1- blue baby

Question 1

what is acrocyanosis?

Answer 1

blue hands & feet

• common for newborn babies and generally babies & young children (can be in adults too)
• it’s not worrying in babies though, very normal

Question 2

what is central cyanosis?

Answer 2

cyanosis of mouth, tongue etc. it’s always abnormal and needs investigation

Question 3

what is an important point to remember about cyanosis in anaemia?

Answer 3

only physically show cyanosis clinically when more than 5g/dl of deoxygenated Hb →means if anaemic can’t look cyanotic as don’t have enough haemoglobin in general to be deoxygenated to show cyanosis

Question 4

what does VINDICATE - the mnemonic used to help clinicians systematically think through potential causes of a patient’s symptoms or medical conditions stand for?

Answer 4

V = vascular

I = infection/inflammation

N = neoplastic

D = degenerative

I = Idiopathic (unknown) / Iatrogenic (doctors fault)

C = congenital

A = autoimmune

T = traumatic

E = endocrine/metabolic

Question 5

why if cyanotic baby, should you treat for infection?

Answer 5

because sepsis can cause cyanosis and babies get infections easily and if in doubt, sepsis

Question 6

what genetic test is good for detecting congenital abnormalities, intellectual disability?

Answer 6

chromosomal microarray

Question 7

what is negative of chromosomal microarray genetic test?

Answer 7

doesn’t detect balanced chromosomal rearrangements

Question 8

how could a child have a genetic condition with no family history? (4 reasons)

Answer 8

1. not mendelian inheritance (principle of inheritance from parent to offspring)
2. genetic variant could be de novo (mutation present for first time and not inherited from parent)
3. one parent could be non penetrant carrier (have gene but not show)
4. autosomal recessive

Question 9

what are defects of digeorge syndrome?

Answer 9

congenital condition,

• facial defects
• soft palate defects
• heart defects
• no thymus

Question 10

which germ layer does heart form from?

Answer 10

heart formed from lateral plate splanchnic mesoderm

Question 11

what is description of foetal circulation?

Answer 11

oxygenated blood from placenta via umbilical vein →RA →deoxygenated blood from vena cava from body also in RA = high pressure in right over left →opens foramen ovale pushing blood right to left and then like normal out aorta to rest of body

deoxygenated blood into RA→RV→pulmonary trunk and then through ductus arteriosus into aorta before blood reaches lungs

Question 12

when does ductus arteriosus functionally and anatomically close?

Answer 12

functionally closes after 8-27 hours

anatomically 1-3 months after

Question 13

what is a duct dependent lesion?

Answer 13

duct required to get enough blood flow

Question 14

what treatment is given to keep duct open?

Answer 14

prostaglandin therapy

Question 15

what is tetralogy of fallot?

Answer 15

1. pulmonary stenosis (narrowing of pulmonary trunk)
2. ventricular septal defect (mixing blood in ventricles)
3. overriding aorta (outflow tract deviated)
4. right ventricular hypertrophy

→duct dependent lesion as only way oxygenated blood getting to lungs and supporting blood flow

Question 16

what is persistent truncus arteriosus?

Answer 16

failure of aortopulmonary septum to form, means entrance to aorta & pulmonary trunk is the same so deoxygenated & oxygenated blood mixed - ductal independent lesion

Question 17

what congenital health problem is hinted to by feeling weak femoral pulse but strong pulse in arms in baby?

Answer 17

interrupted aortic arch (patent ductus arteriosus needs to be open to maintain blood flow)

Question 18

cyanosis can be more difficult to spot in dark pigmented skin, how can you still properly assess?

Answer 18

inspect the mucous membranes and hands/soles to spot them properly

Question 19

Why is chromosome microarray better than conventional karyotyping?

Answer 19

because it has greater resolution - detects chromosomal copy number variations (CNVs)

Question 20

what embryological defect is associated with digeorge syndrome?

Answer 20

Conotruncal defects = defects at the part of the heart that gives rise to the outflow tracts (aorta & pulmonary trunk)