Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy
Why the study?
Are TRIM63 mutations a genetic cause of hypertrophic cardiomyopathy?
Population
Patients with hypertrophic cardiomyopathy (HCM)
Design
Other
Authors
Discussion
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Member takes
Implication
Supports TRIM63 testing in select concentric HCM cases; leaves open broader adoption pending validation studies.
Structured PICO
Are TRIM63 mutations a genetic cause of hypertrophic cardiomyopathy?
P
Population
Patients with hypertrophic cardiomyopathy (HCM)
I
Intervention
TRIM63 mutations
O
Outcome
Phenotypic presentation (concentric LVH and LV dysfunction)
TRIM63 mutations are identified as a rare autosomal-recessive genetic cause of hypertrophic cardiomyopathy characterized by concentric LVH and LV dysfunction.
Cite This Study
Salazar‐Mendiguchía et al. (2020) studied this question.