Molecular Diagnosis of Hypertrophic Cardiomyopathy (HCM): In the Heart of Cardiac Disease
Hypertrophic cardiomyopathy (HCM) is an inherited myocardial disease with the presence of left ventricular hypertrophy (LVH). The disease is characterized by high locus, allelic and phenotypic heterogeneity, even among members of the same family. The list of confirmed and potentially relevant genes...
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| Format: | Article |
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MDPI AG
2022-12-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/12/1/225 |
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| author | Marilena Melas Eleftherios T. Beltsios Antonis Adamou Konstantinos Koumarelas Kim L. McBride |
| author_facet | Marilena Melas Eleftherios T. Beltsios Antonis Adamou Konstantinos Koumarelas Kim L. McBride |
| author_sort | Marilena Melas |
| collection | DOAJ |
| description | Hypertrophic cardiomyopathy (HCM) is an inherited myocardial disease with the presence of left ventricular hypertrophy (LVH). The disease is characterized by high locus, allelic and phenotypic heterogeneity, even among members of the same family. The list of confirmed and potentially relevant genes implicating the disease is constantly increasing, with novel genes frequently reported. Heterozygous alterations in the five main sarcomeric genes (<i>MYBPC3</i>, <i>MYH7</i>, <i>TNNT2</i>, <i>TNNI3</i>, and <i>MYL2</i>) are estimated to account for more than half of confirmed cases. The genetic discoveries of recent years have shed more light on the molecular pathogenic mechanisms of HCM, contributing to substantial advances in the diagnosis of the disease. Genetic testing applying next-generation sequencing (NGS) technologies and early diagnosis prior to the clinical manifestation of the disease among family members demonstrate an important improvement in the field. |
| first_indexed | 2024-03-11T09:57:28Z |
| format | Article |
| id | doaj.art-f2d7aa1b95134a929b70f6f73044c7f5 |
| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-11T09:57:28Z |
| publishDate | 2022-12-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-f2d7aa1b95134a929b70f6f73044c7f52023-11-16T15:43:10ZengMDPI AGJournal of Clinical Medicine2077-03832022-12-0112122510.3390/jcm12010225Molecular Diagnosis of Hypertrophic Cardiomyopathy (HCM): In the Heart of Cardiac DiseaseMarilena Melas0Eleftherios T. Beltsios1Antonis Adamou2Konstantinos Koumarelas3Kim L. McBride4New York Genome Center, New York, NY 10013, USAWest Germany Heart Center, Department of Thoracic and Cardiovascular Surgery, University Hospital Essen, 45147 Essen, GermanyDepartment of Radiology—Medical Imaging, University Hospital Larissa, 41110 Larissa, GreeceFaculty of Medicine, School of Health Sciences, University of Thessaly, 41110 Larissa, GreeceCenter for Cardiovascular Research, Nationwide Children’s Hospital, and Department of Pediatrics, Ohio State University, Columbus, OH 43205, USAHypertrophic cardiomyopathy (HCM) is an inherited myocardial disease with the presence of left ventricular hypertrophy (LVH). The disease is characterized by high locus, allelic and phenotypic heterogeneity, even among members of the same family. The list of confirmed and potentially relevant genes implicating the disease is constantly increasing, with novel genes frequently reported. Heterozygous alterations in the five main sarcomeric genes (<i>MYBPC3</i>, <i>MYH7</i>, <i>TNNT2</i>, <i>TNNI3</i>, and <i>MYL2</i>) are estimated to account for more than half of confirmed cases. The genetic discoveries of recent years have shed more light on the molecular pathogenic mechanisms of HCM, contributing to substantial advances in the diagnosis of the disease. Genetic testing applying next-generation sequencing (NGS) technologies and early diagnosis prior to the clinical manifestation of the disease among family members demonstrate an important improvement in the field.https://www.mdpi.com/2077-0383/12/1/225hypertrophic cardiomyopathy (HCM)next generation sequencinggenetic testing |
| spellingShingle | Marilena Melas Eleftherios T. Beltsios Antonis Adamou Konstantinos Koumarelas Kim L. McBride Molecular Diagnosis of Hypertrophic Cardiomyopathy (HCM): In the Heart of Cardiac Disease Journal of Clinical Medicine hypertrophic cardiomyopathy (HCM) next generation sequencing genetic testing |
| title | Molecular Diagnosis of Hypertrophic Cardiomyopathy (HCM): In the Heart of Cardiac Disease |
| title_full | Molecular Diagnosis of Hypertrophic Cardiomyopathy (HCM): In the Heart of Cardiac Disease |
| title_fullStr | Molecular Diagnosis of Hypertrophic Cardiomyopathy (HCM): In the Heart of Cardiac Disease |
| title_full_unstemmed | Molecular Diagnosis of Hypertrophic Cardiomyopathy (HCM): In the Heart of Cardiac Disease |
| title_short | Molecular Diagnosis of Hypertrophic Cardiomyopathy (HCM): In the Heart of Cardiac Disease |
| title_sort | molecular diagnosis of hypertrophic cardiomyopathy hcm in the heart of cardiac disease |
| topic | hypertrophic cardiomyopathy (HCM) next generation sequencing genetic testing |
| url | https://www.mdpi.com/2077-0383/12/1/225 |
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