Cardiovascular Involvement in SYNE Variants: A Case Series and Narrative Review Article Swipe
Francesco Ravera
,
Veronica Dusi
,
Pier Paolo Bocchino
,
Giulia Gobello
,
Giuseppe Giannino
,
Daniele Melis
,
Giulia Margherita Brach Del Prever
,
Filippo Angelini
,
Andrea Saglietto
,
Carla Giustetto
,
Guglielmo Gallone
,
Stefano Pidello
,
Margherita Cannillo
,
Marco Cingolani
,
Silvia Deaglio
,
Walter Grosso Marra
,
Gaetano Maria De Ferrari
,
Claudia Raineri
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.3390/cardiogenetics15010002
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.3390/cardiogenetics15010002
Cardiac laminopathies encompass a wide range of diseases caused by defects in nuclear envelope proteins, including cardiomyopathy, atrial and ventricular arrhythmias and conduction system abnormalities. Two genes, namely LMNA and EMD, are typically associated with these disorders and are part of the routine genetic panel performed in affected patients. Yet, there are other markedly fewer known proteins, the nesprins, encoded by SYNE genes, that play a pivotal role in connecting the nuclear envelope to cytoskeletal elements. So far, SYNE gene variants have been described in association with neurodegenerative diseases; their potential association with cardiac disorders, albeit anecdotally reported, is still largely unexplored. This review focuses on the role of nesprins in cardiomyocytes and explores the potential clinical implications of SYNE variants by presenting five unrelated patients with distinct cardiac manifestations and reviewing the literature. Emerging research suggests that SYNE-related cardiomyopathies involve disrupted nuclear–cytoskeletal coupling, leading to impaired cardiac function. Understanding these mechanisms is critical for furthering insights into the broader implications of nuclear envelope proteins in cardiac health and for potentially developing targeted therapeutic strategies. Additionally, our data support the inclusion of SYNE genes in the cardiac genetic panel for cardiomyopathies and cardiac conduction disorders.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3390/cardiogenetics15010002
- https://www.mdpi.com/2035-8148/15/1/2/pdf?version=1737359682
- OA Status
- gold
- Cited By
- 2
- References
- 74
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4406599840
All OpenAlex metadata
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https://openalex.org/W4406599840Canonical identifier for this work in OpenAlex
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https://doi.org/10.3390/cardiogenetics15010002Digital Object Identifier
- Title
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Cardiovascular Involvement in SYNE Variants: A Case Series and Narrative ReviewWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2025Year of publication
- Publication date
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2025-01-20Full publication date if available
- Authors
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Francesco Ravera, Veronica Dusi, Pier Paolo Bocchino, Giulia Gobello, Giuseppe Giannino, Daniele Melis, Giulia Margherita Brach Del Prever, Filippo Angelini, Andrea Saglietto, Carla Giustetto, Guglielmo Gallone, Stefano Pidello, Margherita Cannillo, Marco Cingolani, Silvia Deaglio, Walter Grosso Marra, Gaetano Maria De Ferrari, Claudia RaineriList of authors in order
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https://doi.org/10.3390/cardiogenetics15010002Publisher landing page
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https://www.mdpi.com/2035-8148/15/1/2/pdf?version=1737359682Direct link to full text PDF
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YesWhether a free full text is available
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goldOpen access status per OpenAlex
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https://www.mdpi.com/2035-8148/15/1/2/pdf?version=1737359682Direct OA link when available
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Series (stratigraphy), Narrative, Philosophy, Linguistics, Geology, PaleontologyTop concepts (fields/topics) attached by OpenAlex
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2Total citation count in OpenAlex
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2025: 2Per-year citation counts (last 5 years)
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10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.LMNA | 28 |
| abstract_inverted_index.SYNE | 61, 78, 119, 182 |
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| abstract_inverted_index.Yet, | 49 |
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| abstract_inverted_index.data | 177 |
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| abstract_inverted_index.five | 123 |
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| abstract_inverted_index.have | 81 |
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| abstract_inverted_index.part | 39 |
| abstract_inverted_index.play | 64 |
| abstract_inverted_index.role | 67, 107 |
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| abstract_inverted_index.genes | 183 |
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| abstract_inverted_index.other | 52 |
| abstract_inverted_index.panel | 44, 188 |
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| abstract_inverted_index.their | 89 |
| abstract_inverted_index.there | 50 |
| abstract_inverted_index.these | 35, 150 |
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| abstract_inverted_index.genes, | 26, 62 |
| abstract_inverted_index.health | 167 |
| abstract_inverted_index.namely | 27 |
| abstract_inverted_index.review | 103 |
| abstract_inverted_index.system | 23 |
| abstract_inverted_index.Cardiac | 0 |
| abstract_inverted_index.broader | 159 |
| abstract_inverted_index.cardiac | 93, 128, 147, 166, 186, 192 |
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| abstract_inverted_index.encoded | 59 |
| abstract_inverted_index.focuses | 104 |
| abstract_inverted_index.genetic | 43, 187 |
| abstract_inverted_index.involve | 140 |
| abstract_inverted_index.largely | 100 |
| abstract_inverted_index.leading | 144 |
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| abstract_inverted_index.pivotal | 66 |
| abstract_inverted_index.routine | 42 |
| abstract_inverted_index.support | 178 |
| abstract_inverted_index.Emerging | 134 |
| abstract_inverted_index.affected | 47 |
| abstract_inverted_index.clinical | 116 |
| abstract_inverted_index.critical | 153 |
| abstract_inverted_index.diseases | 7 |
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| abstract_inverted_index.envelope | 13, 72, 163 |
| abstract_inverted_index.explores | 113 |
| abstract_inverted_index.impaired | 146 |
| abstract_inverted_index.insights | 156 |
| abstract_inverted_index.markedly | 53 |
| abstract_inverted_index.nesprins | 109 |
| abstract_inverted_index.patients | 125 |
| abstract_inverted_index.proteins | 164 |
| abstract_inverted_index.research | 135 |
| abstract_inverted_index.suggests | 136 |
| abstract_inverted_index.targeted | 172 |
| abstract_inverted_index.variants | 80, 120 |
| abstract_inverted_index.coupling, | 143 |
| abstract_inverted_index.described | 83 |
| abstract_inverted_index.diseases; | 88 |
| abstract_inverted_index.disorders | 36 |
| abstract_inverted_index.disrupted | 141 |
| abstract_inverted_index.elements. | 75 |
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| abstract_inverted_index.inclusion | 180 |
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| abstract_inverted_index.patients. | 48 |
| abstract_inverted_index.performed | 45 |
| abstract_inverted_index.potential | 90, 115 |
| abstract_inverted_index.proteins, | 14, 56 |
| abstract_inverted_index.reported, | 97 |
| abstract_inverted_index.reviewing | 131 |
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| abstract_inverted_index.disorders, | 94 |
| abstract_inverted_index.disorders. | 194 |
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| abstract_inverted_index.cytoskeletal | 74 |
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| abstract_inverted_index.Understanding | 149 |
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| abstract_inverted_index.manifestations | 129 |
| abstract_inverted_index.cardiomyopathy, | 16 |
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| abstract_inverted_index.nuclear–cytoskeletal | 142 |
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| cited_by_percentile_year.min | 95 |
| countries_distinct_count | 1 |
| institutions_distinct_count | 18 |
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| citation_normalized_percentile.is_in_top_10_percent | True |