Comprehensive Diagnostic Work-Up for Uncovering the Causes of Sudden Cardiac Death: The Role of Family Members
Background: The aim of this study was to evaluate the performance of the diagnostic pathway proposed by the European Society of Cardiology (ESC) guidelines for identifying the underlying aetiology of sudden cardiac death (SCD) through the screening of first-degree family members of patients with SCD...
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| Language: | English |
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MDPI AG
2024-12-01
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| Series: | Cardiogenetics |
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| Online Access: | https://www.mdpi.com/2035-8148/14/4/18 |
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| author | Emanuele Monda Gaetano Diana Daniele Bruno Marta Rubino Giuseppe Palmiero Federica Verrillo Chiara Cirillo Annapaola Cirillo Adelaide Fusco Martina Caiazza Santo Dellegrottaglie Diego Colonna Berardo Sarubbi Pietro Buono Maria Giovanna Russo Giuseppe Limongelli |
| author_facet | Emanuele Monda Gaetano Diana Daniele Bruno Marta Rubino Giuseppe Palmiero Federica Verrillo Chiara Cirillo Annapaola Cirillo Adelaide Fusco Martina Caiazza Santo Dellegrottaglie Diego Colonna Berardo Sarubbi Pietro Buono Maria Giovanna Russo Giuseppe Limongelli |
| author_sort | Emanuele Monda |
| collection | DOAJ |
| description | Background: The aim of this study was to evaluate the performance of the diagnostic pathway proposed by the European Society of Cardiology (ESC) guidelines for identifying the underlying aetiology of sudden cardiac death (SCD) through the screening of first-degree family members of patients with SCD who either had a negative autopsy or no autopsy performed. Methods: To be eligible for enrolment, patients had to meet the following inclusion criteria: a family history of SCD in a first-degree relative under the age of 50 years; the SCD decedents must not have undergone an autopsy, or if an autopsy was performed, non-cardiac and structural cardiac causes must have been excluded. Patients underwent a comprehensive assessment, including the evaluation of family and medical history, electrocardiography (ECG) and ECG with high precordial leads, Holter ECG monitoring, echocardiography, cardiac magnetic resonance imaging, and exercise stress testing. A sodium channel blocker test (i.e., flecainide test) was performed when other clinical investigations were negative and the suspicion of Brugada syndrome was high. Results: Forty-one patients from 25 different families fulfilled the inclusion criteria and represented the final study cohort. After the comprehensive diagnostic work-up, a total of seven patients from five different families (5/25, 20%) were diagnosed with an inherited cardiac condition: two families with arrhythmogenic right ventricular cardiomyopathy, one with dilated cardiomyopathy, one with non-dilated left ventricular cardiomyopathy, and one with long QT syndrome. Conclusions: The comprehensive cardiologic work-up of relatives of mainly young SCD victims results in the diagnosis of inherited cardiac conditions in one-fifth of cases. |
| format | Article |
| id | doaj-art-33c8d402d3f14e2aa69afc8be7c1c2a2 |
| institution | OA Journals |
| issn | 2035-8253 2035-8148 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Cardiogenetics |
| spelling | doaj-art-33c8d402d3f14e2aa69afc8be7c1c2a22025-08-20T02:00:39ZengMDPI AGCardiogenetics2035-82532035-81482024-12-0114422122710.3390/cardiogenetics14040018Comprehensive Diagnostic Work-Up for Uncovering the Causes of Sudden Cardiac Death: The Role of Family MembersEmanuele Monda0Gaetano Diana1Daniele Bruno2Marta Rubino3Giuseppe Palmiero4Federica Verrillo5Chiara Cirillo6Annapaola Cirillo7Adelaide Fusco8Martina Caiazza9Santo Dellegrottaglie10Diego Colonna11Berardo Sarubbi12Pietro Buono13Maria Giovanna Russo14Giuseppe Limongelli15Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, 80131 Naples, ItalyInherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, 80131 Naples, ItalyInherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, 80131 Naples, ItalyInherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, 80131 Naples, ItalyInherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, 80131 Naples, ItalyInherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, 80131 Naples, ItalyInherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, 80131 Naples, ItalyInherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, 80131 Naples, ItalyInherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, 80131 Naples, ItalyInherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, 80131 Naples, ItalyAdvanced Cardiovascular Imaging Unit, Clinica Villa dei Fiori Acerra, 80011 Naples, ItalyAdult Congenital Heart Disease and Congenital and Familial Arrhythmias Unit, Monaldi Hospital, 80131 Naples, ItalyAdult Congenital Heart Disease and Congenital and Familial Arrhythmias Unit, Monaldi Hospital, 80131 Naples, ItalyDirectorate General of Health, Campania Region, 80131 Naples, ItalyPaediatric Cardiology Unit, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, 80131 Naples, ItalyInherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, 80131 Naples, ItalyBackground: The aim of this study was to evaluate the performance of the diagnostic pathway proposed by the European Society of Cardiology (ESC) guidelines for identifying the underlying aetiology of sudden cardiac death (SCD) through the screening of first-degree family members of patients with SCD who either had a negative autopsy or no autopsy performed. Methods: To be eligible for enrolment, patients had to meet the following inclusion criteria: a family history of SCD in a first-degree relative under the age of 50 years; the SCD decedents must not have undergone an autopsy, or if an autopsy was performed, non-cardiac and structural cardiac causes must have been excluded. Patients underwent a comprehensive assessment, including the evaluation of family and medical history, electrocardiography (ECG) and ECG with high precordial leads, Holter ECG monitoring, echocardiography, cardiac magnetic resonance imaging, and exercise stress testing. A sodium channel blocker test (i.e., flecainide test) was performed when other clinical investigations were negative and the suspicion of Brugada syndrome was high. Results: Forty-one patients from 25 different families fulfilled the inclusion criteria and represented the final study cohort. After the comprehensive diagnostic work-up, a total of seven patients from five different families (5/25, 20%) were diagnosed with an inherited cardiac condition: two families with arrhythmogenic right ventricular cardiomyopathy, one with dilated cardiomyopathy, one with non-dilated left ventricular cardiomyopathy, and one with long QT syndrome. Conclusions: The comprehensive cardiologic work-up of relatives of mainly young SCD victims results in the diagnosis of inherited cardiac conditions in one-fifth of cases.https://www.mdpi.com/2035-8148/14/4/18sudden cardiac deathcardiomyopathychannelopathygenetic |
| spellingShingle | Emanuele Monda Gaetano Diana Daniele Bruno Marta Rubino Giuseppe Palmiero Federica Verrillo Chiara Cirillo Annapaola Cirillo Adelaide Fusco Martina Caiazza Santo Dellegrottaglie Diego Colonna Berardo Sarubbi Pietro Buono Maria Giovanna Russo Giuseppe Limongelli Comprehensive Diagnostic Work-Up for Uncovering the Causes of Sudden Cardiac Death: The Role of Family Members Cardiogenetics sudden cardiac death cardiomyopathy channelopathy genetic |
| title | Comprehensive Diagnostic Work-Up for Uncovering the Causes of Sudden Cardiac Death: The Role of Family Members |
| title_full | Comprehensive Diagnostic Work-Up for Uncovering the Causes of Sudden Cardiac Death: The Role of Family Members |
| title_fullStr | Comprehensive Diagnostic Work-Up for Uncovering the Causes of Sudden Cardiac Death: The Role of Family Members |
| title_full_unstemmed | Comprehensive Diagnostic Work-Up for Uncovering the Causes of Sudden Cardiac Death: The Role of Family Members |
| title_short | Comprehensive Diagnostic Work-Up for Uncovering the Causes of Sudden Cardiac Death: The Role of Family Members |
| title_sort | comprehensive diagnostic work up for uncovering the causes of sudden cardiac death the role of family members |
| topic | sudden cardiac death cardiomyopathy channelopathy genetic |
| url | https://www.mdpi.com/2035-8148/14/4/18 |
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