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Cardiovascular System > Genetics & Cardiovascular Disease > Flashcards

Genetics & Cardiovascular Disease Flashcards

1
Q

What is Trisomy 21?

What causes it?

A

Down’s syndrome

Additional chromosome 21 (i.e. 3 of chromosome 21)

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2
Q

What are the congenital defects associated with Down’s syndrome?

A
  • AVSD (artio-ventricular septal defects)

- duodenal atresia

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3
Q

What is duodenal atresia?

A
  • congenital absence or complete closure of a portion of the lumen of the duodenum.
  • increases levels of amniotic fluid during pregnancy (polyhydramnios) and intestinal obstruction in newborn babies.
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4
Q

What is nuchal translucancy?

What does it indicate?

A
  • sonographic appearance of a collection of fluid under the skin behind the fetal neck in the first-trimester of pregnancy.
  • indicative of chromosomal abnormality
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5
Q

What is a cystic hygroma?

A
  • fluid-filled sac that results from a blockage in the lymphatic system
  • commonly located in the neck or head area.
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6
Q

What is (45, X)?

Who is affected by this syndrome?

A

Turner’s syndrome

females only

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7
Q

What are the congenital defects associated with Turner’s syndrome?

(5)

A
  • short stature
  • neck webbing (excess nuchal folds)
  • coarctation of the aorta
  • gonadal dysgenesis
  • puffy hands
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8
Q

What are the congenital defects often associated with Noonan’s syndrome?

(5)

A
  • pulmonary stenosis (CHD)
  • short stature
  • mild unusual facial features
  • neck webbing
  • cryptorchidism (failure of testicle descent)
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9
Q

What are some of the congenital abnormalities associated with 22q11 syndrome?

(5)

A

CATCH

Congenital abnormalities
Abnormal facial features
Thymic hypoplasia (under developed)
Cleft palate
Hypothyroidism
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10
Q

22q11 deletion syndrome encompasses both ________ and _________ syndromes.

A

DiGeorge

Shprintzen

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11
Q

What are the characteristic features and congenital abnormalities associated with William’s syndrome?

(5)

A
  • aortic stenosis
  • characteristic face
  • clinodactyly (5th finger/toe)
  • cocktail party syndrome
  • hypercalcaemia
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12
Q

Give example of some teratogens which can lead to congenital heart disease.

(4)

A
  • alcohol (fetal alcohol syndrome)
  • antiepileptic drugs
  • rubella
  • maternal DM
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13
Q

Explain the multifactorial threshold model (in terms of the bell curve distribution).

A
  • the shaded under the curve to the right of the threshold line represents population affected by congenital defects
  • the curve for first-degree relatives is shifted to the right thus the shaded area to the right of the threshold also increases, more chance of congenital abnormality.
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14
Q

A child of an affected ________ is at risk of inheriting aortic stenosis.

A

mother

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15
Q

What is folate deficiency associated with?

A

VSD

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16
Q

Outline some genetic cardiac disease which cause connective tissue disease?

(3)

A
  • Marfan’s syndrome
  • Ehlers Danlos
  • Loeys-Dietz
17
Q

What pattern of inheritance does Marfan’s syndrome have?

A

autosomal dominant - affected individual has one copy of a mutant gene and one normal gene on a pair of autosomal chromosomes.

18
Q

What causes Marfan’s syndrome?

A

mutation in FBN1 gene, a gene that makes fibrillin which results in abnormal connective tissue.

19
Q

What are the physical characteristics of a person with Marfan’s sydnrome?

(5)

A
  • affects males and females
  • tall and thin
  • long arms, legs, fingers and toes
  • flexible joints
  • scoliosis
20
Q

What are the congenital abnormalities associated with Marfan’s syndrome?

A
  • heart: mitral valve prolapse
  • aorta: aortic aneurysm
  • other affected areas: bone, eyes and lungs
21
Q

Diagnosis of Marfan’s syndrome requires two positive findings from a set criteria.

What is in this criteria?

A
  • FHx (with/without)
  • aortic dissection/dilation
  • ectopia lentitis (malposition of the eye’s crystalline lens from its normal location)
  • FBN1 mutation
  • Systemic score (skeletal, skin, respiratory, dural ectasia, mitral valve prolapse, myotpia_
22
Q

When should you do a genetic test (FBN1) in a suspected index case?

A

When a positive result would change the diagnosis:

  • cases with a single major feature (aortic or eye) or;
  • systemic score of 7 (and no more), or positive FHx.

i.e. borderline patients

23
Q

How is Marfan’s syndrome managed clinically?

A
  • annual review/echocardiogram
  • beta-blockers or;
  • CCBs or ARBs
24
Q

What surgical intervention may be recommended for patients with Marfan’s?

(2)

A
  • prophylactic aortic surgery (aortic repair)

- heart valve repair (e.g. mitral valve repair)

25
Q

What are some differential diagnosis to Marfan’s?

2

A
  • Loeys-Dietz syndrome

- Ehlers-Danlos syndrome (stretchy skin)

26
Q

What is long QT syndrome?

A

condition (often genetic) which affects the repolarisation of the heart

27
Q

What are symptoms of long QT syndrome?

A
  • congenital sensorineural deafness
  • arrhythmias (Torsades de Pointes)
  • presyncope (light headedness, faint)
28
Q

What are the complications of long QT syndrome?

A
  • epilepsy

- cardiac arrest/SCD

29
Q

How is long QT syndrome managed/treated?

A
  • avoiding strenuous exercise
  • sufficient K supplement
  • beta-blockers
  • ICD (implantable cardioverter-defibrillators)
30
Q

What are common familial cardiomyopthies?

A
  • hypertrophic cardiomyopathy

- dilated cardiomyopathy

31
Q

Dilated cardiomyopathy has many causes other than genetics which should be excluded. What are they?

(7)

A
  • hypertension/DM
  • alcohol abuse (SHx)
  • cardiotoxic drugs (DHx)
  • MSK disease
  • IHD/CAD]
  • valvular disease
  • haemochromatosis (Fe storage in tissues)
32
Q

What might be included in genetic tests investigating possible familial cardiomyopathy?

(5)

A
  • SCN5A
  • titin
  • LMNA
  • dystrophin
  • sarcomere genes
33
Q

What is a proband?

A

The first affected family member who seeks medical attention for a genetic disorder.

34
Q

What are the main things to consider/investigate when a person presents with possible congenital disease?

(5)

A
  • genetic testing
  • detailed FHx
  • assess relatives
  • cascade screening (a mechanism for identifying people at risk for a genetic condition by a process of systematic family tracing)
  • prevention

Cardiovascular System (37 decks)

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