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MD3001 > Development/Embryology/Genetics > Flashcards

Development/Embryology/Genetics Flashcards

1
Q

What are the 3 bypasses of fetal circulation?

A
  • ductus venosus
  • foramen ovale
  • ductus arteriosus
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2
Q

Where is the placenta found in the uterus?

A

fundus of the uterus

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3
Q

What are the layers surrounding the umbilical cord? What is within the umbilical cord?

A
  • fetal membrane
  • amnion
  • 2 umbilical arteries
  • umbilical vein
  • Wharton’s jelly
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4
Q

What do the two branches of the umbilical vein do?

A
  • branch to liver: cell survival

- ductus venosus: bypasses liver directly into IVC

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5
Q

Highlight the passage of the blood in the foetal heart.

A

right atrium –> foramen ovale –> left atrium –> left ventricle

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6
Q

How much of the blood from the descending aorta goes to the placenta?

A

2/3

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7
Q

By what time is the foramen ovale structurally closed?

A

4months

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8
Q

What are the two causes of functional closure of the ductus arteriosus?

A
  • increased oxygen

- fall in prostaglandins

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9
Q

What is the two pathologies patent ductus arteriosus can lead to?

A
  • pulmonary hypertension

- congestive right-side cardiac failure

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10
Q

When the blood flow from the umbilical vein stops, through which structures does portal venous blood flow?

A

hepatic sinuses

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11
Q

After birth, ductus venosus becomes ligamentum venosum. What about the umbilical vein?

A

ligamentum teres hepatis

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12
Q

Which organ does the umbilical artery still supply after birth and into adulthood?

A

bladder

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13
Q

Where would you find the remnants of the distal parts of the umbilical arteries?

A

within umbilical folds (medial umbilical ligament)

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14
Q

Where do angiogenic cell clusters appear in the trilaminar disc of the embryo?

A

between splanchnic mesoderm and endoderm

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15
Q

From which layer of the trilaminar disc do myocardiac cells arise?

A

(splanchnic) mesoderm

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16
Q

What are the 5 parts of the heart tube at day 18, from cephalic to caudal?

A
  • aortic sac
  • bulbus cordis
  • primordial ventricle
  • primordial atrium
  • sinus venosus
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17
Q

What are the three veins leading to the sinus venosus, and where do they come from?

A

VITELLINE
yolk sac

UMBILICAL
placenta

CARDINAL
head

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18
Q

What are the reasons why the heart tube folds?

A
  • fetal folding

- different growth rates of the sections of the heart tube

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19
Q

Around what day is diffusion no longer sufficient for the embryo, and vasculature is needed?

A

day 18

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20
Q

What are the 3 structures bulbus cordis develop into?

A
  • right ventricle
  • conus arteriosus
  • truncus arteriosus
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21
Q

How are the valves in the heart tube formed? What other structure(s) is(are) formed in the same way?

A

enzymes shape the wall of the atrioventricular canal (myocardium) to form the valves, papillary muscles and chorda tendinea, as well as the origin of the interventricular septum

22
Q

What are the names of the 4 cushions partitioning the common atrioventricular canal?

A
  • ventral endocardial cushion
  • dorsal endocardial cushion
  • lateral endocardial cushion
  • medial endocardial cushion
23
Q

What are the names of the different openings in the interatrial wall through fetal development, in order of apparition?

A
  • ostium primum
  • ostium secundum
  • foramen ovale
24
Q

On which side of the septum primum does the septum secundum develop?

A

right side

25
Q

Which of the intersegmental arteries anastomose in fetal development?

A

1 to 7

26
Q

What happens to the third aortic arch in fetal development?

A

detach from descending aortas to become carotid arteries

27
Q

Which intersegmental arteries degenerate during fetal development?

A

1 to 6

28
Q

Which 3 aortic arches regress on both sides during development of the vasculature?

A

1st, 2nd and 5th

29
Q

What fetal structure forms the pulmonary trunk?

A

6th aortic arch

30
Q

Define atrioventricular canal.

A

a narrowing between the primordial atrium and the primordial ventricle

31
Q

What is the theoretical cause of patent foramen ovale?

A

excessive cell death/resorption of septum primum

32
Q

What is the most common congenital cardiac malformation?

A

ventriculo-septal defects

33
Q

Give three examples of ventriculo-spetal defect?

A
  • no truncal ridge (one vessel from both ventricles, divides later into aorta and pulmonary trunk)
  • no spiral to the ridge (aorta linked to right ventricle and pulmonary trunk to left ventricle)
  • Fallot’s tetralogy
34
Q

What is Fallot’s tetralogy?

A

truncal septum deviates right amd does not meet the interventricular septum

35
Q

What is coarctation of the aorta?

A

aortic narrowing after branching from left subclavian artery due to abnormalities in the media and intima

36
Q

Which congenital heart disease is cyanotic and without shunt?

A
  • hypoplastic left heart
  • very severe pulmonary stenosis
  • pulmonary/tricuspid atresia with or without intact septum
37
Q

What are the signs of heart failure in infants with congenital heart disease?

A
  • cyanosis
  • tachypnoea
  • poor feeding
  • extra work of breathing
  • grunting
  • poor blood circulation
  • faltering growth
  • sweating
  • hepatomegaly
  • murmurs
38
Q

What are the possible complications of congenital heart disease?

A
  • faltering growth
  • paradoxical embolus
  • bacterial endocarditis
  • pulmonary hypertension
  • polycythaemia
  • haemoptysis
  • arrythmia
  • shunt reversal
39
Q

What are the 4 conditions that make up the tetralogy of Fallot?

A
  • pulmonary valve stenosis
  • large ventricular septal defect
  • overriding aorta
  • right ventricular hypertrophy
40
Q

What are the 4 most common CV defects in Down syndrome?

A
  • AV septal defect
  • ventricular septal defect
  • atrial septal defect
  • patent ductus arteriosus
41
Q

What region of chromosome 21 is responsible for most CV defects in Down syndrome? Which 2 parts of which gene are the most likely culprits?

A

DS-CHD –> q22.3 –> DSCAM and COL6A2

42
Q

What is the other name of 22q11.2 deletion syndrome?

A

DiGeorge’s syndrome

43
Q

What are the 5 main abnormalities of 22q11.2 deletion syndrome?

A
  • cardiac abnormalities
  • abnormal face
  • thymic aplasia
  • cleft palate
  • hypothyroidism
44
Q

What are the 3 main cardiac abnormalities in DiGeorge’s syndrome?

A
  • interruption of aortic arch
  • tetralogy of Fallot
  • ventricular septal defect
45
Q

How can DiGeorge’s syndrome develop without deletion?

A

mutations in transcription factor gene TBX1 causes abnormal functioning

46
Q

How would you differentiate between hypertrophic cardiomyopathy and physiological ventricular hypertrophy?

A

physiological –> septum not hypertrophied

pathological –> septum involved

47
Q

What is the phenotype of cardiac cells in hypertrophic cardiomyopathy?

A
  • increased muscle thickness
  • disorganised myocytes
  • fibrosis
48
Q

What is the risk with hypertrophic cardiomyopathy?

A

exercise can cause sudden death

49
Q

What are the two causes of channelopathy in long QT syndrome?

A
  • loss of function mutation

- gain of function mutation

50
Q

What is the ion for which a channel is most likely to be dysfunctional in long QT syndrome?

A

potassium

51
Q

What is the name of the criteria establishing definite or possible familial hypercholesterolaemia?

A

Simon Broome

52
Q

Which 4 genes can be mutated in familial hypercholesterolaemia?

A
  • LDL receptor
  • ApoB
  • LDL receptor associated protein
  • PCSK9

MD3001 (9 decks)

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