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MD3001 > Development/Embryology/Genetics > Flashcards

Development/Embryology/Genetics Flashcards

(52 cards)

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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?

Study These Flashcards
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?

Study These Flashcards
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?

Study These Flashcards
A
  • ostium primum
  • ostium secundum
  • foramen ovale
24
Q

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

25
Which of the intersegmental arteries anastomose in fetal development?
1 to 7
26
What happens to the third aortic arch in fetal development?
detach from descending aortas to become carotid arteries
27
Which intersegmental arteries degenerate during fetal development?
1 to 6
28
Which 3 aortic arches regress on both sides during development of the vasculature?
1st, 2nd and 5th
29
What fetal structure forms the pulmonary trunk?
6th aortic arch
30
Define atrioventricular canal.
a narrowing between the primordial atrium and the primordial ventricle
31
What is the theoretical cause of patent foramen ovale?
excessive cell death/resorption of septum primum
32
What is the most common congenital cardiac malformation?
ventriculo-septal defects
33
Give three examples of ventriculo-spetal defect?
- 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
What is Fallot's tetralogy?
truncal septum deviates right amd does not meet the interventricular septum
35
What is coarctation of the aorta?
aortic narrowing after branching from left subclavian artery due to abnormalities in the media and intima
36
Which congenital heart disease is cyanotic and without shunt?
- hypoplastic left heart - very severe pulmonary stenosis - pulmonary/tricuspid atresia with or without intact septum
37
What are the signs of heart failure in infants with congenital heart disease?
- cyanosis - tachypnoea - poor feeding - extra work of breathing - grunting - poor blood circulation - faltering growth - sweating - hepatomegaly - murmurs
38
What are the possible complications of congenital heart disease?
- faltering growth - paradoxical embolus - bacterial endocarditis - pulmonary hypertension - polycythaemia - haemoptysis - arrythmia - shunt reversal
39
What are the 4 conditions that make up the tetralogy of Fallot?
- pulmonary valve stenosis - large ventricular septal defect - overriding aorta - right ventricular hypertrophy
40
What are the 4 most common CV defects in Down syndrome?
- AV septal defect - ventricular septal defect - atrial septal defect - patent ductus arteriosus
41
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?
DS-CHD --> q22.3 --> DSCAM and COL6A2
42
What is the other name of 22q11.2 deletion syndrome?
DiGeorge's syndrome
43
What are the 5 main abnormalities of 22q11.2 deletion syndrome?
- cardiac abnormalities - abnormal face - thymic aplasia - cleft palate - hypothyroidism
44
What are the 3 main cardiac abnormalities in DiGeorge's syndrome?
- interruption of aortic arch - tetralogy of Fallot - ventricular septal defect
45
How can DiGeorge's syndrome develop without deletion?
mutations in transcription factor gene TBX1 causes abnormal functioning
46
How would you differentiate between hypertrophic cardiomyopathy and physiological ventricular hypertrophy?
physiological --> septum not hypertrophied | pathological --> septum involved
47
What is the phenotype of cardiac cells in hypertrophic cardiomyopathy?
- increased muscle thickness - disorganised myocytes - fibrosis
48
What is the risk with hypertrophic cardiomyopathy?
exercise can cause sudden death
49
What are the two causes of channelopathy in long QT syndrome?
- loss of function mutation | - gain of function mutation
50
What is the ion for which a channel is most likely to be dysfunctional in long QT syndrome?
potassium
51
What is the name of the criteria establishing definite or possible familial hypercholesterolaemia?
Simon Broome
52
Which 4 genes can be mutated in familial hypercholesterolaemia?
- LDL receptor - ApoB - LDL receptor associated protein - PCSK9

MD3001 (9 decks)

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