Key result
The novel TPM1 mutation V95A causing hypertrophic cardiomyopathy is associated with a mild cardiac phenotype but poor prognosis, with 13 deaths among 26 affected members.
Population
26 affected members of a Spanish-American family with hypertrophic cardiomyopathy and recombinant…
Design
Cohort
Follow-up
up to age 40 years
Authors
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May warrant intensified family screening for TPM1 V95A; leaves open prospective validation and targeted therapies in hypertrophic cardiomyopathy.
Observational (n=26)
The novel TPM1 V95A mutation causes hypertrophic cardiomyopathy characterized by a mild morphological phenotype but a poor prognosis with high rates of sudden death, driven by abnormal calcium binding and myosin cycling.
Karibe et al. (2001) conducted an observational in Hypertrophic Cardiomyopathy (n=26). TPM1 mutation V95A vs. Other myosin mutations (L908V, G256E, R403Q) was evaluated on Cumulative survival rate at age 40 years. The novel TPM1 mutation V95A causing hypertrophic cardiomyopathy is associated with a mild cardiac phenotype but poor prognosis, with 13 deaths among 26 affected members.
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