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Expert Review of Cardiovascular Therapy Volume 4, 2006 - Issue 6
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Review

Genetic basis of hypertrophic cardiomyopathy

Joanne M Lind University of Sydney, Clinical Lecturer, Faculty of Medicine, Research Officer, Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Locked Bag No. 6, Newtown, NSW 2042, Australia. [email protected]
,
Christine Chiu Agnes Ginges Centre for Molecular Cardiology, Research Assistant, Centenary Institute, Locked Bag No. 6, Newtown, NSW 2042, Australia. [email protected]
&
Christopher Semsarian University of Sydney, Associate Professor, Faculty of Medicine, Molecular Cardiologist, Royal Prince Alfred Hospital Head, Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Locked Bag No. 6, Newtown, NSW 2042 Australia. [email protected]
Pages 927-934 | Published online: 10 Jan 2014

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R. Petkova, S. Chakarov & V. Ganev. (2007) Genetic Bases for Predisposition to Common Multifactorial Disease in Man. Part II. Biotechnology & Biotechnological Equipment 21:4, pages 385-392.
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Articles from other publishers (37)

Aureliu Batrînac & Vlad Chicu. (2023) Tratamentul conservativ versus chicurgical al cardiomiopatiei hipertrofice. InterConf:32(151), pages 421-429.
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Sneha Annie Sebastian, Venkatesh Panthangi, Karanbir Singh, Swetha Rayaroth, Aditi Gupta, Darshan Shantharam, Banan Qasim Rasool, Inderbir Padda, Edzel Lorraine Co & Gurpreet Johal. (2023) Hypertrophic Cardiomyopathy: Current Treatment and Future Options. Current Problems in Cardiology 48:4, pages 101552.
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Joseph J. Maleszewski, Allen P. Burke, John P. Veinot & William D. Edwards. 2023. Disorders of the Heart and Blood Vessels. Disorders of the Heart and Blood Vessels 301 322 .
Walter Serra, Giulia Vitetta, Vera Uliana, Federico Barocelli, Valeria Barili, Isabella Allegri, Diego Ardissino, Francesca Gualandi & Antonio Percesepe. (2022) Severe hypertrophic cardiomyopathy in a patient with a homozygous MYH7 gene variant. Heliyon 8:12, pages e12373.
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Georgia Vogiatzi, George Lazaros, Evangelos Oikonomou, Emilia Lazarou, Emmanouil Vavuranakis & Dimitris Tousoulis. (2022) Role of genetic testing in cardiomyopathies: Α primer for cardiologists. World Journal of Cardiology 14:1, pages 29-39.
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Xiaoyan Wang & Yunzeng Zou. 2018. Heart Genomics. Heart Genomics 179 217 .
Hideaki Yagasaki, Takaya Nakane, Youhei Hasebe, Atsushi Watanabe, Hiroaki Kise, Takako Toda, Keiichi Koizumi, Minako Hoshiai & Kanji Sugita. (2015) Co-occurrence of hypertrophic cardiomyopathy and myeloproliferative disorder in a neonate with Noonan syndrome carrying Thr73Ile mutation in PTPN11 . American Journal of Medical Genetics Part A 167:12, pages 3144-3147.
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Vikram Prasad, John N. Lorenz, Valerie M. Lasko, Michelle L. Nieman, Min Jiang, Xu Gao, Jack Rubinstein, David F. Wieczorek & Gary E. Shull. (2014) Ablation of plasma membrane Ca2+-ATPase isoform 4 prevents development of hypertrophy in a model of hypertrophic cardiomyopathy. Journal of Molecular and Cellular Cardiology 77, pages 53-63.
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Gustavo Avegliano, J. Pablo Costabel, Marina Huguet, Jorge Thierer, Marcelo Trivi, Tobon-Gomez Catalina, Mario Petit, Bart Bijnens, Alejandro Frangi & Ricardo Ronderos. (2014) Influence of dynamic obstruction and hypertrophy location on diastolic function in hypertrophic cardiomyopathy. Journal of Cardiovascular Medicine 15:3, pages 207-213.
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Belinda Gray, Jodie Ingles, Caroline Medi & Christopher Semsarian. (2013) Prolongation of the QTc Interval Predicts Appropriate Implantable Cardioverter-Defibrillator Therapies in Hypertrophic Cardiomyopathy. JACC: Heart Failure 1:2, pages 149-155.
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Edward J. Hickey, Brian W. McCrindle, Signe-Holm Larsen, Lee Benson, Cedric Manlhiot, Christopher A. Caldarone, Glen S. Van Arsdell, Brett M. McCrindle & William G. Williams. (2012) Hypertrophic Cardiomyopathy in Childhood: Disease Natural History, Impact of Obstruction, and Its Influence on Survival. The Annals of Thoracic Surgery 93:3, pages 840-848.
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Christopher Semsarian. (2011) Guidelines for the Diagnosis and Management of Hypertrophic Cardiomyopathy. Heart, Lung and Circulation 20:11, pages 688-690.
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Belinda Gray, Jodie Ingles & Christopher Semsarian. (2011) Natural history of genotype positive–phenotype negative patients with hypertrophic cardiomyopathy. International Journal of Cardiology 152:2, pages 258-259.
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Richard D. BagnallJodie InglesChristopher Semsarian. (2011) Molecular Diagnostics of Cardiomyopathies. Circulation: Cardiovascular Genetics 4:2, pages 103-104.
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Barry J. Maron, Laura Yeates & Christopher Semsarian. (2011) Clinical Challenges of Genotype Positive (+)–Phenotype Negative (−) Family Members in Hypertrophic Cardiomyopathy. The American Journal of Cardiology 107:4, pages 604-608.
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Edward J. Hickey, Rohit Mehta, Maryam Elmi, Kentaro Asoh, Brian W. McCrindle, William G. Williams, Cedric Manlhiot & Lee Benson. (2011) Survival Implications: Hypertrophic Cardiomyopathy in Noonan Syndrome. Congenital Heart Disease 6:1, pages 41-47.
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María Isabel Rodríguez-García, Lorenzo Monserrat, Martín Ortiz, Xusto Fernández, Laura Cazón, Lucía Núñez, Roberto Barriales-Villa, Emilia Maneiro, Elena Veira, Alfonso Castro-Beiras & Manuel Hermida-Prieto. (2010) Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy. BMC Medical Genetics 11:1.
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Richard D. Bagnall, Laura Yeates & Christopher Semsarian. (2010) Analysis of the Z-disc genes PDLIM3 and MYPN in Patients with Hypertrophic Cardiomyopathy. International Journal of Cardiology 145:3, pages 601-602.
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Andrew Smart. (2010) Impediments to DNA Testing and Cascade Screening for Hypertrophic Cardiomyopathy and Long QT syndrome: A Qualitative Study of Patient Experiences. Journal of Genetic Counseling 19:6, pages 630-639.
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Richard D. Bagnall, Laura Yeates & Christopher Semsarian. (2010) The role of large gene deletions and duplications in MYBPC3 and TNNT2 in patients with hypertrophic cardiomyopathy. International Journal of Cardiology 145:1, pages 150-153.
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Bianca C. Bernardo, Kate L. Weeks, Lynette Pretorius & Julie R. McMullen. (2010) Molecular distinction between physiological and pathological cardiac hypertrophy: Experimental findings and therapeutic strategies. Pharmacology & Therapeutics 128:1, pages 191-227.
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B. J. Maron & C. Semsarian. (2010) Emergence of gene mutation carriers and the expanding disease spectrum of hypertrophic cardiomyopathy. European Heart Journal 31:13, pages 1551-1553.
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Christine Chiu, Richard D. Bagnall, Jodie Ingles, Laura Yeates, Marina Kennerson, Jennifer A. Donald, Mika Jormakka, Joanne M. Lind & Christopher Semsarian. (2010) Mutations in Alpha-Actinin-2 Cause Hypertrophic Cardiomyopathy. Journal of the American College of Cardiology 55:11, pages 1127-1135.
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Dawood Darbar, Prince Kannankeril & Dan M L Roden. 2009. Evidence‐Based Cardiology. Evidence‐Based Cardiology 706 720 .
Rhian Shephard & Christopher Semsarian. (2009) Advances in the prevention of sudden cardiac death in the young. Therapeutic Advances in Cardiovascular Disease 3:2, pages 145-155.
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Matthew KellyChristopher Semsarian. (2009) Multiple Mutations in Genetic Cardiovascular Disease. Circulation: Cardiovascular Genetics 2:2, pages 182-190.
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Wilma P. van der Roest, José M. Pennings, Marian Bakker, Maarten P. van den Berg & J. Peter van Tintelen. (2009) Family letters are an effective way to inform relatives about inherited cardiac disease. American Journal of Medical Genetics Part A 149A:3, pages 357-363.
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So-Yeon ParkDae-Gyun ParkHyun-Hee ChoiDuck-Hyoung YoonSung-Eun KimJun-Hee LeeKyoo-Rok HanDong-Jin Oh. (2009) A Case of Suspected Danon Disease Presenting as a Hypertrophic Cardiomyopathy. Journal of Cardiovascular Ultrasound 17:1, pages 28.
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Christopher Semsarian. (2009) Use of Mouse Models for the Analysis of Human Disease. Current Protocols in Human Genetics 60:1.
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Steve Ramcharitar, Emanuele Meliga, Sharon W Kirschbaum, Folkert J ten Cate, Robert Jan van Geuns & Patrick W Serruys. (2008) Acute hemodynamic changes in percutaneous transluminal septal coil embolization for hypertrophic obstructive cardiomyopathy. Nature Clinical Practice Cardiovascular Medicine 5:12, pages 806-810.
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Jodie Ingles, Julie McGaughran, Jitendra Vohra, Robert G. Weintraub, Andrew Davis, John Atherton & Christopher Semsarian. (2008) Establishment of an Australian National Genetic Heart Disease Registry. Heart, Lung and Circulation 17:6, pages 463-467.
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Joanne M. Lind, Christine Chiu, Jodie Ingles, Laura Yeates, Stephen E. Humphries, Alison K. Heather & Christopher Semsarian. (2008) Sex hormone receptor gene variation associated with phenotype in male hypertrophic cardiomyopathy patients. Journal of Molecular and Cellular Cardiology 45:2, pages 217-222.
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Hiroyuki Morita, Heidi L. Rehm, Andres Menesses, Barbara McDonough, Amy E. Roberts, Raju Kucherlapati, Jeffrey A. Towbin, J.G. Seidman & Christine E. Seidman. (2008) Shared Genetic Causes of Cardiac Hypertrophy in Children and Adults. New England Journal of Medicine 358:18, pages 1899-1908.
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Bo Liang, Franca Chung, Yang Qu, Dmitri Pavlov, Todd E. Gillis, Svetlana B. Tikunova, Jonathan P. Davis & Glen F. Tibbits. (2008) Familial hypertrophic cardiomyopathy-related cardiac troponin C mutation L29Q affects Ca 2+ binding and myofilament contractility . Physiological Genomics 33:2, pages 257-266.
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Salam Sbaity & Brian Olshansky. 2008. Cardiac Pacing for the Clinician. Cardiac Pacing for the Clinician 495 546 .
Birgit S. Budde, Priska Binner, Stephan Waldmüller, Wolfgang Höhne, Wulf Blankenfeldt, Sabine Hassfeld, Jürgen Brömsen, Anastassia Dermintzoglou, Marcus Wieczorek, Erik May, Elisabeth Kirst, Carmen Selignow, Kirsten Rackebrandt, Melanie Müller, Roger S. Goody, Hans-Peter Vosberg, Peter Nürnberg & Thomas Scheffold. (2007) Noncompaction of the Ventricular Myocardium Is Associated with a De Novo Mutation in the β-Myosin Heavy Chain Gene. PLoS ONE 2:12, pages e1362.
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Christine Chiu, Molly Tebo, Jodie Ingles, Laura Yeates, Jonathan W. Arthur, Joanne M. Lind & Christopher Semsarian. (2007) Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. Journal of Molecular and Cellular Cardiology 43:3, pages 337-343.
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