22 weeks gestation 
4 chamber heart view and outflow tract view
sensitivity very variable
- operator experience and training 
- maternal characteristics

Question 12

treatment of antenatally diagnosed duct dependant lesion

Answer 12

prostaglandin infusion

Question 13

describe newborn screening

Answer 13

clinical examination at around 24 hours of age
femoral pulses, heart sounds and presence or murmurs
sometimes includes measurement of pre and post ductal saturations
will detect any condition causing a murmur, obvious cyanosis or abnormal pulses

Question 14

what causes cyanosis in babies?

Answer 14

any condition causing deoxygenated blood to bypass the lungs and enter the systemic circulation
any condition where mixed oxygenated and deoxygenated blood enters the systemic circulation from the heart
clinically causes bluish discolouration

Question 15

differential diagnosis of cyanosis

Answer 15

cardiac disease- blue with little or no respiratory distress
resp disease- increased work of breathing, xray changes
PPHN- otherwise very unwell babies

Question 16

collapse at time of duct closure

Answer 16

often between 2 and 7 days
severe cyanosis or pallor, tachypnoea, distress, rapid deterioration
pallor, prolonged CRT, poor or absent pulses, hepatomegaly, crepitations, increased work of breathing
profoundly acidotic

Question 17

treatment of collapse at time of duct closure

Answer 17

ABC- support airway and breathing as necessary
prostglandin E2 to open duct
multisystem supportive treatment
transport to cardiac surgical centres

Question 18

duct dependant systemic circulation

Answer 18

hypoplastic left heart
critical aortic stenosis
interrupted aortic arch
critical coarctation of aorta

Question 19

duct dependant pulmonary circulation

Answer 19

tricuspid atresia

pulmonary atresia

Question 20

presentation with cardiac failure

Answer 20

usually seen with moderate to large left to right shunts- increased pulmonary flow, increased ventricular load
tend to present after a few weeks as pulmonary pressures drop

Question 21

clinical signs of failure in babies

Answer 21

failure to thrive
slow/ reduced feeding
breathlessness (especially when feeding)
sweatiness
hepatomegaly 
crepitations

Question 22

describe moderate/ large ventricular septum defect

Answer 22

big defect- less gradient
often no murmur at baby check
murmur develops as pulmonary pressures drop over first weeks
increased pulmonary circulation, congestive cardiac failure

Question 23

long term management of major congenital heart disease

Answer 23

surgical management
- repair vs palliation
developmental problems
- hypoxia
- bypass time
need for surgery
- valves, stenosis
- transplant
emotional/ social issues

Question 24

patent ductus arteriosus repair

Answer 24

catheter procedure
- closure by device
couple of follow up appointments 
- ensure flow stopped
- device in correct position 
discharged

Question 25

ventricular septum defect repair

Answer 25

closure by patch
follow up during childhood/ adolescence
rhythm problems or problems
generally expect to go on to normal life

Question 26

surgery for hypoplastic left heart syndrome

Answer 26

3 stage complex
total cavo-pulmonary connection
SVC and IVC both connected to right PA
intra atrial patch directs flow from IVC to right PA
significant mortality at each stage and between
ends with RV supplying systemic circulation
will fail over time
transplant