2 - Paeds - CVS - Cardiac Disease and Syndromes + Hypoplastic LH Syndrome

Question 1

Turners ass w?

Answer 1

coarctation of aorta

Question 2

Noonan’s - 3 features? range of severity?

Answer 2

most commonly short stature
unusual facial features
congenital HD

mild - life-threatening

Question 3

Noonan’s - 2 heart defects? % of noonan kids have them?

Answer 3

Pulm Stenosis - 50% of noonan’s

Hypertrophic Cardiomyopathy - ~10-20% of noonan’s

Question 4

Sx and Tx for Noonan’s pulm stenosis? and for Hypertrophic cardiomyopathy?

Answer 4

usually no Sx so no Tx

myocardium too large - strain on heart -> SOB
Can cause infant HF but generally improves with age

Question 5

Marfans - what is it? 3 things it affects (among others)

Answer 5

connective tissue disorder

bl vessels (damaging heart) skeleton (long thin limbs)
eyes (lens dislocation)

Question 6

Marfans - heart problems???

Answer 6

aortic walls weakened -> aneurysm/dissection

mitral and tricuspid valves can prolapse and not close - regurg

Question 7

Hypoplastic LHS - what is wrong with the heart specifically

Answer 7

underdeveloped L heart - MV small atretic, LV diminutive, AV atresia, v small ascending aorta, invariably coarctation

Question 8

when is first detection of HLHS? mgmt of this?

Answer 8

antenatal USS detection > effective counselling and prevention of neonatal illness

Question 9

What is HLHS present after birth?

Answer 9

they are the sickest of all neonates with duct dep systemic circulation

Question 10

HLHS - no flow through left heart..so? 1 other clinical features

Answer 10

so the duct constricts -> profound acidosis and rapid CV collapse

weak/absent peripheral pulses (weak femorals = coarctation)

Question 11

HLHS mgmt

Answer 11

neonatal operation, norwood procedure, glenn/hemi fontan at 6m and Fontan at 3y