Genetics and the CVS Flashcards by Marysia Thomson | Brainscape

Q

Down syndrome

A

trisomy 21

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Q

15% of down syndrome patients have

A

atrio-ventricular defects

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Q

Cystic hygroma

A

congenital lymphatic lesion

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Q

…..% of newborns with CHD have abnormal chromosomes

A

19

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Q

Turner syndrome

A

45, X

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Q

Turner syndrome symptoms

A

coarctation of aorta

short status

gonadal dysgenesis

puffy hands

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Q

Excess nuchal fold (neck webbing) can be a prenatal indicator of?

A

turner syndrome

Noonan syndrome

CFC syndrome

Leopard syndrome

costello syndrome

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Q

coarctation of aorta

A

the narrowing of the aorta

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Q

45, X

A

turner syndrome

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Q

21 trisomy

A

down syndrome

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Q

CFC syndrome

A

cardio-facio cutaneous

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Q

Noonan Syndrome symptoms

A

pulmonary stenosis

short stature

neck webbing

cryptorchidism

characteristic face

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Q

Cardio-facio cutaneous symptoms

A

Noonan-like symptoms

ectodermal problems

developmental delay

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Q

leopard syndrome

A

noonan-like symptoms

deafness

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Q

costello syndrome symptoms

A

Noonan-like symtoms

thickened skin folds

warts

cardiomyopathy

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Q

cardiomyopathy

A

group of heart dieases

Q

22q11 deletion syndrome

CATCH22

A

cardiac malformation

abnormal facies

thymic hypoplasia

cleft palate

hypoparathyroidism

22q11 deletion

Q

22q11 deletion syndromeencompasses what two syndromes?

A

DiGeorge syndrome

Shprintzen syndrome

Q

Williams Syndrome

A

aortic stenosis

hypercalcemia

5th finger clindactyly

characteristic face

cocktail party manner

Q

williams syndrome is due to a

A

deletion of elastin on chromosome 7

Q

List of teratogens

A

fetal alcohol syndrome

anti epileptic drugs

rubella

maternal diabetes

Q

VSD

A

ventricular septal defect

Q

Marfan syndrome

A

autosomal dominant

multisystem

tall stature

Q

Marfan syndrome is the result of

A

fibrillin 1 gene

chromosome 15q21

Q

Diagnosis of Marfan

Ghent criteria

A

Aortic dilatation or dissection

ectopic lentis

systemic score of less than 7

fibrillin 1 (mutation in the gene)

family history (someone in family defo has it)

Q

Optimal management of Marfan syndrome

A

echo

beta blockers

angiotensin II receptor blockers

aortic surgery

Q

3 Marfan-like syndromes

A

Loeys-dietz syndrome

familial thoracic aortic aneurysms

MASS phenotype

Q

romano ward syndrome

A

the most common form of long QT syndrome

Q

romano ward symptoms

A

syncope

‘seizure’

sudden death

Q

romano ward causes can be

A

emotion

drugs

exercise

Q

romano ward ECG will show a

A

prolonged QT interval

depolarisation anomalies

Q

Brugada syndrome ECG is

A

prolonged PR interval

usually results in sudden cardiac death

Q

Hypertrophic cardiomyopathy prevalence is

A

1 in 500

Q

Hypertrophic cardiomyopathy

A

myocardium is abnormally thick

can sometimes have abnormal sarcomere