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Cardiovascular system SA > Congenital Heart Disease Genetic Heart Disease***** > Flashcards

Congenital Heart Disease Genetic Heart Disease***** Flashcards

1
Q

What is the causes of congenital heart disease

A

Chromosomal (number)

Microdeletions

Single nucleotide variation

Teratogens

Other: VACTERL

Multifactorial: isolated CHD

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2
Q

What is examples of NUMERICAL chromosomal causes of congenital heart disease

A

Down syndrome

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3
Q

What congenital defect is present in down syndrome

A

atrio-ventricular septal defects

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4
Q

What is a mendelian disorder of single nucleotide variation resulting gin congenital heart problems

A

Turner 45X

Noonan syndrome

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5
Q

What is the congenital heart disease in turner syndrome

A

Coarctation of aorta

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6
Q

What is the presentation of turner syndrome

A

short stature

gonadal dysgenesis (progressive loss of germ cells on the developing gonads of an embryo)

puffy hands

Neck webbing

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7
Q

What is the mutational cause in tuners syndrome and what does increases the risk of

A

mosaic karyotype 45X

increased risk of ovarian cancer

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8
Q

What is the congenital heart disease in Noonan syndrome

A

Pulmonary stenosis

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9
Q

What is the mutation in Noonan syndrome

A

Autosomal Dominant

PTPN11 mutation

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10
Q

What is the presentation of Noonan syndrome

A

Short stature
neck webbing
cryptorchidism
characteristic face

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11
Q

What is two examples of micro deletions that cause congenital heart disease

A

2q11 deletion syndrome

Williams syndrome

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12
Q

What is the presentation of 22q11 deletion syndrome

A 
C ardiac malformation
A bnormal facies
T hymic hypoplasia
C left palate
H ypoparathyroidism
22
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13
Q

What kind of disease is 22q11 deletion syndrome

A

Usually sporadic autosomal dominant

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14
Q

When would you test for 22Q11 deletion syndrome

A

when two or more features are present

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15
Q

What are the potentially psychiatric problems with 22Q11 deletion syndrome

A

schizophrenia
Depression
Bipolar affective

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16
Q

Why is 22Q deletion a genomic disease

A

as a low copy number repeats, therefore the chromosomes being replicated pair up with each other giving a predisposition to deletion and translocation

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17
Q

What is the congenital heart disease in williams syndrome

A

aortic stenosis

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18
Q

What is the further presentation of williams syndrome

A

Hypercalcemia
5th finger clinodactyly
characteristic face
cocktail party manner

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19
Q

What cause of Williams syndrome

A

Deletion of Elastin on chromosome 7

Deletion of contiguous genes

20
Q

What are the teratogens that can cause congenital heart disease

A

Fetal alcohol syndrome
anti epileptic drugs
rubella - affects back and lower limbs
maternal diabetes mellitus

21
Q

What is the characteristic of fetal alcohol syndrome

A

characteristic face - Spacing between the eyes
thin lips

developmental delay (ADHD)

Hearing loss

fine motor difficulties

cardiac malformation

22
Q

Why does fetal anticonvulsant syndrome (anti epileptics) similar to metal alcohol syndrome

A

Similar methylation

23
Q

What is the cardiovascular effect of folate deficiency for the foetus

A

Ventricular septal defect

24
Q

What is the different multifactorial inheritance

A

Aortic Stenosis

Patient Ductus Arteriolus - persistent opening between two major blood vessels leading from the heart

Atrial Septal Defect
Ventricular septic defect
Pulmonary Stenosis
Tetralogy of Fallot

25
Q

What is the different genetic cardiac disease

A

Cardiovascular connective tissue disesse

Familial Arrhythmias

familial cardiomyopathy

26
Q

What is examples of Cardiovascular connective tissue disesse

A

Marfan

27
Q

What is the presentation of marfan

A

Tall stature

Dural ectasia - ballon in spinal chord

arachnodactyly - long digits

Scoliosis

pectus carinatum

Pneumothorax

Lens subluxation/ectopia lentis

Abnormal facies

Mild aortic root dilatation

28
Q

What kind of disorder is marfan syndrome

A

Autosomal dominant
Multisystem
Connective tissue

29
Q

What is the cause of marfan syndrome

A

mutation in the fibril 1 gene on chromosome 15q21

30
Q

What is marfan diagnosed by

A

Ghent 2010 criteria
Cardiovascular - aortic dilation/dissection

Eyes – ectopia lentis

Family history

Fibrillin 1 mutation

Systemic score ≥ 7

31
Q

What is the congenital heart defects causes by marfan

A

aortic root dilatation

aortic dissection

mitral valve prolapse (regurgitation)

32
Q

What does the systemic score investigate in Ghent criteria

A 
Skeletal
Skin
Respiratory
Dural ectasia
Mitral valve prolapse
Myopia
33
Q

What test is mandatory in every marfan diagnosis

A

Echocardiography mandatory in every case

34
Q

What testing is important when only a few of the main diagnostic features are present

A

Genetic test for Fibrillin 1 mutation

35
Q

What further investigation confirm marfan syndrome

A

ECHO
Lumbar spine MRI
Pelvic x-ray

36
Q

What therapy should be considered for marfan

A

β blockers - all patients
Angiotensin II Receptor Blockers
Aortic root surgery - either repair or replace

37
Q

When would aortic root surgery be considered

A

prophylaticlly if Sinus of Valsalva exceeds

5.5 cm or 5% growth per year

38
Q

In aortic root surgery, what is the benefit and disadvantage of replacing valve with mechanical valve

A

Adv. - lasts longer

Dis. - Need to take warfarin

39
Q

What is the benefit and disadvantage of a valve sparing procedure in aortic root surgery

A

Adv - no warfarin required

Dis - may need to re-operate

40
Q

What is two inherited genetic cardiac problems

A

Familial arrhythmia

Familial cardiomyopathy

41
Q

What is examples of Familial arrhythmias

A

Long QT syndrome (romano-ward syndrome)

Brugada syndrome

42
Q

What is the clinical features of familial arrhythmias

A

Syncope
seizure
sudden death
arrhythmias precipitated by emotion, exercise and drugs

43
Q

What is the treatment for Long QT syndrome

A

Beta blockers
Nicrorandil
Lidocaine

44
Q

What occurs in familial cardiomyopathy

A

Myocytes end up very disordered and increase the risk of arrhythmia and sudden death is very common

45
Q

What does genetic testing include in screening for cardiomyopathy

A

LMNA,
SCN5A,
dystrophin,
sarcomere genes

46
Q

What is cascade screening

A

screening of 3 generation family using an ECG and genetic testing

Cardiovascular system SA (43 decks)

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