HCM, DCM and ACM Flashcards
1
Q
Genotype-phenotype correlations in FHCM
A
Some mutations may have different prognosis
- MyBPC: later onset, mild disease
- MYH7: earlier, some malignant mutations, HF
- TnT: ++SCD without hypertrophy
2
Q
Sarcomere mutations +/- FHx of FHCM
A
Mutation found in
- 60% of those with FHx
- 40% of those with no FHX
3
Q
Modifier genes and the phenotype
A
Modifier genes:
in the locus
- additional coding variants
- non-coding Vs that alter expression
outside the locus
- Polymorphisms or rare mutations affecting same system or downstream pathways
4
Q
Environmental factors in phenotype for HCM and DCM
A
HCM
- Age
- Athletic training
- HTN
- CAD
DCM
- Age
- Pregnancy
- Cytotoxic drugs (eg anthracycline)
- Viral infection
- CAD
5
Q
Post-translational and epigenetic factors
A
- Histone acetylation
- DNA methylation
- Translational control (MiRNA)
- Post-translational modification
6
Q
Lamin A/C mutation
A
- Causes DCM with unusually poor prognosis
- Arrhythmogenic phenotype with conduction abnormalities
- Atrial arrhythmias, VT/VF
- ++SCD at young age, need ICD
7
Q
Arrhythmogenic Cardiomyopathy
A
- Regional abnormality
- Some parts of wall become very thin
- Muscle is then replaced by fibro-fatty tissue
- Was called ARVD (visible changes in RV, but pathology in many regions)
8
Q
Pathophysiology of ACM
A
- Mutations in desmosomal proteins
- Damage to intercalated discs
- Misconnection between cells
- Fibro-fatty infiltration
