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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
What are some Single Gene Disorder examples that that cause CHD?
Marfan syndrome Fetal Alcohol Syndrome
26
Which primitive area will give right to the right ventricle?
Bulbous cordis
27
Which of the following does not include four components of TOF?
Coarctation
28
What are some complications of Fetal Alcohol Syndrome?
Adhd Alcohol drug misuse
29
What is fetal alcohol syndrome?
Alcohol exposure during the mother’s pregnancy
30
Where does FAS occur genetically?
22q11 region to rule out deletion
31
What are symptoms of FAS?
Brain damage Growth problem Cardiovascular VSD, PDA, ASD, TOF
32
What is the genetic error in Tuner Syndrome?
X is missing or incomplete
33
What is a dental implication of Tuner Syndrome?
High arched palate Crowding Malocclusion
34
When do you notice Tuner Syndrome?
around age 5
35
Who does Tuner syndrome affect?
females
36
Where can a cardiovascular abnormality be seen in Tuner syndrome?
the bicuspid aortic valve
37
Do females with Tuner Syndrome undergo puberty?
No
38
What is DiGeorge Syndrome?
o Microdeletion of chromosome 22q11.2 CATCH 22
39
What is the Catch 22 associated with DiGeorge Syndrome?
C – Cardiac defects A – abnormal facial features T – thymic hypoplasia C – cleft palate H – hypocalcemia
40
What are some clinical presentations of DiGeorge Syndrome?
Cleft palate Hypocalcemia Thymic hypoplasia
41
What is the most common CCHD
Tetralogy of fallot
42
What does Tetralogy of fallot look like?
boot shaped heart due to its upturned apex due to right ventricular hypertrophy and a concave pulmonary arterial segment
43
what are the 4 components of TOF?
P – pulomary infundilbular sentonsis R – right ventricular hypertrophy O – Overriding aorta V - VSD
44
What is Williams Syndrome?
7q11.23 deletion
45
What are clinical presentations of Williams Syndrome?
Learning disabilities Heavy sagging cheeks Poor bow of lip Eln gene (elastin)
46
What are the characteristics of Marfan Syndrome?
low levels of fibrillin FBN1 GENE on chromosome 15, codes for fibrillin Long arms, legs, fingers, and toes
47
What is Marfan Syndrome?
An autosomal dominant disease
48
What are symptoms of Marfan syndrome?
aortic root bulge (aneurysm or tear (dissection) MV prolapse (regurgitation) ectopic lentils

Cardiovascular (5 decks)

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