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Expert Review of Molecular Diagnostics Volume 10, 2010 - Issue 3
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Review

Evolving molecular diagnostics for familial cardiomyopathies: at the heart of it all

Thomas E Callis PGxHealth Division, Clinical Data, Inc., 5 Science Park, New Haven, CT 06511, USA
,
Brian C Jensen McAllister Heart Institute, University of North Carolina, Chapel Hill, NC 27599-7126, USA and Department of Internal Medicine, Section of Cardiology, University of North Carolina, Chapel Hill, NC 27599-7075, USA
,
Karen E Weck Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, NC 27599-7525, USA
&
Monte S Willis Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, NC 27599-7525, USA and McAllister Heart Institute, University of North Carolina at Chapel Hill, 2340B Medical Biomolecular Research Building, 103 Mason Farm Road, Chapel Hill, NC 27599-7525, USA. [email protected]
Pages 329-351 | Published online: 09 Jan 2014

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Brian C Jensen & Monte S Willis. (2011) Edge of the world: practical considerations and a clinical perspective of next-generation sequencing for hereditary cardiac disease. Expert Opinion on Medical Diagnostics 5:1, pages 5-8.
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Joshua Wong, Stacey Peters & Thomas H Marwick. (2023) Phenotyping heart failure by genetics and associated conditions. European Heart Journal - Cardiovascular Imaging 24:10, pages 1293-1301.
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Vaishak Kaviarasan, Vajagathali Mohammed & Ramakrishnan Veerabathiran. (2022) Genetic predisposition study of heart failure and its association with cardiomyopathy. The Egyptian Heart Journal 74:1.
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Konstantinos Kolokotronis, Jirko Kühnisch, Eva Klopocki, Josephine Dartsch, Simone Rost, Cathleen Huculak, Giulia Mearini, Stefan Störk, Lucie Carrier, Sabine Klaassen & Brenda Gerull. (2019) Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype . Human Mutation.
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Cristina Florescu. 2018. Current Perspectives on Cardiomyopathies. Current Perspectives on Cardiomyopathies.
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Jie Wang, Ke Wan, Jiayu Sun, Weihao Li, Hong Liu, Yuchi Han & Yucheng Chen. (2018) Phenotypic diversity identified by cardiac magnetic resonance in a large hypertrophic cardiomyopathy family with a single MYH7 mutation. Scientific Reports 8:1.
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Fouad T. Chebib, Marie C. Hogan, Ziad M. El-Zoghby, Maria V. Irazabal, Sarah R. Senum, Christina M. Heyer, Charles D. Madsen, Emilie Cornec-Le Gall, Atta Behfar, Peter C. Harris & Vicente E. Torres. (2017) Autosomal Dominant Polycystic Kidney Patients May Be Predisposed to Various Cardiomyopathies. Kidney International Reports 2:5, pages 913-923.
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Ji-won HwangMi-Ae JangShin Yi JangSoo Hyun SeoMoon-Woo SeongSung Sup ParkChang-Seok KiDuk-Kyung Kim. (2017) Diverse Phenotypic Expression of Cardiomyopathies in a Family with TNNI3 p.Arg145Trp Mutation. Korean Circulation Journal 47:2, pages 270.
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Xianchi Li & Peiying Zhang. (2017) Genetic determinants of myocardial dysfunction. Journal of Medical Genetics 54:1, pages 1-10.
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Mitchel J. Pariani & Joshua W. Knowles. (2016) Integration of Clinical Genetic Testing in Cardiovascular Care. Current Genetic Medicine Reports 4:3, pages 107-118.
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YUE ZHAO, HONG CAO, YINDI SONG, YUE FENG, XIAOXUE DING, MINGJIE PANG, YUNMEI ZHANG, HONG ZHANG, JIAHUAN DING & XUESHAN XIA. (2016) Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system. International Journal of Molecular Medicine 37:6, pages 1511-1520.
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Ouarda Taghli-Lamallem, Emilie Plantié & Krzysztof Jagla. (2016) Drosophila in the Heart of Understanding Cardiac Diseases: Modeling Channelopathies and Cardiomyopathies in the Fruitfly. Journal of Cardiovascular Development and Disease 3:1, pages 7.
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Zouhair Aherrahrou, Saskia Schlossarek, Stephanie Stoelting, Matthias Klinger, Birgit Geertz, Florian Weinberger, Thorsten Kessler, Redouane Aherrahrou, Kristin Moreth, Raffi Bekeredjian, Martin Hrabě de Angelis, Steffen Just, Wolfgang Rottbauer, Thomas Eschenhagen, Heribert Schunkert, Lucie Carrier & Jeanette Erdmann. (2015) Knock-out of nexilin in mice leads to dilated cardiomyopathy and endomyocardial fibroelastosis. Basic Research in Cardiology 111:1.
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Shu‐Fen Wung, Kathleen T. Hickey, Jacquelyn Y. Taylor & Matthew J. Gallek. (2013) Cardiovascular Genomics. Journal of Nursing Scholarship 45:1, pages 60-68.
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Polakit Teekakirikul, Melissa A. Kelly, Heidi L. Rehm, Neal K. Lakdawala & Birgit H. Funke. (2013) Inherited Cardiomyopathies. The Journal of Molecular Diagnostics 15:2, pages 158-170.
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B. Gerecke & R. Engberding. (2012) Die isolierte Noncompaction-Kardiomyopathie unter besonderer Berücksichtigung ihrer rhythmologischen KomplikationenIsolated noncompaction cardiomyopathy with special emphasis on arrhythmia complications. Herzschrittmachertherapie + Elektrophysiologie 23:3, pages 201-210.
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Guy M. BenianHenry F. Epstein. (2011) Caenorhabditis elegans Muscle . Circulation Research 109:9, pages 1082-1095.
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Jessica E. Rodríguez & Monte S. Willis. (2010) The therapeutic potential of heat shock proteins in cardiomyopathies due to mutations in cardiac structural proteins. Journal of Molecular and Cellular Cardiology 49:6, pages 904-907.
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