Genetic heart disease

Question 1

What type of heart disease is Marfans?

three characteristics

Answer 1

• autosomal dominant
• connective tissue disease
• multisystem

Question 2

What three mutations can cause Marfans?

Answer 2

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

Question 3

Name four syndromes that are similar to Marfans.

Answer 3

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

Question 4

Are features of Marfans always present throughout life?

Answer 4

no

some only become present in adulthood

Question 5

State the five systems of the Ghent criteria for Marfans

Answer 5

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

Question 6

State the 6 sections of the systematic score for Marfans

As part of the Ghent criteria

Answer 6

• skin
• skeletal
• respiratory
• mitral valve prolapse
• dural ectasia
• myopia

Question 7

state some common features of Marfans?

5 features

Answer 7

• 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)

Question 8

What investigations should be done for Marfans?

Answer 8

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

Question 9

what medication should Marfan patients be prescribed?

Answer 9

• B blockers

- ARB

Question 10

Why are b blockers and ARBs prescribed?

Answer 10

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

Both reduce the rate at which the aortic root dilates

Question 11

What should be done annually for the management of Marfans?

Answer 11

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

Question 12

When should prophylactic surgery for aortic root dilation be considered?

Answer 12

when root exceeds 5.5 cm

Question 13

State four familiar arrhythmias which results in cardiac disease

Answer 13

Long QT syndrome
Brugada
CPVT
ARVC - lesions on gap junctions

Question 14

State the two types of long QT syndrome

Answer 14

Romano-Ward syndrome

Jervell Lange Neilson Syndrome

Question 15

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

Answer 15

K or Na channel transport

Question 16

State some symptoms of long QT syndrome

Answer 16

• syncope
• seizures
• sudden death

Question 17

state some exacerbating factors for long QT syndrome

Answer 17

emotion
drugs
exercise

Question 18

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

Answer 18

congenital sensorineural deafness

Question 19

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

Answer 19

RBBB
QT interval is normal
ST elevation V1-3

Question 20

State some symptoms of Brugada syndrome

Answer 20

syncope
seizures
sometimes heart palpitations

Question 21

State an exacerbating factor brugada syndrome

Answer 21

rest and sleep