Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain
Key result
Mutations in the MYH7 converter region are associated with adverse prognosis, with median event-free survival of 50±2 years in the study cohort and 53±3 years in literature cases (p=0.27).
Why the study?
Do specific mutations in the converter domain of MYH7 affect event-free survival in patients with cardiomyopathy?
Population
526 individuals with mutations in the converter domain of β myosin heavy chain. Clinical diagnoses included…
Comparison
Presence of specific mutations in the converter… vs Comparison between different specific mutations…
Design
Cohort
Authors
Discussion
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Implication
May inform risk stratification for MYH7 cardiomyopathy carriers; extends observational cohorts but leaves management implications open.
Study Design
Type
Cohort (n=526)
Structured PICO
Do specific mutations in the converter domain of MYH7 affect event-free survival in patients with cardiomyopathy?
P
Population
526 individuals (117 affected members from authors' families and 409 from literature) with mutations in the converter domain of β myosin heavy chain (MYH7). Clinical diagnoses included hypertrophic (n=407), dilated (n=15), non-compaction (n=4), restrictive (n=5), unspecified cardiomyopathy (n=11), sudden death (n=50), and healthy carriers (n=35).
I
Intervention
Presence of specific mutations in the converter domain of β myosin heavy chain (MYH7), including Ile730Asn, Asp717Gly, Arg719Pro, Ile736Thr, and Arg719Gln.
C
Comparator
Comparison between different specific mutations within the MYH7 converter region, and comparison between the authors' cohort and the literature cohort.
O
Outcome
Event-free survival (events defined as cardiovascular death or transplant).hard clinical
Main Result
p-value: p=0.27
Mutations in the MYH7 converter region are generally associated with adverse prognosis in cardiomyopathy, but specific mutations like Arg719Gln confer significantly worse event-free survival compared to others.
Cite This Study
García-Giustiniani et al. (2015) conducted a cohort in Cardiomyopathy with mutations in the converter domain of MYH7 (n=526). Mutations in the converter domain of MYH7 vs. Literature cases was evaluated on Cardiovascular death or transplant (p=0.27). Mutations in the MYH7 converter region are associated with adverse prognosis, with median event-free survival of 50±2 years in the study cohort and 53±3 years in literature cases (p=0.27).