Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Cardiovascular system > Congenital and genetic defects > Flashcards

Congenital and genetic defects Flashcards

1
Q

What can cause congenital heart diseases?

A

Causes are often unknown, they might include infections, certain drugs, genetic conditions

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Give example of some main congenital malformations

A

coarctation of aorta, transposition of the main vessels, septal defects, valve defects

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What are the two main types of genetic causes ?

A

Copy number variation, single gene disorders

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Give example of chromosomal cases ?

A

Down syndrome, Turner’s syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Give example of single gene causes ?

A

Marfan’s syndrome, Noonan, Fanconi, CHARGE group of disorders

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Give some examples of teratogens

A

Rubella, alcohol, anti-epileptics, maternal diabetes mellitus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What are the causes of Down syndrome ?

A

Nondisjunction of maternal chromosome 21, transaction is more rare

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What is the main cardiovascular congenital abnormality in Down syndrome ?

A

AV septal defects

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What are the health problems associated with Down syndrome?

A

duodenal atresia (absence or failure of closure of lumen), intellectual disability, heart defects, hypothyroidism, celiac disease, eye conditions, respiratory infections, constipation, depression, behavioural problems such as ADHD, autism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What are the physical features of Down syndrome?

A

reduced muscle tone and floppiness, small nose and nasal bridge, small moth with protruding tongue, small ears, slanted eyes, flat back of head, broad hands with short fingers, short statue, show growth, wide neck

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Describe the screening for Down syndrome

A

It involves measuring the nuchal translucency, it is increased compared to healthy babies, the bigger the higher risk of Down syndrome, it is also increased in other conditions such as DI George syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is cystic hygroma ?

A

Collection of fluid -filled sacs (cysts) that results from malformation of lymphatic system, it is also associated with congenital heart diseases

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What Is Turner’s syndrome ?

A

Condition where one sex chromosome is missing, 45X, affects females only, they can be mosaic, some cells have full set of chromosomes, but very often it is XY rather than XX

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is the congenital malformation associated with Turner’s syndrome?

A

Coarctation of aorta

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What other features are characteristic for Turner’s syndrome?

A

short statue, puffy hands, gonadal dysgenesis, infertility, neck webbing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

In which syndromes is neck webbing present?

A

In Turner syndrome, Noonan syndrome, Leopard syndrome, CFC syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What is Noonan syndrome?

A

Syndrome similar to Turner’s that affect both males and females, the most common mutation is in PRPN11 gene on chromosome 12

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Where does the mutation occurs in Noonan syndrome?

A

AT chromosome 12, autosomal dominant, most commonly on gene PRPN11

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What cardiac abnormality is associated with Noonan’s syndrome?

A

Pulmonary stenosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What are the characteristic features of Noonan’s syndrome?

A

broad forehead, drooping eyelids, wider distance between eyes, short statue, pectus exavatum, neck webbing, crytochidism (absence of testes), male infertility can occur

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What is CFC syndrome?

A

Cardio-facio-cutaneuos syndrome, it is Noonan like, but there are also ectodermal problems

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What is Leopard syndrome?

A

Also Noonan like, but there are also multiple lentigines and deafness, abnormalities of genitalia, ocular hypertension

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What is Costello syndrome?

A

Also Noonan like, but it also has thickened skin folds, susceptible to warts, increased chance of cancer later in life and cardiomyopathy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What syndromes are associated with pulmonary stenosis?

A

Noonan, Leopard, CFC, Costello

25
Q

What syndrome is associated with cardiomyopathy ?

A

Costello syndrome

26
Q

What is 22q11 deletion syndrome?

A

It is syndrome that occurs due to deletion of small section on chromosome 22 at position 11

27
Q

What are the characteristic signs of the 22q11 deletion?

A

CATCH 22, cardiac malformations, abnormal facies, thyme hypoplasia, cleft palate, hypoparathyroidism, 22 q11 deletion, small moth, floppy and overfilled ears, long nose, gap in the roof of the mouth, also associated with psychotic disorders such as schizophrenia, depression, bipolar affective disorders, tetralogy of fallot

28
Q

What other names have been used previously for this disorder ?

A

DiGeorge and velocardiofacial disorder

29
Q

What cardiac malformation is associated with 22q11 deletion?

A

Tetralogy of fallot (ventricular septal defect, right ventricular outflow tract is enlarged, hypertrophy of right ventricle,aorta disposition)

30
Q

What is William’s syndrome?

A

Syndrome in which there is deletion of about 27 genes on chromosome 7, including gene coding for elastin

31
Q

What cardiac features are present in William’s syndrome?

A

Supravulvar aortic stenosis

32
Q

What are other features characteristic of William syndrome?

A

hypercalcaemia, characteristic face, broad forehead, short nose, full checks, board mouth, lightly coloured eyes, cocktail party manner, intellectual disabilities, 5th finger clinodactyly

33
Q

What is foetal alcohol syndrome?

A

Syndrome with mental and physical problems that arise if mothers drink more than 3-5 units of alcohol a week during pregnancy

34
Q

What are the characteristic features of babies with foetal alcohol syndrome?

A

small head circumference, poor growth, small eyes, thin upper lip, smooth area between nose and upper lip, can have cerebral palsy, autism, learning difficulties, problems with kidneys, hearing, vision

35
Q

What are the drugs that are commonly involved in anticonvulsant syndrome?

A

carbazepine, phenytoin, valprolate

36
Q

Which cardiac defect is associated wit folate deficiency?

A

ventricular septal defect

37
Q

Name the most commonly inherited cardiac conditions

A

cardiomyopathies hypertrophic and dilated, long QT syndrome, familial hypercholesterolaemia, arrhythmias, congenital heart defects, Marfans syndrome

38
Q

What is the inheritance pattern of Marfans syndrome?

A

autosomal dominant, affects multiple systems

39
Q

What are the typical signs of Marfan’s syndrome ?

A

tall stature, abnormally long and slender limbs, fingers and toes, arachnodactyly, extopia lentis, lens subluxation, pectus carinatum

40
Q

What cardiology signs are common in Marfans syndrome?

A

Aortic dissection or dilation, mitral valve prolapse

41
Q

What criteria are used for Mrfan’s syndrome diagnosis ?

A

Ghent 2010 criteria, need 2 positive system findings for diagnosis (CVS, eyes, systemic, gene mutation, family history )

42
Q

What are the cardiovascular signs of Ghent criteria ?

A

Aortic dissection or dilation

43
Q

What are the eye signs in Ghent criteria?

A

Ectopia lentis, upward dislocation of lens

44
Q

What are the systemic signs in Ghent criteria?

A

scoioosis, kyphosis, pectus exavatum or carinatum, deformity of chest, foot, ankle, reduced elbow extension, thumb sign, wrist sign, protrusion of acceptable, striae, pneumothorax, dural equates, mitral valve prolapse, myopia

45
Q

What acronym can be used to remember the signs of Marfans syndrome?

A

MARFANS Mitral prolapse, Aortic aneurysm or disection, Retinal detachment, Flexible joints and fibrillin 1 mutation, Arachnodactyly, No response to nitroprusside effect, Sublexation of lens and scoliosis

46
Q

What investigations are done for Marfans syndrome?

A

ECG, ECHO, MRI, pelvic X ray, genetic test for fibrillin 1, opthamological examination

47
Q

Name Marfan’s like syndromes

A

MASS phenotype, Loeys -Dietz syndrome, Marfan’s syndrome type 2, familial thoracic aortic aneurysm

48
Q

What is the management of Marfan’s syndrome?

A

Annual monitoring with ECHO, beta blockers, ARB inhibitors, prophylactic aortic surgery

49
Q

What is long QT syndrome (Romano-Ward syndrome)?

A

Syndrome where myocytes take longer to recover than they should, due to channelopathies

50
Q

What are the signs of long QT syndrome?

A

Syncope, seizures, sudden death, happens on emotional stress, exercise, drugs

51
Q

What are the three types of T wave that can be present in long QT syndrome?

A

Normal/broad, notched and biphasic

52
Q

What does precipitate broad T wave?

A

exercise particularly swimming

53
Q

What does precipitate notched T wave?

A

Noise, arousal, telephone, alarm, ring

54
Q

What does precipitate biphasic T waves ?

A

Sleep , bradycardia

55
Q

Name the cardiac conditions that are heritable

A

Marfan’s syndrome, long QT syndrome, Brugada syndrome, hypertorphic cardiomyopathy, dilated cardiomyopathy, arrhytmogenic right ventricular cardiomyopathy

56
Q

What is Brugada syndrome?

A

Syndrome with abnormally rapid rhythm, can cause palpitations, seizures, can be fatal, there is RBBB, can cause episodic ventricular tachycardia or fibrillation, can be treated by beta blockers and implanted defibrillator

57
Q

What is hypertrophic cardiomyopathy?

A

Enlargement of heart muscles due to mutations for sarcomere, can be mono allelic or diabolic, can cause sudden death especially if present and diagnosed from early age

58
Q

What is arrhythmogenic right ventricular cardiomyopathy?

A

Condition where heart muscle is very thin and stretched, problems with proteins in the heart muscle with desmosomes, caused by mutation in one or more genes, it is autosomal dominant, leads to polymorphic tachycardia

59
Q

What is dilated cardiomyopathy?

A

Condition of dilation of heart muscle, symptoms include syncope, pre-syncope, mutation in sarcomere or dystrophin genes

Cardiovascular system (18 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions