The DOI matches its Crossref record; 22 of the 22 references it cites were found in a registry or an index.
Mutations in Sarcomere Protein Genes in Left Ventricular Noncompaction
Open accessAbstract
Background— Left ventricular noncompaction constitutes a primary cardiomyopathy characterized by a severely thickened, 2-layered myocardium, numerous prominent trabeculations, and deep intertrabecular recesses. The genetic basis of this cardiomyopathy is still largely unresolved. We speculated that mutations in sarcomere protein genes known to cause hypertrophic cardiomyopathy and dilated cardiomyopathy may be associated with left ventricular noncompaction. Methods and Results— Mutational analysis in a cohort of 63 unrelated adult probands with left ventricular noncompaction and no other congenital heart anomalies was performed by denaturing high-performance liquid chromatography analysis and direct DNA sequencing of 6 genes encoding sarcomere proteins. Heterozygous mutations were identified in 11 of 63 samples in genes encoding β-myosin heavy chain ( MYH7 ), α-cardiac actin ( ACTC ), and cardiac troponin T ( TNNT2 ). Nine distinct mutations, 7 of them in MYH7 , 1 in ACTC , and 1 in TNNT2 , were found. Clinical evaluations demonstrated familial disease in 6 of 11 probands with sarcomere gene mutations. MYH7 mutations segregated with the disease in 4 autosomal dominant LVNC kindreds. Six of the MYH7 mutations were novel, and 1 encodes a splice-site mutation, a relatively unique finding for MYH7 mutations. Modified residues in β-myosin heavy chain were located mainly within the ATP binding site. Conclusions— We conclude that left ventricular noncompaction is within the diverse spectrum of cardiac morphologies triggered by sarcomere protein gene defects. Our findings support the hypothesis that there is a shared molecular etiology of different cardiomyopathic phenotypes.
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Self-citationSplicing of Messenger RNA Precursors
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Mutations in Sarcomere Protein Genes as a Cause of Dilated Cardiomyopathy
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Novel Gene Mutations in Patients With Left Ventricular Noncompaction or Barth Syndrome
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2023 ESC guidelines for the management of cardiomyopathies
Arbelo, E., Protonotarios, A., Gimeno, J. R., Arbustini, E., Barriales-Villa, R., Basso, C., Bezzina, C. R., Biagini, E., Blom, N. A., de Boer, R. A., et al. (2023) · European Heart Journal · doi:10.1093/eurheartj/ehad194 · Cited by 2,844
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Left ventricular non-compaction revisited: a distinct phenotype with genetic heterogeneity?
Oechslin, E., & Jenni, R. (2011) · European Heart Journal · doi:10.1093/eurheartj/ehq508 · Cited by 429
Self-citationBos, J. M., Towbin, J. A., & Ackerman, M. J. (2009) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2009.02.075 · Cited by 396
Metadata
- Authors
- Klaassen, S., Probst, S., Oechslin, E., Gerull, B., Krings, G., Schuler, P., Greutmann, M., Hürlimann, D., Yegitbasi, M., Pons, L., Gramlich, M., Drenckhahn, J.-D., Heuser, A., Berger, F., Jenni, R., & Thierfelder, L.
- Venue
- Circulation
- Published
- 2008-06-03
- Volume
- 117
- Issue
- 22
- Pages
- 2893-2901
- ISSN
- 0009-7322 (ISSN-L)
- 1524-4539
- OpenAlex
- W2161468919
- Cited by
- 451
- References
- 22
- FWCI
- 17.38
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Klaassen, S., Probst, S., Oechslin, E., Gerull, B., Krings, G., Schuler, P., Greutmann, M., Hürlimann, D., Yegitbasi, M., Pons, L., Gramlich, M., Drenckhahn, J.-D., Heuser, A., Berger, F., Jenni, R., & Thierfelder, L. (2008). Mutations in Sarcomere Protein Genes in Left Ventricular Noncompaction. Circulation. https://doi.org/10.1161/circulationaha.107.746164
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