Hereditary Aortopathies as Cause of Sudden Cardiac Death in the Young: State-of-the-Art Review in Molecular Medicine
Hereditary aortopathies are a group of rare genetic diseases affecting the aorta and its major branches, and they represent a cause of sudden cardiac death. These pathologies are classified into syndromic hereditary aortopathies and non-syndromic hereditary aortopathies. The epidemiology of heredita...
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2024-10-01
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| author | Cecilia Salzillo Andrea Marzullo |
| author_facet | Cecilia Salzillo Andrea Marzullo |
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| description | Hereditary aortopathies are a group of rare genetic diseases affecting the aorta and its major branches, and they represent a cause of sudden cardiac death. These pathologies are classified into syndromic hereditary aortopathies and non-syndromic hereditary aortopathies. The epidemiology of hereditary aortopathies varies according to the specific genetic condition involved; however, these disorders are believed to account for a significant proportion of sudden cardiac death in young individuals with a family history of inherited cardiovascular conditions. The causes of hereditary aortopathies are primarily genetic, with pathogenic variants in various genes encoding structural proteins of the vascular wall, leading to dissection, aneurysms, rupture, and ultimately sudden cardiac death. When the cause of death remains unknown after an autopsy, it is referred to as sudden unexplained death, and post-mortem genetic testing, known as a molecular autopsy, is crucial to confirm hereditary aortopathies and assess the genetic risk in the patient’s relatives. This helps to facilitate diagnostic and therapeutic pathways and/or implement monitoring strategies to prevent sudden cardiac death. In this state-of-the-art review, we focus on syndromic and non-syndromic hereditary aortopathies causing sudden cardiac death in the young and explore preventive strategies for affected family members. |
| format | Article |
| id | doaj-art-1135574bdba84df487ceb648cebe8522 |
| institution | OA Journals |
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| language | English |
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| spelling | doaj-art-1135574bdba84df487ceb648cebe85222025-08-20T02:07:59ZengMDPI AGDiseases2079-97212024-10-01121126410.3390/diseases12110264Hereditary Aortopathies as Cause of Sudden Cardiac Death in the Young: State-of-the-Art Review in Molecular MedicineCecilia Salzillo0Andrea Marzullo1Department of Experimental Medicine, PhD Course in Public Health, University of Campania “Luigi Vanvitelli”, 81100 Naples, ItalyDepartment of Precision and Regenerative Medicine and Ionian Area, Section of Pathology, University of Bari “Aldo Moro”, 70121 Bari, ItalyHereditary aortopathies are a group of rare genetic diseases affecting the aorta and its major branches, and they represent a cause of sudden cardiac death. These pathologies are classified into syndromic hereditary aortopathies and non-syndromic hereditary aortopathies. The epidemiology of hereditary aortopathies varies according to the specific genetic condition involved; however, these disorders are believed to account for a significant proportion of sudden cardiac death in young individuals with a family history of inherited cardiovascular conditions. The causes of hereditary aortopathies are primarily genetic, with pathogenic variants in various genes encoding structural proteins of the vascular wall, leading to dissection, aneurysms, rupture, and ultimately sudden cardiac death. When the cause of death remains unknown after an autopsy, it is referred to as sudden unexplained death, and post-mortem genetic testing, known as a molecular autopsy, is crucial to confirm hereditary aortopathies and assess the genetic risk in the patient’s relatives. This helps to facilitate diagnostic and therapeutic pathways and/or implement monitoring strategies to prevent sudden cardiac death. In this state-of-the-art review, we focus on syndromic and non-syndromic hereditary aortopathies causing sudden cardiac death in the young and explore preventive strategies for affected family members.https://www.mdpi.com/2079-9721/12/11/264aortopathieshereditary aortopathiessudden cardiac deathyounggeneticsbiomedicine |
| spellingShingle | Cecilia Salzillo Andrea Marzullo Hereditary Aortopathies as Cause of Sudden Cardiac Death in the Young: State-of-the-Art Review in Molecular Medicine Diseases aortopathies hereditary aortopathies sudden cardiac death young genetics biomedicine |
| title | Hereditary Aortopathies as Cause of Sudden Cardiac Death in the Young: State-of-the-Art Review in Molecular Medicine |
| title_full | Hereditary Aortopathies as Cause of Sudden Cardiac Death in the Young: State-of-the-Art Review in Molecular Medicine |
| title_fullStr | Hereditary Aortopathies as Cause of Sudden Cardiac Death in the Young: State-of-the-Art Review in Molecular Medicine |
| title_full_unstemmed | Hereditary Aortopathies as Cause of Sudden Cardiac Death in the Young: State-of-the-Art Review in Molecular Medicine |
| title_short | Hereditary Aortopathies as Cause of Sudden Cardiac Death in the Young: State-of-the-Art Review in Molecular Medicine |
| title_sort | hereditary aortopathies as cause of sudden cardiac death in the young state of the art review in molecular medicine |
| topic | aortopathies hereditary aortopathies sudden cardiac death young genetics biomedicine |
| url | https://www.mdpi.com/2079-9721/12/11/264 |
| work_keys_str_mv | AT ceciliasalzillo hereditaryaortopathiesascauseofsuddencardiacdeathintheyoungstateoftheartreviewinmolecularmedicine AT andreamarzullo hereditaryaortopathiesascauseofsuddencardiacdeathintheyoungstateoftheartreviewinmolecularmedicine |