Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain

Diego García-Giustiniani*, Michael Arad, Martín Ortíz-Genga, Roberto Barriales-Villa, Xusto Fernández, Isabel Rodríguez-García, Andrea Mazzanti, Elena Veira, Emilia Maneiro, Paula Rebolo, Iván Lesende, Laura Cazón, Dov Freimark, Juan Ramón Gimeno-Blanes, Christine Seidman, Jonathan Seidman, William McKenna, Lorenzo Monserrat

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Objectives: The prognostic value of genetic studies in cardiomyopathies is still controversial. Our objective was to evaluate the outcome of patients with cardiomyopathy with mutations in the converter domain of β myosin heavy chain (MYH7). Methods: Clinical characteristics and survival of 117 affected members with mutations in the converter domain of MYH7 were compared with 409 patients described in the literature with mutations in the same region. Results: Twenty-five mutations were evaluated (9 in our families including 3 novel (Ile730Asn, Asp717Gly and Arg719Pro)). Clinical diagnoses were hypertrophic (n=407), dilated (n=15), non-compaction (n=4) and restrictive (n=5) cardiomyopathies, unspecified cardiomyopathy (n=11), sudden death (n=50) and 35 healthy carriers. One hundred eighty-four had events (cardiovascular death or transplant). Median event-free survival was 50±2 years in our patients and 53±3 years in the literature (p=0.27). There were significant differences in the outcome between mutation: Ile736Thr had fewer events than other mutations in the region (p=0.01), while Arg719Gln (p<0.01) had reduced event-free survival. Conclusions: Mutations in the converter region are generally associated with adverse prognosis although there are differences between mutations. The identification of a mutation in this particular region provides important prognostic information that should be considered in the clinical management of affected patients.

Original languageEnglish
Pages (from-to)1047-1053
Number of pages7
JournalHeart
Volume101
Issue number13
DOIs
StatePublished - 1 Jul 2015

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