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Systems: Cardiovascualar AB > Genetics + CV Disease > Flashcards

Genetics + CV Disease Flashcards

1
Q

What are the causes of congenital heart disease?

A
  • Chromosomal
  • Microdeletions
  • Single gene
  • Teratogens
  • Multifactorial
  • Other
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2
Q

Give examples of chromosomal causes of CHD.

A
  • Trisomies

- Monosomies

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3
Q

Give examples of microdeletion causes of CHD.

A
  • 22q deletion

- Williams

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4
Q

Give examples of single gene causes of CHD.

A
  • Noonan/CFC
  • Marfans
  • SVAS
  • Holt-Oram
  • Fanconi
  • CHARGE
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5
Q

Give examples of teratogen causes of CHD.

A
  • Rubella
  • Alcohol
  • Anti-epileptic drugs
  • Maternal Diabetes mellitus
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6
Q

Give examples of other causes of CHD.

A

VACTERL

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7
Q

What are the causes of trisomy 21?

A
  • 95% maternal non-disjunction
  • 3% translocation
  • 2% mosaic
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8
Q

What is other medical conditions are associated with Downs Syndrome?

A
  • Atrio-ventricular septal defects

- Duodenal atresia

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9
Q

How is Down’s Syndrome often identified in utero?

A
  • Measurement of nuchal translucency

- Increased nuchal translucency

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10
Q

Why are chromosome abnormalities more common in foetuses with CHD than in new-borns?

A

Many foetuses result in miscarriage and therefore never make it to term

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11
Q

What are foetuses with CHD and abnormal chromosomes associated with?

A

Cystic hygroma on scans

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12
Q

What is the genetic make up of Turner Syndrome?

A

45,X

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13
Q

What are the clinical signs of Turner Syndrome?

A
  • Coarctation of aorta
  • Short stature
  • Gonadal dysgenesis
  • Puffy hands
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14
Q

What is neck webbing?

A
  • Excess nuchal folds

- An indicator of prenatal cardiac difficulties

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15
Q

What syndromes are associated with neck webbing?

A
  • Turner
  • Noonan
  • CFC
  • Leopard
  • Costello
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16
Q

What are the clinical signs of Noonan syndrome?

A
  • Pulmonary stenosis
  • Short stature
  • Neck webbing
  • Cryptorchidism
  • Characteristic face
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17
Q

What is the cause of Noonan Syndrome?

A

PTPN11 mutation on gene on chromosome 12

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18
Q

What type of inheritance is there with Noonan syndrome?

A

-Autosomal dominant

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19
Q

What are the clinical signs of Cardio-Facio-Cutaneous syndrome?

A
  • Noonan like
  • Ectodermal problems
  • Developmental delay
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20
Q

What are the clinical signs of Leopard syndrome?

A
  • Noonan like
  • Multiple lentigenes
  • Deafness
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21
Q

What are the clinical signs of Costello syndrome?

A
  • Noonan like
  • Thickened skin folds
  • Susceptible to warts
  • Cardiomyopathy
  • Later cancer risk
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22
Q

What pathways are Noonan, Leopard, Costello, and CFC syndromes all linked to?

A

MAPK pathway (mitogen activated protein kinase pathway)

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23
Q

What are the clinical signs of 22q11 deletion syndrome?

A
  • Cardiac malformation
  • Abnormal facies
  • Thymic hypoplasia
  • Cleft palate
  • Hypoparathyroidism
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24
Q

What are the facial characteristics associated with 22q11 deletion syndrome?

A
  • Narrow eyes
  • Small mouth
  • Very floppy overfolded ears
  • Bulbus nose
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25
Q

What 2 syndromes does 22q11 encompass?

A
  • DiGeorge

- Shprintzen

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26
Q

What are the characteristics of DiGeorge syndrome?

A
  • Thymic hypoplasia
  • Hypoparathyroidism
  • Outflow tract cardiac malformation
  • Usually sporadic
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27
Q

What are the characteristics of Shprintzen syndrome?

A
  • Cleft palate/palatal insufficiency
  • Outflow tract cardiac malformation
  • Characteristic face
  • Autosomal dominant
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28
Q

What other characteristics are associated with 22q11 deletion syndrome other than CATCH?

A
  • Speech delay
  • Palatal dysfunction
  • Renal problems
  • Psychiatric conditions
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29
Q

When should an individual be tested for 22q11 deletion syndrome?

A

If there are 2 or more features present

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30
Q

What 3 psychiatric conditions are associated with 22q11 deletion syndrome?

A
  • Schizophrenia
  • Depression
  • Bipolar affective
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31
Q

Is 22q deletion a genomic disease?

A
  • There are low copy repeats

- Predisposition to deletion and translocation

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32
Q

What are the clinical signs of Williams syndrome?

A
  • Aortic stenosis
  • Hypercalcemia
  • 5th finger clindactyly
  • Characteristic face
  • Cocktail party manner
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33
Q

What is the cause of Williams syndrome?

A
  • Deletion of elastin on chromosome 7
  • Deletion of contiguous genes
  • LIM kinase
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34
Q

What are the clinical signs of foetal alcohol syndrome?

A

-Hearing loss
-Visuomotor difficulties
-Fine motor difficulties
Long philtrum
-Thin upper lip
-Increased eye spacing
-ADHD
-Small head
-Low IUGR

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35
Q

What anticonvulsants are known teratogens?

A
  • Valproate
  • Phenytoin
  • Carbamazepine
36
Q

What are the clinical signs of foetal anticonvulsant syndromes?

A
  • Characteristic face
  • Malformation patterns
  • Developmental delay
  • Common and specific features
37
Q

What model explains the increased recurrence risk of first degree relatives despite the same threshold as the normal population?

A

Multifactorial inheritance threshold model

38
Q

Which parent has more influence on their child having CHD?

A

Mother

39
Q

What is VSD associated with?

A

Folate deficiency

40
Q

What are 3 types of genetic cardiac diseases?

A
  • Cardiovascular connective tissue disease
  • Familial arrhythmias
  • Familial cardiomyopathy
41
Q

Give examples of cardiovascular connective tissue diseases.

A
  • Marfan
  • Loeys-Dietz
  • Ehlers Danlos
  • FTAA
42
Q

Give examples of familial arrhythmias.

A
  • Long QT
  • Brugada
  • CPVT
  • ARVC
43
Q

Give examples of familial cardiomyopathies.

A
  • HCM

- DCM

44
Q

What type of inheritance is Marfan syndrome?

A

Autosomal dominant

45
Q

What gene is involved in Marfans?

A
  • Fibrillin 1 gene on chromosome 15q21

- TGFBR2 on chromosome 3p22

46
Q

What is true of the Ghent 2010 criteria for a diagnosis of Marfans?

A

2 system findings that are positive

47
Q

What are the system components of the Ghent criteria?

A
  • CV system
  • Eyes
  • Systemic score >/= 7
  • Family history
  • Fibrillin 1 mutations
48
Q

What are the skeletal features of the systemic score on the Ghent criteria?

A
  • ULSR and SHR
  • Scoliosis/kyphosis
  • Pectus deformity
  • Thumb and wrist (thumb over hand/ pinky to thumb round wrist)
  • Foot/ankle (inwards bend)
  • Reduced elbow extension <170 degrees
49
Q

Apart from skeletal what are the there features of the systemic score on the Ghent criteria?

A
  • Myopia>3 dioptres
  • Mitral valve prolapse
  • Pneumothorax
  • Dural ectasia
  • Striae
  • Face
  • Protusio acetabuli
50
Q

Most features of Marfans are assessed clinically. When should additional tests be done?

A
  • ECHO mandatory

- Undertake MRI and/or pelvic X-ray where diagnosis would change if positive

51
Q

What eye condition is associated with Marfans?

A

Ectopia lentis

52
Q

What CV conditions are associated with Marfans?

A

Aortic dilation/dissection

53
Q

What is usually the first sign noticed with Marfans?

A

Tall stature

54
Q

When should you do a genetic test in suspected index case of Marfans?

A

When a positive result would change the diagnosis

55
Q

What must be true of the Ghent criteria to make a positive diagnosis of Marfans?

A
  • 2 major features
  • 1 major and 2 minor features
  • Ghent score of 7 or over
56
Q

Give examples of Marfan like syndromes.

A
  • Loeys-Dietz syndrome
  • Marfan syndrome type 2
  • Familial thoracic aortic aneurysms
  • MASS phenotype
57
Q

What is Loeys-Dietz syndrome associated with?

A
  • Arterial dissection
  • Tortuosity
  • Bifid uvula/cleft palate
  • Hypertelorism
  • Skin and skeletal findings
58
Q

What is MASS phenotype associated with?

A
  • Myopia
  • Mitral valve prolapse
  • Mild aortic dilatation
  • Striae
  • Minor skeletal involvement
59
Q

What is the optimal management for Marfans?

A

At least annual clinical review:

  • ECHO
  • B blockers
  • Angiotensin II receptor blocker
  • Prophylactic aortic surgery if Sinus of Valsalva exceeds 5.5cm or 5% growth per year
  • Monitor aortic root frequently in pregnancy if diameter exceeds 4cm
60
Q

Why should B blocker therapy be considered in all Marfan patients?

A

To slow the rate of dilatation

61
Q

What are the pros and cons of mechanical valves?

A

Pros
-Lasts longer
Cons
-Needs warfarin

62
Q

What are the pros and cons of valve sparing procedures?

A

Pros
-No warfarin
Cons
-May need reoperation

63
Q

What is another name of long QT syndrome?

A

Romano-Ward syndrome

64
Q

What is the pathophysiology of long QT syndrome?

A

Myocytes take longer to recover than they should

65
Q

What is seen on ECG of long QT syndrome?

A
  • Prolonged QT interval
  • Repolarisation anomalies (T/U waves)
  • Paroxysmal polymorphic VT
66
Q

What are the manifestations of long QT syndrome?

A
  • Syncope
  • Seizure
  • Sudden death
67
Q

What can trigger long QT syndrome?

A
  • Emotion
  • Exercise
  • Drugs
68
Q

How does Jervell Lange-Neilsen differ from long QT syndrome?

A

Includes congenital sensorineural deafness

69
Q

What is the genotype prediction of normal/broad T wave precipitated by exercise, in particular swimming?

A

KCNQ1

70
Q

What is the genotype prediction for notched T wave precipitated by noise/arousal such as a telephone or alarm clock?

A

KCNH2

71
Q

What is the genotype prediction for biphasic T waves precipitated by sleep/ bradycardia?

A

SCN5A

72
Q

What is included in genetic testing for LQT in Scotland?

A

Full mutation screening of:

  • KCNQ1
  • KCNH2
  • SCN5A
  • KCNE1
  • KCNE2
73
Q

What is the treatment for LQT?

A
  • 1/2, 5/6 B blockers, nicorandil

- 3 mexilitene/lidocaine/ICD

74
Q

What is Brugada syndrome associated with?

A
  • Right bundle branch block
  • QT normal
  • ST elevation in leads 1-3
  • Episode VT/VF
  • Rest and sleep
  • Also SCN5A associated
75
Q

What is the prevalence of hypertrophic cardiomyopathy?

A

1/500

76
Q

What is associated with arrythmogenic right ventricular cardiomyopathy?

A
  • Effort induced polymorphic tachycardia (LBBB pattern)
  • Right ventricular cardiomyopathy
  • T wave inversion V2-3 on resting ECG
  • Disordered cell junctions
77
Q

What type of inheritance is associated with ARVC?

A

Autosomal dominant

78
Q

What genes are involved in ARVC?

A
  • Plakophilin 2
  • Desmoglein 2
  • Desmoplakin
  • Desmocollin 2
  • Plakoglobin
  • TMEM43
  • TGRB3
  • RYR2
79
Q

What history is associated with dilated cardiomyopathy?

A

Syncope or pre-syncope compatible with tachy or brady arrhythmia, or evidence of arrhythmia on ECG investigation

80
Q

What conditions should be excluded when diagnosing dilated cardiomyopathy?

A

-Ischaemic heart disease
-Hypertension
-Skeletal muscle disease
-Alcohol abuse
-Exposure to cardio toxic drugs
Haemochromatosis

81
Q

When should mitochondrial disorder be considered when diagnosing dilated cardiomyopathy?

A

If there is:

  • Diabetes
  • Deafness
  • Retinitis pigmentosa
  • Skeletal muscle disease
  • Growth retardation
  • Cognitive disorder
82
Q

What family history should be evident with dilated cardiomyopathy?

A

FH of cardiomyopathy or sudden cardiac death compatible with cardiomyopathy

83
Q

What may genetic testing of dilated cardiomyopathy include?

A
  • LMNA
  • SCN5A
  • Dystrophin
  • Sarcomere genes
84
Q

What is cascade screening?

A
  • Do a 3 generation family history

- Arrange ECGs for 1st degree relatives

85
Q

What does cardiac genetics involve?

A
  • Diagnosis in proband (cardiac phenotype and genetic testing)
  • Family history
  • Assess relatives
  • Cascade screening of relatives
  • Prevention of avoidable morbidity and mortality

Systems: Cardiovascualar AB (42 decks)

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