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

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

(46 cards)

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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

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A

Deletion of Elastin on chromosome 7

Deletion of contiguous genes

20
Q

What are the teratogens that can cause congenital heart disease

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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

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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

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A

Similar methylation

23
Q

What is the cardiovascular effect of folate deficiency for the foetus

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A

Ventricular septal defect

24
Q

What is the different multifactorial inheritance

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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
What is the different genetic cardiac disease
Cardiovascular connective tissue disesse Familial Arrhythmias familial cardiomyopathy
26
What is examples of Cardiovascular connective tissue disesse
Marfan
27
What is the presentation of marfan
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
What kind of disorder is marfan syndrome
Autosomal dominant Multisystem Connective tissue
29
What is the cause of marfan syndrome
mutation in the fibril 1 gene on chromosome 15q21
30
What is marfan diagnosed by
Ghent 2010 criteria Cardiovascular - aortic dilation/dissection Eyes – ectopia lentis Family history Fibrillin 1 mutation Systemic score ≥ 7
31
What is the congenital heart defects causes by marfan
aortic root dilatation aortic dissection mitral valve prolapse (regurgitation)
32
What does the systemic score investigate in Ghent criteria
``` Skeletal Skin Respiratory Dural ectasia Mitral valve prolapse Myopia ```
33
What test is mandatory in every marfan diagnosis
Echocardiography mandatory in every case
34
What testing is important when only a few of the main diagnostic features are present
Genetic test for Fibrillin 1 mutation
35
What further investigation confirm marfan syndrome
ECHO Lumbar spine MRI Pelvic x-ray
36
What therapy should be considered for marfan
β blockers - all patients Angiotensin II Receptor Blockers Aortic root surgery - either repair or replace
37
When would aortic root surgery be considered
prophylaticlly if Sinus of Valsalva exceeds | 5.5 cm or 5% growth per year
38
In aortic root surgery, what is the benefit and disadvantage of replacing valve with mechanical valve
Adv. - lasts longer | Dis. - Need to take warfarin
39
What is the benefit and disadvantage of a valve sparing procedure in aortic root surgery
Adv - no warfarin required | Dis - may need to re-operate
40
What is two inherited genetic cardiac problems
Familial arrhythmia | Familial cardiomyopathy
41
What is examples of Familial arrhythmias
Long QT syndrome (romano-ward syndrome) | Brugada syndrome
42
What is the clinical features of familial arrhythmias
Syncope seizure sudden death arrhythmias precipitated by emotion, exercise and drugs
43
What is the treatment for Long QT syndrome
Beta blockers Nicrorandil Lidocaine
44
What occurs in familial cardiomyopathy
Myocytes end up very disordered and increase the risk of arrhythmia and sudden death is very common
45
What does genetic testing include in screening for cardiomyopathy
LMNA, SCN5A, dystrophin, sarcomere genes
46
What is cascade screening
screening of 3 generation family using an ECG and genetic testing

Cardiovascular system SA (43 decks)

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