The DOI matches its Crossref record.
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling
Open accessAbstract
Objective: To report the frequency of single and multiple gene mutations in an Australian cohort of patients with hypertrophic cardiomyopathy (HCM). Methods: Genetic screening of seven HCM genes (β-MHC, MyBP-C, cTnT, cTnI, ACTC, MYL2, and MYL3) was undertaken in 80 unrelated probands. Screening was by denaturing high performance liquid chromatography and direct DNA sequencing. Clinical data were collected on all patients and on genotyped family members. Results: 26 mutations were identified in 23 families (29%). Nineteen probands (24%) had single mutations (11 β-MHC, 4 MyBP-C, 3 cTnI, 1 cTnT). Multiple gene mutations were identified in four probands (5%): one had a double mutation and the others had compound mutations. Six of 14 affected individuals from multiple mutation families (43%) experienced a sudden cardiac death event, compared with 10 of 55 affected members (18%) from single mutation families (p = 0.05). There was an increase in septal wall thickness in patients with compound mutations (mean (SD): 30.7 (3.1) v 24.4 (7.4) mm; p<0.05). Conclusions: Multiple gene mutations occurring in HCM families may result in a more severe clinical phenotype because of a “double dose” effect. This highlights the importance of screening the entire panel of HCM genes even after a single mutation has been identified.
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Cited by
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy
Authors/Task Force members, Elliott, P. M., Anastasakis, A., Borger, M. A., Borggrefe, M., Cecchi, F., Charron, P., Hagege, A. A., Lafont, A., Limongelli, G., et al. (2014) · European Heart Journal · doi:10.1093/eurheartj/ehu284 · Cited by 4,332
Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy
Marian, A. J., & Braunwald, E. (2017) · Circulation Research · doi:10.1161/circresaha.117.311059 · Cited by 1,403
2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy
Gersh, B. J., Maron, B. J., Bonow, R. O., Dearani, J. A., Fifer, M. A., Link, M. S., Naidu, S. S., Nishimura, R. A., Ommen, S. R., Rakowski, H., et al. (2011) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2011.06.011 · Cited by 1,276
Self-citationOmmen, S. R., Ho, C. Y., Asif, I. M., Balaji, S., Burke, M. A., Day, S. M., Dearani, J. A., Epps, K. C., Evanovich, L., Ferrari, V. A., et al. (2024) · Circulation · doi:10.1161/cir.0000000000001250 · Cited by 807
Self-citation2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy
Ommen, S. R., Mital, S., Burke, M. A., Day, S. M., Deswal, A., Elliott, P., Evanovich, L. L., Hung, J., Joglar, J. A., Kantor, P., et al. (2020) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2020.08.045 · Cited by 643
Self-citationWriting Committee Members, Ommen, S. R., Mital, S., Burke, M. A., Day, S. M., Deswal, A., Elliott, P., Evanovich, L. L., Hung, J., Joglar, J. A., et al. (2020) · Circulation · doi:10.1161/cir.0000000000000938 · Cited by 336
Self-citationHypertrophic obstructive cardiomyopathy
Veselka, J., Anavekar, N. S., & Charron, P. (2017) · The Lancet · doi:10.1016/s0140-6736(16)31321-6 · Cited by 257
Mechanisms of disease: hypertrophic cardiomyopathy
Frey, N., Luedde, M., & Katus, H. A. (2012) · Nature Reviews Cardiology · doi:10.1038/nrcardio.2011.159 · Cited by 235
Millat, G., Bouvagnet, P., Chevalier, P., Dauphin, C., Simon Jouk, P., Da Costa, A., Prieur, F., Bresson, J.-L., Faivre, L., Eicher, J.-C., et al. (2010) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2010.07.007 · Cited by 142
A Potential Oligogenic Etiology of Hypertrophic Cardiomyopathy: A Classic Single-Gene Disorder
Li, L., Bainbridge, M. N., Tan, Y., Willerson, J. T., & Marian, A. J. (2017) · Circulation Research · doi:10.1161/circresaha.116.310559 · Cited by 61
Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy
Bonaventura, J., Rowin, E. J., Chan, R. H., Chin, M. T., Puchnerova, V., Polakova, E., Macek, M., Votypka, P., Batorsky, R., Perera, G., et al. (2024) · Journal of the American Heart Association · doi:10.1161/jaha.123.033565 · Cited by 32
Metadata
- Authors
- Ingles, J., Doolan, A., Chiu, C., Seidman, J., Seidman, C., & Semsarian, C.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2005-09-30
- Volume
- 42
- Issue
- 10
- Pages
- e59-e59
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2140752009
- Cited by
- 385
- References
- 0
- FWCI
- 5.52
- Type
- journal article
- Language
- en
- Open access
- bronze
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