Why the study?
Does the MYBPC3 IVS23+1G→A mutation affect penetrance and prognosis in patients with hypertrophic cardiomyopathy?
Population
154 non-related patients with hypertrophic cardiomyopathy and 152 individuals from 18 Spanish families…
Comparison
Presence of the MYBPC3 IVS23+1G→A mutation vs HCM patients without the MYBPC3 IVS23+1G→A…
Design
Cohort
Authors
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May inform intensified surveillance in carriers; leaves open independent prognostic value pending larger validation studies.
Does the MYBPC3 IVS23+1G→A mutation affect penetrance and prognosis in patients with hypertrophic cardiomyopathy?
The MYBPC3 IVS23+1G→A mutation in HCM is associated with middle-age onset, increased hypertrophy, and a high risk of sudden death and systolic impairment.
Oliva‐Sandoval et al. (2010) studied this question.