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Cardiovascular System Module > Lecture 5 - Congential Heart Defects > Flashcards

Lecture 5 - Congential Heart Defects Flashcards

1
Q

What are congenital heart defects?

A

Structural abnormalities of the heart that are normally present at birth and affect the blood flow through the heart and to the rest of the body

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2
Q

When do congenital heart defects occur?

A

During embryogenesis and foetal growth

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3
Q

What is the septa?

A

Separates the chambers and great vessels

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4
Q

What do valves allow?

A

Unidirectional flow of blood through the heart and vessels

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5
Q

What are the great veins?

A

Vena cava and pulmonary veins

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6
Q

What are the ventricles?

A

Pumping chambers

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7
Q

What is the atria?

A

The collecting chambers

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8
Q

What is the left ventricle connected to?

A

Aorta

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9
Q

What is the right ventricle connected to?

A

Pulmonary trunk

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10
Q

Where does deoxygenated blood enter?

A

Right atrium

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11
Q

Where does oxygenated blood enter?

A

Left atrium

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12
Q

What does most congenital heart defects result in mixing?

A

Deoxygenated blood with oxygenated blood

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13
Q

What is the heart composed of?

A

A thick layer of cardiac muscle called myocardium

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14
Q

What are individual cells in the myocardium called?

A

Cardiomyocytes

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15
Q

What is the layer of cells called inside the heart?

A

Endocardium

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16
Q

What structures does the endocardium form?

A

Cushions which are precursors of the valves and the septa

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17
Q

What are the great arteries coated in?

A

Smooth muscle for muscular support

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18
Q

What are neural crest cells essential for?

A

Outflow tract cushions - come from outside the heart and migrate down into the heart and contribute to its development

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19
Q

What is the heart coated with?

A

A single cell layer called epicardium

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20
Q

What is the heart enclosed in?

A

The pericardium - a sac

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21
Q

What is cardiovascular development divided into?

A

Embryonic stage and foetal stage

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22
Q

What happens in the embryonic stage?

A

All organs are forming and cells are differentiating, in humans this lasts 8 weeks

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23
Q

What is the foetal stage?

A

Is mostly growth lasts 32 weeks, maturing of certain structures

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24
Q

What happens mid way through the embryonic stage?

A

The heart starts it form

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25
Q

What cells are formed in them formation of the heart in the embryonic stage?

A

The progenitor cells

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26
Q

What are progenitor cells?

A

They come together and form the linear heart tube - where they have the ventricle at the top and the atria at the bottom as this is the way through blood comes through

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27
Q

Describe looping

A

Rearranging the heart tube so you end up with the atria at the top and ventricles at the bottom

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28
Q

How are the chambers formed in the heart?

A

By ballooning

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29
Q

What is septation?

A

Where the heart is formed and divided into each chamber

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30
Q

What is the cardiac mesoderm?

A

Original progenitors of the heart - form in early development

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31
Q

What does the formation of the foregut do?

A

Brings the two arms of cardiac crescent together

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32
Q

What is the cardiac crescent?

A

Cell progenitors migrate out to the anterior lateral plate

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33
Q

What is gastrolation?

A

The stage you start to get condensing of the cells into layers

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34
Q

What does gastrolation form?

A

The distinct tissue layers that will then go onto to differentiate into vital organs

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35
Q

What is gastrolation portrayed as?

A

A single sheet which has an ectoderm

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36
Q

What happens to the ectoderm as development continues?

A

There is infolding of the ectoderm cells which forms the neural tube

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37
Q

What happens after formation of the neural tube?

A

Fusion of the neural tube and the mesoderm is pushed into a cardiac crescent and forms the heart

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38
Q

What are the two distinct progenitor cells that form the heart?

A

Primary heart and secondary heart fields

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39
Q

What does the primary heart field form?

A

The left ventricle and part of the atria

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40
Q

What does the secondary heart field do?

A

Adds cells to ends of the heart tube as looping occurs and forms the right ventricle and outflow tract and most of the atria

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41
Q

What happens during the looping phase?

A

The heart tube detaches from the body wall region

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42
Q

When is the heart joined to the body wall at outflow and inflow tract?

A

After breakdown of dorsal mesocardium

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43
Q

What are some inherited cardiac malformations?

A

Atrioventricular defects and gapes between the atria and the ventricles

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44
Q

What happens if the vessels are transposed?

A

It could be disastrous

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45
Q

What are inherited cardiac malformations associated with?

A

Syndromes or single gene mutations - or could be syndromes linked with single gene mutations

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46
Q

What is the process for septation important?

A

Because it is how you separate the two blood streams

47
Q

What is the outflow track separated into?

A

The aorta and the pulmonary trunk

48
Q

What is the atria separated by?

A

The atrial septum

49
Q

What does the ventricular septum separate?

A

The right and the left ventricle

50
Q

What are the atria and the ventricle separated by?

A

By valves, left = bicuspid, right = tricuspid

51
Q

How is the outflow tract septated?

A

Has the aorta coming off the left ventricle and the pulmonary trunk going to the arteries off the right ventricle

52
Q

What is the septum that separates the atria?

A

The interatrial septum

53
Q

What are the two parts of the interatrial septum?

A

Prime and the secondum

54
Q

What is different about the atria septum?

A

Don’t form a complete barrier

55
Q

What is a cardiac shunt?

A

When blood follows a pattern that deviates from the systemic circulation

56
Q

What is a cardiac malformation in shunts?

A

Left - to right shunt is bad

57
Q

Describe left to right shunts

A

Allows oxygenated blood to return directly to the lungs rather than going to the rest of the body

58
Q

Describe the right to left shunt

A

Allows deoxygenated blood to bypass the lungs and return to the body without becoming oxygenated - better shunt when you are foetus

59
Q

What are two types of shunts used in the foetus?

A

Arterial duct and foramen ovale (part of the atrial septum)

60
Q

In foetus what does the arterial duct do?

A

Acts as a shunt to divert blood away from the non-functioning lungs

61
Q

When does the arterial duct close?

A

1-2 days after birth

62
Q

Where is the arterial duct found?

A

Connects to the pulmonary trunk and goes straight to the aorta

63
Q

What does the foreman ovale allow?

A

Allows blood to be pumped across from the right atrium into the left atrium then to the left ventricle to be pumped around the body - bypassing the lungs

64
Q

What does the right to left shunts allow?

A

Allows the foetus to have a pumping heart

65
Q

What is a patent arterial duct?

A

The arterial duct remains open, this means that oxygenated blood can be pushed back into the aorta down the channel into the pulmonary circulation. Putting stress on the heart and can cause left ventricular overload and increased circulation in the lungs

66
Q

What are the symptoms of patent arterial duct?

A

Fast breathing, shortness of breath, lack of appetite, failure to gain weight and sweating with exertion

67
Q

What are prostaglandins and how are they derived?

A

They are physiologically active compounds and are derived from arachidonic acid

68
Q

What do prostaglandins do?

A

They interact with specific receptors and the interactions allowed for the specific vessel to be maintained in a dilated state (open)

69
Q

What happens after birth - to prostaglandins?

A

Prostaglandins and ligands are reduces because they are not signalling anymore - the dilation factor is taken away and the duct starts to close off

70
Q

How long can it take for the duct to close?

A

24-48 hours

71
Q

What do prostaglandins interact with?

A

EP4 and EP2

72
Q

What happens to prostaglandins with babies that have CHD (congenital heart defects)

A

Prostaglandins are given to the baby to keep the duct open so there is time to prep for surgery - allows the duct to be open so that some oxygenated blood can be delivered around the body

73
Q

What are intra cardiac malformations?

A

Defects inside the heart

74
Q

Where are the most common intra-cardiac malformations found?

A

In the atria or the ventricles

75
Q

What is an example of a intra-cardiac malformation in the atria?

A

Atrial septal defect (ASD) which causes a left-to right shift and volume overload of the right atrium and right ventricle

76
Q

Describe the atrial septal defect

A

An opening in the interatrial septum

77
Q

How does atrial septal defect affect individuals?

A

Children are rarely symptomatic but it can lead to later life problems e.g. hypertension, heart failure or atrial arrhythmias

78
Q

What does the ventricular septal defect (VSD) cause?

A

Left to right shunt - communications between the ventricles

79
Q

What direction will shifting normally go in?

A

From the left to the right because of the higher pressures in the left heart

80
Q

What are the 4 other common congenital heart defects known as the tetralogy of fallout?

A
  1. VSD, overriding aorta, pulmonary stenosis and right ventricular hyper trophy
81
Q

Describe the overriding aorta

A

Aorta sits on top of the VSD, instead of being on the left ventricle - means that it can receive blood from the left AND the right

82
Q

Describe pulmonary stenosis

A

Narrower, thinner then normal - the right side of the heart has to pump hoarder to try and get blood to the lungs and the extra work required by the ventricles makes it bigger which is hypertrophy

83
Q

ASD = atrial septal defect symptoms

A

Heart murmur, shortness of breath, fatigue, swelling of legs, feet or abdomen

84
Q

VSD symptoms

A

Shortness of breath, fast heart rate, paleness, failure to gain weight and sweating while feeding

85
Q

Tetralogy of fallout (FOT) symptoms

A

Shortness of breath, blue colouration of the skin

86
Q

What is the outflow tract?

A

The region of the heart through which blood passes to enter the great arteries

87
Q

What happens to the outflow tract during development?

A

Goes from a single tube to having cushions that then remodel to form valves (aortic and pulmonary valve)

88
Q

3 cushions =

A

Tricuspid valve

89
Q

2 cushions =

A

Bicuspid valve

90
Q

What is septation of the outflow tract caused by?

A

Neural crest cells

91
Q

What do the neural crest cells do?

A

Separates the common trunk into two vessels

92
Q

What are cardiac neural crest cells known as?

A

A migratory cell population that stem from the neural tube

93
Q

What transition to neural crest cells undergo?

A

Epithelial to mesenchymal transition - means that can now migrate down to the fragile arches

94
Q

What can neural crest cells also differentiate into?

A

Smooth muscle which coat the forming arch arteries

95
Q

Where do neural crest cells originate from?

A

The dorsal region in the occipital neural tube

96
Q

What can the pax3 gene do in mouse models?

A

Can separate the aorta and the pulmonary trunk

97
Q

What are outflow tract malformations?

A

Double outlet right ventricle - aorta remains in the right ventricle it hasn’t been twisted, there is no aorta to take blood away so within a couple of cycles the ventricle will swell and pop

98
Q

What is a consequence of the double outlet phenotype?

A

Double outlet is always associated with the ventricle septal defect

99
Q

What is another more severe phenotype associated with the doublet outlet?

A

Common arterial trunk (CAT), septation has failed and you end up with one big vessel

100
Q

Symptoms for outflow tract malformations

A

Blue colouration, shortness of breath, lack of appetite and failure to fain weight

101
Q

How long into birth can mothers know what is wrong with their baby?

A

20 weeks

102
Q

What is the most common congenital defect?

A

The bicuspid aortic valve, normally the valve has 3 leaflets but it only has 2 which means there is abnormal fusion between the 2 cusps. Affects 1-2% of the population

103
Q

What are the sympotoms for bicuspid aortic valve defect?

A

Some people can be asymptomatic, later life problems include calcification (get stiff), stenosis and aortic valve regurgitation where the valve can let blood out but it doesn’t close properly

104
Q

Describe hypoplastic left heart syndrome

A

Very serious affects 4 per 10,000 births, effects the structure of the left side of the heart, get a very small left ventricle - the capacity to deliver oxygenated blood around the body is reduced

105
Q

Describe charge syndrome

A

It is a multifactorial condition
C = Colomboma of the eye
H = heart defects
A = arteries of nasal choanea (bones at the back of the nose)
R = retardation of growth
G = genital and or urinary abnormality
E = ear problems

106
Q

What gene is the majority of patients that have charge syndrome found to have a mutation on?

A

Mutations in CHD7 on chromosome 8

107
Q

What is CHD7 involved in?

A

DNA binding and chromatin remodelling

108
Q

What is Down syndrome known as?

A

Trisomy 21

109
Q

What do 50% of downsyndromes have?

A

A congenital heart defect - mostly commonly atrioventricular septal defect (VSD)

110
Q

Describe holt syndrome

A

Caused by a mutation in TBX5, all patients have at least one abnormality, affects carpal bones of wrist - 75% of patients have heart defects

111
Q

Describe noonan syndrome

A

Mutations in of 5 different genes account for 60-80% of cases, craniofacial features, growth related or chest deformalites including cardiac abnormalities

112
Q

What are the 5 genes in Noonan syndrome?

A

PTPN11, KRAS, SOS1, RAF1, NAF1

113
Q

What are examples of single gene mutations?

A

NKX2-5 and NOTCH

114
Q

What is hypertrophic cardiomyopathy?

A

Is one of the most frequently occurring inherited cardiac disorder - it is the disease of the sarcomere caused by mutations of contractile protein genes

Cardiovascular System Module (18 decks)

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