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Cardiovascular > Pediatric Cardio > Flashcards

Pediatric Cardio Flashcards

1
Q

Genotype

A

the total genetics information of an organism

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2
Q

Phenotype

A

the physical manifestation of the genetic information

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3
Q

Homozygous

A

having two identical alleles of a particular gene

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4
Q

Heterozygous

A

two different alleles of a particular gene or genes

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5
Q

Hemizygous

A

having only one single copy of a gene instead of two

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6
Q

Aneuploidy

A

an abnormal number of chromosomes

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7
Q

Gene

A

a functional unit of the genome that contains the genetic information for one or more gene products

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8
Q

Allele

A

one of two or more variants of a gene

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9
Q

Polymorphism

A

a genetic variant where the rarer allele in a population occurs with a frequency of at least 1%

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10
Q

SNP

A

single nucleotide polymorphism: a polymorphism where alleles vary at one base

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11
Q

Mutation

A

the occurrence of a change in the genomic sequence and the result of the change that is usually disease related

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12
Q

What is the first functional organ to develop?

A

the heart

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13
Q

When does the heart start pumping blood?

A

3 weeks

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14
Q

What embryonic layer does the heart derive from?

A

mesodermal germ layer

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15
Q

How does the germ layer differentiate?

A

mesothelium, endothelium, and myocardium

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16
Q

What forms the outer layer of the heart?

A

mesothelium pericardium

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17
Q

What forms the inner lining of the heart?

A

endocardium

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18
Q

What develops the endothelium?

A

lymphatic and blood vessels

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19
Q

When does congenital heart failure occur?

A

3-8 weeks

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20
Q

What are some of the most common heart defects?

A

ASD
VSD
AVSD

21
Q

What are some risk factors for CHD?

A

uncontrolled diabetes
family history
infection
smoking
diet
alcohol
illicit drug use
dilantin
thalidomide
ACE inhibitors
Lithium

22
Q

What are some causes of CHD?

A

Chromosomal
Deletion
Single Gene Disorders

23
Q

What are some Chromosomal examples that that cause CHD?

A

Aneuploidy
Trisomy – down syndrome
Tuner Syndrome

24
Q

What are some deletion examples that that cause CHD?

A

DiGeorge Syndrome
Williams Syndrome

25
Q

What are some Single Gene Disorder examples that that cause CHD?

A

Marfan syndrome
Fetal Alcohol Syndrome

26
Q

Which primitive area will give right to the right ventricle?

A

Bulbous cordis

27
Q

Which of the following does not include four components of TOF?

A

Coarctation

28
Q

What are some complications of Fetal Alcohol Syndrome?

A

Adhd
Alcohol drug misuse

29
Q

What is fetal alcohol syndrome?

A

Alcohol exposure during the mother’s pregnancy

30
Q

Where does FAS occur genetically?

A

22q11 region to rule out deletion

31
Q

What are symptoms of FAS?

A

Brain damage
Growth problem
Cardiovascular VSD, PDA, ASD, TOF

32
Q

What is the genetic error in Tuner Syndrome?

A

X is missing or incomplete

33
Q

What is a dental implication of Tuner Syndrome?

A

High arched palate
Crowding
Malocclusion

34
Q

When do you notice Tuner Syndrome?

A

around age 5

35
Q

Who does Tuner syndrome affect?

A

females

36
Q

Where can a cardiovascular abnormality be seen in Tuner syndrome?

A

the bicuspid aortic valve

37
Q

Do females with Tuner Syndrome undergo puberty?

A

No

38
Q

What is DiGeorge Syndrome?

A

o Microdeletion of chromosome 22q11.2

CATCH 22

39
Q

What is the Catch 22 associated with DiGeorge Syndrome?

A

C – Cardiac defects
A – abnormal facial features
T – thymic hypoplasia
C – cleft palate
H – hypocalcemia

40
Q

What are some clinical presentations of DiGeorge Syndrome?

A

Cleft palate
Hypocalcemia
Thymic hypoplasia

41
Q

What is the most common CCHD

A

Tetralogy of fallot

42
Q

What does Tetralogy of fallot look like?

A

boot shaped heart due to its upturned apex due to right ventricular hypertrophy and a concave pulmonary arterial segment

43
Q

what are the 4 components of TOF?

A

P – pulomary infundilbular sentonsis
R – right ventricular hypertrophy
O – Overriding aorta
V - VSD

44
Q

What is Williams Syndrome?

A

7q11.23 deletion

45
Q

What are clinical presentations of Williams Syndrome?

A

Learning disabilities
Heavy sagging cheeks
Poor bow of lip
Eln gene (elastin)

46
Q

What are the characteristics of Marfan Syndrome?

A

low levels of fibrillin

FBN1 GENE on chromosome 15, codes for fibrillin

Long arms, legs, fingers, and toes

47
Q

What is Marfan Syndrome?

A

An autosomal dominant disease

48
Q

What are symptoms of Marfan syndrome?

A

aortic root bulge (aneurysm or tear (dissection)
MV prolapse (regurgitation)
ectopic lentils

Cardiovascular (5 decks)

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