Abstract | BACKGROUND: METHODS AND RESULTS: Eighteen women and 13 men diagnosed with late-onset hypertrophic cardiomyopathy were studied. Initial symptoms occurred at 59.3 (+/-12.3) years, and diagnosis was made at 62.8 (+/-10.8) years. None had family histories of cardiomyopathy. Echocardiography demonstrated maximal left ventricular wall thickness of 19.9+/-3.8 mm, systolic anterior motion of the mitral valve (58%), and, in 11 individuals, left ventricular outflow tract gradients (average, 63+/-42.8 mm). Sarcomere protein gene analyses revealed 8 sequence variants in cardiac myosin binding protein-C (1 nonsense, 1 splice acceptor site, and 3 missense), cardiac troponin I (2 missense), and alpha- cardiac myosin heavy chain (1 missense). Seven variants were not found in over 170 normal chromosomes; 1 variant ( cardiac myosin binding protein-C Arg326Gln) also occurred in a healthy adult. CONCLUSIONS:
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Authors | Hideshi Niimura, Kristen K Patton, William J McKenna, Johann Soults, Barry J Maron, J G Seidman, Christine E Seidman |
Journal | Circulation
(Circulation)
Vol. 105
Issue 4
Pg. 446-51
(Jan 29 2002)
ISSN: 1524-4539 [Electronic] United States |
PMID | 11815426
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
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Chemical References |
- Carrier Proteins
- Muscle Proteins
- Troponin I
- myosin-binding protein C
- Myosin Heavy Chains
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Topics |
- Age of Onset
- Amino Acid Sequence
- Animals
- Cardiomyopathy, Hypertrophic
(diagnostic imaging, genetics)
- Carrier Proteins
(genetics)
- Echocardiography
- Female
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Muscle Proteins
(genetics)
- Mutation
- Myosin Heavy Chains
(genetics)
- Sarcomeres
(genetics)
- Sequence Alignment
- Troponin I
(genetics)
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