Genetic heart disease Flashcards

1
Q

What type of heart disease is Marfans?

three characteristics

A
  • autosomal dominant
  • connective tissue disease
  • multisystem
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2
Q

What three mutations can cause Marfans?

A
fibrillin 1 (chrom. 15q21)
TGFbR 2 (chrom. 3q22)
TGFbR 1 (chrom. 9q33)
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3
Q

Name four syndromes that are similar to Marfans.

A

¬ Loeys-Dietz Syndrome
¬ Marfan Syndrome 2
¬ Familial Thoracic Aortic Aneurysms
¬ MASS phenotype

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4
Q

Are features of Marfans always present throughout life?

A

no

some only become present in adulthood

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5
Q

State the five systems of the Ghent criteria for Marfans

A
Cardiovascular (aortic dilation)
Eyes 
Systematic score
Family 
Fibrillin 1 mutation
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6
Q

State the 6 sections of the systematic score for Marfans

As part of the Ghent criteria

A
  • skin
  • skeletal
  • respiratory
  • mitral valve prolapse
  • dural ectasia
  • myopia
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7
Q

state some common features of Marfans?

5 features

A
  • tall stature
  • arachnodactyly (long slender fingers)
  • mild aortic root dilation
  • lens subluxation (lens on eye has moved position)
  • pectus carinatum (cartilage in sternum is pointing outwards)
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8
Q

What investigations should be done for Marfans?

A

Echo in every case to check for aortic root dilation
Genetic testing for the fibrillin mutation
MRI / pelvic XR

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9
Q

what medication should Marfan patients be prescribed?

A
  • B blockers

- ARB

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10
Q

Why are b blockers and ARBs prescribed?

A

B blockers - reduce contractibility of the heart
ARB - reduce BP

Both reduce the rate at which the aortic root dilates

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11
Q

What should be done annually for the management of Marfans?

A

Echo - to check any changes in the heart (root dilation)

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12
Q

When should prophylactic surgery for aortic root dilation be considered?

A

when root exceeds 5.5 cm

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13
Q

State four familiar arrhythmias which results in cardiac disease

A

Long QT syndrome
Brugada
CPVT
ARVC - lesions on gap junctions

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14
Q

State the two types of long QT syndrome

A

Romano-Ward syndrome

Jervell Lange Neilson Syndrome

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15
Q

What mechanism causes an increased QT interval in long QT syndrome?

A

K or Na channel transport

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16
Q

State some symptoms of long QT syndrome

A
  • syncope
  • seizures
  • sudden death
17
Q

state some exacerbating factors for long QT syndrome

A

emotion
drugs
exercise

18
Q
As well as these symptoms 
- syncope 
- seizures 
- sudden death 
what other symptoms does Jervell Lange Neilson syndrome have?
A

congenital sensorineural deafness

19
Q

What is the problem caused by Brugada syndrome and what would the ECG look like?

A

RBBB
QT interval is normal
ST elevation V1-3

20
Q

State some symptoms of Brugada syndrome

A

syncope
seizures
sometimes heart palpitations

21
Q

State an exacerbating factor brugada syndrome

A

rest and sleep