A missense mutation in the beta myosin heavy chain gene is a predictor of premature sudden death in patients with hypertrophic cardiomyopathy
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| Deutscher übersetzter Titel: | Eine stille Mutation in der schweren Kette des beta-Myosins ist Vorlaeufer des vorzeitigen ploetzlichen Todes von Patienten mit hypertropher Kardiomyopathie |
|---|---|
| Autor: | Marian, Ali Jalilian; Kelly, Daniel; Mares, Adolph; Fitzgibbons, Jill; Caira, Teresa; Qun-Tao; Hill, Rita; Perryman, Benjamin M.; Roberts, Robert |
| Erschienen in: | The Journal of sports medicine and physical fitness |
| Veröffentlicht: | 34 (1994), 1, S.1-10, Lit. |
| Format: | Literatur (SPOLIT) |
| Publikationstyp: | Zeitschriftenartikel |
| Medienart: | Gedruckte Ressource |
| Sprache: | Englisch |
| ISSN: | 0022-4707, 1827-1928 |
| Schlagworte: | |
| Online Zugang: | |
| Erfassungsnummer: | PU199506101495 |
| Quelle: | BISp |
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PU199506101495 |
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db |
| format |
Literatur |
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2009-04-28T10:07:49Z |
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2001-07-24T13:22:50Z |
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BISp |
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Zeitschriftenartikel |
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JO00000000824 |
| hierarchy_parent_id |
JOI199400010000824 |
| hierarchy_top_title |
The Journal of sports medicine and physical fitness |
| hierarchy_parent_title |
The Journal of sports medicine and physical fitness, 1994, 1 |
| is_hierarchy_id |
PU199506101495 |
| is_hierarchy_title |
A missense mutation in the beta myosin heavy chain gene is a predictor of premature sudden death in patients with hypertrophic cardiomyopathy |
| hierarchy_sequence |
0001 |
| recordtype |
bisparticle |
| publishDate |
1994 |
| publishDate_facet |
1994 |
| language |
eng |
| title |
A missense mutation in the beta myosin heavy chain gene is a predictor of premature sudden death in patients with hypertrophic cardiomyopathy |
| spellingShingle |
A missense mutation in the beta myosin heavy chain gene is a predictor of premature sudden death in patients with hypertrophic cardiomyopathy Genbiologie Herz Herztod Kardiopathie Myosin Screening Sportmedizin Sporttauglichkeit Vorsorgeuntersuchung |
| title_sort |
a missense mutation in the beta myosin heavy chain gene is a predictor of premature sudden death in patients with hypertrophic cardiomyopathy |
| title_short |
A missense mutation in the beta myosin heavy chain gene is a predictor of premature sudden death in patients with hypertrophic cardiomyopathy |
| title_alt |
Eine stille Mutation in der schweren Kette des beta-Myosins ist Vorlaeufer des vorzeitigen ploetzlichen Todes von Patienten mit hypertropher Kardiomyopathie |
| title_alt_lang |
deu |
| media_type |
Gedruckte Ressource |
| city |
Turin |
| spelling |
Torino 0022-4707 1827-1928 JMPFA 410823-1 Genbiologie Herz Herztod Kardiopathie Myosin Screening Sportmedizin Sporttauglichkeit Vorsorgeuntersuchung cardiopathy fitness for sport genetic biology heart heart death myosin preparticipation physical examination screening sports medicine Leistungstest Herztherapie Herzkrankheit Altersherz Medizin Geschichte der Medizin Untersuchung, sportmedizinische Wasserdampf cardiac death genetic engineering preparticipation screening preparticipation health screening sport aptitude heart disease A missense mutation in the beta myosin heavy chain gene is a predictor of premature sudden death in patients with hypertrophic cardiomyopathy PU199506101495 199506101495 |
| abstract |
Familial hypertrophic cardiomyopathy (FHCM) is an autosomal dominant disease with protean clinical manifestations, ranging from asymptomatic to that of severe heart failure or sudden death. There ist no known parameter in individuals with hypertrophic cardiomyopathy (HCM) that predicts a specific clinical event. This is particularly troublesome for premature sudden death that frequently occurs in young athletes without prior symptoms. Recent identifications of mutations in the beta-myosin heavy chain (betaMHC) gene that co-segregate with the inheritance of the disease provides an opportunity to determine whether certain mutations are more likely to induce a particular clinical event. In this study we analyzed the genotype and phenotype of individuals from two unrelated families with HCM in which the affected individuals have the same missense mutation in exon 13 (G1208A) of the coding sequence for betaMHC. Results: We studied 54 individuals from the two families, 21 were affected with HCM of which eleven died prematurely, eight from sudden cardiac death. While most of the nine affected individuals studied had septal hypertrophy, three had concentric hypertrophy and six, left ventricular outflow tract obstruction. Onset of symptoms was in the second decade of life. Electrophoretic separation of the digested DNA (exon 13) from unaffected individuals provided two fragments of 84 and 70 bp in size, as expected. In contrast, DNA from individuals affected with HCM showed four fragments of 84 bp, 70 bp, 52 bp and 32 bp indicating they inherited the mutation. In only one 10 year old male was the mutation present without evidence of HCM which gives an overall penetrance of 86%. Conclusions: The missense mutation in exon 13 of the betaMHC gene in individuals with FHCM is associated with high penetrance, highly variable expressivity, severe disease, early in onset and a high incidence of premature sudden death. Based on these results we recommend individuals from families with HCM be screened for this missense mutation and if positive, be counselled to avoid combative sports, as it is these activities that often precipitate sudden death. Verf.-Referat |
| abstract_lang |
eng |
| abstract_type |
author |
| author2 |
Marian, Ali Jalilian Kelly, Daniel Mares, Adolph Fitzgibbons, Jill Caira, Teresa Qun-Tao Hill, Rita Perryman, Benjamin M. Roberts, Robert |
| author_facet |
Marian, Ali Jalilian Kelly, Daniel Mares, Adolph Fitzgibbons, Jill Caira, Teresa Qun-Tao Hill, Rita Perryman, Benjamin M. Roberts, Robert |
| author2-role |
Autor Autor Autor Autor Autor Autor Autor Autor Autor |
| author2-authorityid |
|
| author_author_facet |
Marian, Ali Jalilian Kelly, Daniel Mares, Adolph Fitzgibbons, Jill Caira, Teresa Qun-Tao Hill, Rita Perryman, Benjamin M. Roberts, Robert |
| author2-synonym |
|
| author2_hierarchy_facet |
0/Autor/ 1/Autor/Marian, Ali Jalilian/ 0/Autor/ 1/Autor/Kelly, Daniel/ 0/Autor/ 1/Autor/Mares, Adolph/ 0/Autor/ 1/Autor/Fitzgibbons, Jill/ 0/Autor/ 1/Autor/Caira, Teresa/ 0/Autor/ 1/Autor/Qun-Tao/ 0/Autor/ 1/Autor/Hill, Rita/ 0/Autor/ 1/Autor/Perryman, Benjamin M./ 0/Autor/ 1/Autor/Roberts, Robert/ |
| issn |
0022-4707 1827-1928 |
| coden |
JMPFA |
| zdb |
410823-1 |
| location_hierarchy_facet |
0/Italien/ |
| topic |
Genbiologie Herz Herztod Kardiopathie Myosin Screening Sportmedizin Sporttauglichkeit Vorsorgeuntersuchung |
| topic_facet |
Genbiologie Herz Herztod Kardiopathie Myosin Screening Sportmedizin Sporttauglichkeit Vorsorgeuntersuchung |
| topic_en |
cardiopathy fitness for sport genetic biology heart heart death myosin preparticipation physical examination screening sports medicine |
| topic_en_facet |
cardiopathy fitness for sport genetic biology heart heart death myosin preparticipation physical examination screening sports medicine |
| synonym |
Leistungstest Herztherapie Herzkrankheit Altersherz Medizin Geschichte der Medizin Untersuchung, sportmedizinische Wasserdampf |
| synonym_en |
cardiac death genetic engineering preparticipation screening preparticipation health screening sport aptitude heart disease |
| journal_facet |
The Journal of sports medicine and physical fitness |
| container_title |
The Journal of sports medicine and physical fitness |
| container_volume |
34 |
| container_issue |
1 |
| container_start_page |
S.1-10 |
| has_references |
1 |
| institution |
BISp |
| journal_fac |
JO00000000824 |
| journal_year |
1994 |
| journal_issue |
1 |
| _version_ |
1791517864862154752 |
| score |
13,546316 |