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familial hypertrophic cardiomyopathy, type 4
Pathology:
- ventricular hypertrophy
- usually asymmetric
- often involves the interventricular septum
Genetics:
- associated with defects in MYBPC3
- inter- & intrafamilial variability
Clinical manifestations:
- dyspnea
- palpitations
- chest pain
- syncope
- symptoms provoked by exercise
Laboratory:
- MYBPC3 gene mutation
Complications:
- sudden cardiac death
Management:
- investigational
- MYBPC3 gene mutation successfully repaired in human embryos using CRISPR technology [2]
Database Correlations
OMIM correlations
MORBIDMAP 600958
References
- OMIM :accession 115197
- Ma H, Marti-Gutierrez N, Park SW et al
Correction of a pathogenic gene mutation in human embryos.
Nature (2017). Published online 02 August 2017
PMID: 28783728
http://www.nature.com/nature/journal/vaop/ncurrent/full/nature23305.html