Genetic heart disease Flashcards
What type of heart disease is Marfans?
three characteristics
- autosomal dominant
- connective tissue disease
- multisystem
What three mutations can cause Marfans?
fibrillin 1 (chrom. 15q21) TGFbR 2 (chrom. 3q22) TGFbR 1 (chrom. 9q33)
Name four syndromes that are similar to Marfans.
¬ Loeys-Dietz Syndrome
¬ Marfan Syndrome 2
¬ Familial Thoracic Aortic Aneurysms
¬ MASS phenotype
Are features of Marfans always present throughout life?
no
some only become present in adulthood
State the five systems of the Ghent criteria for Marfans
Cardiovascular (aortic dilation) Eyes Systematic score Family Fibrillin 1 mutation
State the 6 sections of the systematic score for Marfans
As part of the Ghent criteria
- skin
- skeletal
- respiratory
- mitral valve prolapse
- dural ectasia
- myopia
state some common features of Marfans?
5 features
- 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)
What investigations should be done for Marfans?
Echo in every case to check for aortic root dilation
Genetic testing for the fibrillin mutation
MRI / pelvic XR
what medication should Marfan patients be prescribed?
- B blockers
- ARB
Why are b blockers and ARBs prescribed?
B blockers - reduce contractibility of the heart
ARB - reduce BP
Both reduce the rate at which the aortic root dilates
What should be done annually for the management of Marfans?
Echo - to check any changes in the heart (root dilation)
When should prophylactic surgery for aortic root dilation be considered?
when root exceeds 5.5 cm
State four familiar arrhythmias which results in cardiac disease
Long QT syndrome
Brugada
CPVT
ARVC - lesions on gap junctions
State the two types of long QT syndrome
Romano-Ward syndrome
Jervell Lange Neilson Syndrome
What mechanism causes an increased QT interval in long QT syndrome?
K or Na channel transport