Exploring the Continuum of Hypertrophic Cardiomyopathy—From DNA to Clinical Expression
The concepts underlying hypertrophic cardiomyopathy (HCM) pathogenesis have evolved greatly over the last 60 years since the pioneering work of the British pathologist Donald Teare, presenting the autopsy findings of “asymmetric hypertrophy of the heart in young adults”. Advances...
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| Format: | Article |
| Language: | English |
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MDPI AG
2019-06-01
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| Series: | Medicina |
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| Online Access: | https://www.mdpi.com/1010-660X/55/6/299 |
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| author | Nicoleta Monica Popa-Fotea Miruna Mihaela Micheu Vlad Bataila Alexandru Scafa-Udriste Lucian Dorobantu Alina Ioana Scarlatescu Diana Zamfir Monica Stoian Sebastian Onciul Maria Dorobantu |
| author_facet | Nicoleta Monica Popa-Fotea Miruna Mihaela Micheu Vlad Bataila Alexandru Scafa-Udriste Lucian Dorobantu Alina Ioana Scarlatescu Diana Zamfir Monica Stoian Sebastian Onciul Maria Dorobantu |
| author_sort | Nicoleta Monica Popa-Fotea |
| collection | DOAJ |
| description | The concepts underlying hypertrophic cardiomyopathy (HCM) pathogenesis have evolved greatly over the last 60 years since the pioneering work of the British pathologist Donald Teare, presenting the autopsy findings of “asymmetric hypertrophy of the heart in young adults”. Advances in human genome analysis and cardiac imaging techniques have enriched our understanding of the complex architecture of the malady and shaped the way we perceive the illness continuum. Presently, HCM is acknowledged as “a disease of the sarcomere”, where the relationship between genotype and phenotype is not straightforward but subject to various genetic and nongenetic influences. The focus of this review is to discuss key aspects related to molecular mechanisms and imaging aspects that have prompted genotype−phenotype correlations, which will hopefully empower patient-tailored health interventions. |
| first_indexed | 2024-03-12T11:01:33Z |
| format | Article |
| id | doaj.art-80014eda100a4c918382266aeb6a058a |
| institution | Directory Open Access Journal |
| issn | 1010-660X |
| language | English |
| last_indexed | 2024-03-12T11:01:33Z |
| publishDate | 2019-06-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Medicina |
| spelling | doaj.art-80014eda100a4c918382266aeb6a058a2023-09-02T05:30:30ZengMDPI AGMedicina1010-660X2019-06-0155629910.3390/medicina55060299medicina55060299Exploring the Continuum of Hypertrophic Cardiomyopathy—From DNA to Clinical ExpressionNicoleta Monica Popa-Fotea0Miruna Mihaela Micheu1Vlad Bataila2Alexandru Scafa-Udriste3Lucian Dorobantu4Alina Ioana Scarlatescu5Diana Zamfir6Monica Stoian7Sebastian Onciul8Maria Dorobantu9Department of Cardiology, Clinical Emergency Hospital of Bucharest, Floreasca Street 8, 014461 Bucharest, RomaniaDepartment of Cardiology, Clinical Emergency Hospital of Bucharest, Floreasca Street 8, 014461 Bucharest, RomaniaDepartment of Cardiology, Clinical Emergency Hospital of Bucharest, Floreasca Street 8, 014461 Bucharest, RomaniaDepartment of Cardiology, Clinical Emergency Hospital of Bucharest, Floreasca Street 8, 014461 Bucharest, RomaniaCardiomyopathy Center, Monza Hospital, Tony Bulandra Street 27, 021968 Bucharest, RomaniaDepartment of Cardiology, Clinical Emergency Hospital of Bucharest, Floreasca Street 8, 014461 Bucharest, RomaniaDepartment of Cardiology, Clinical Emergency Hospital of Bucharest, Floreasca Street 8, 014461 Bucharest, RomaniaDepartment of Cardiology, Clinical Emergency Hospital of Bucharest, Floreasca Street 8, 014461 Bucharest, RomaniaDepartment of Cardiology, Clinical Emergency Hospital of Bucharest, Floreasca Street 8, 014461 Bucharest, RomaniaDepartment of Cardiology, Clinical Emergency Hospital of Bucharest, Floreasca Street 8, 014461 Bucharest, RomaniaThe concepts underlying hypertrophic cardiomyopathy (HCM) pathogenesis have evolved greatly over the last 60 years since the pioneering work of the British pathologist Donald Teare, presenting the autopsy findings of “asymmetric hypertrophy of the heart in young adults”. Advances in human genome analysis and cardiac imaging techniques have enriched our understanding of the complex architecture of the malady and shaped the way we perceive the illness continuum. Presently, HCM is acknowledged as “a disease of the sarcomere”, where the relationship between genotype and phenotype is not straightforward but subject to various genetic and nongenetic influences. The focus of this review is to discuss key aspects related to molecular mechanisms and imaging aspects that have prompted genotype−phenotype correlations, which will hopefully empower patient-tailored health interventions.https://www.mdpi.com/1010-660X/55/6/299hypertrophic cardiomyopathycausative mutationsmodifierscardiac imaging |
| spellingShingle | Nicoleta Monica Popa-Fotea Miruna Mihaela Micheu Vlad Bataila Alexandru Scafa-Udriste Lucian Dorobantu Alina Ioana Scarlatescu Diana Zamfir Monica Stoian Sebastian Onciul Maria Dorobantu Exploring the Continuum of Hypertrophic Cardiomyopathy—From DNA to Clinical Expression Medicina hypertrophic cardiomyopathy causative mutations modifiers cardiac imaging |
| title | Exploring the Continuum of Hypertrophic Cardiomyopathy—From DNA to Clinical Expression |
| title_full | Exploring the Continuum of Hypertrophic Cardiomyopathy—From DNA to Clinical Expression |
| title_fullStr | Exploring the Continuum of Hypertrophic Cardiomyopathy—From DNA to Clinical Expression |
| title_full_unstemmed | Exploring the Continuum of Hypertrophic Cardiomyopathy—From DNA to Clinical Expression |
| title_short | Exploring the Continuum of Hypertrophic Cardiomyopathy—From DNA to Clinical Expression |
| title_sort | exploring the continuum of hypertrophic cardiomyopathy from dna to clinical expression |
| topic | hypertrophic cardiomyopathy causative mutations modifiers cardiac imaging |
| url | https://www.mdpi.com/1010-660X/55/6/299 |
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