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familial hypertrophic cardiomyopathy, type 1
Epidemiology: prevalence is 0.2%
Genetics:
1) caused by defects in MYLK2 gene
2) caused by defects in MYH7 gene
Clinical manifestations:
1) ventricular hypertrophy
a) generally asymmetric
b) often involves the interventricular septum
2) clinically heterogeneous
3) symptoms may include:
a) dyspnea
b) syncope
c) palpitations
d) chest pain
Complications:
1) heart failure
2) sudden cardiac death
Database Correlations
OMIM correlations
MORBIDMAP 160760
References
- OMIM :accession 192600
- OMIM :accession 160760