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Năstasie OC, Radu DA, Onciul S, Drăgoescu MB, Popa-Fotea NM. Nexilin mutations, a cause of chronic heart failure: A state-of-the-art review starting from a clinical case. World J Cardiol 2025; 17:100290. [DOI: 10.4330/wjc.v17.i3.100290] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/12/2024] [Revised: 01/12/2025] [Accepted: 02/18/2025] [Indexed: 03/21/2025] Open
Abstract
Heart failure (HF) is a medical condition associated with high morbidity and mortality, despite ongoing advances in diagnosis and treatment. Among the various causes of HF, cardiomyopathies are particularly significant and must be thoroughly diagnosed and characterized from the outset. In this review, we aim to present a brief overview of cardiomyopathies as a driver of HF, with a specific focus on the genetic causes, particularly nexilin (NEXN) cardiomyopathy, illustrated by a clinical case. The case involves a 63-year-old male who presented with HF symptoms at moderate exertion. Six months prior, he had been asymptomatic, and a routine transthoracic echocardiography had shown a preserved left ventricular ejection fraction (LVEF). However, during the current evaluation, transthoracic echocardiography revealed a dilated left ventricle with a severely reduced LVEF of 30%. Subsequent coronary angiography ruled out ischemic heart disease, while cardiac magnetic resonance imaging indicated a non-inflammatory, non-infiltrative dilated cardiomyopathy with extensive LV fibrosis. Genetic testing identified a heterozygous in-frame deletion variant in the NEXN gene [c.1949_1951del, p.(Gly650del)], classified as likely pathogenic. State-of-the-art HF treatment was initiated, including cardiac resynchronization therapy with defibrillator support. Following treatment, the patient’s symptoms resolved, and LVEF improved to 42%. Interestingly, this patient experienced the onset of symptoms and left ventricular dysfunction within just six months, a much faster progression compared to previously documented cases where the G650del NEXN variant is typically linked to a more gradual development of dilated cardiomyopathy. Current literature offers limited data on patients with NEXN mutations, and the connection between this gene and both dilated and hypertrophic cardiomyopathies remains an area of active research.
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Affiliation(s)
| | - Dan-Andrei Radu
- Laboratory of Interventional Cardiology, Carol Davila Central Military University Emergency Hospital, Bucharest 010825, Romania
- Cardio-Thoracic Department, University of Medicine and Pharmacy “Carol Davila”, Bucharest 050474, Romania
| | - Sebastian Onciul
- Department of Cardiology, Clinical Emergency Hospital, Bucharest 014461, Romania
- Cardio-Thoracic Department, University of Medicine and Pharmacy “Carol Davila”, Bucharest 050474, Romania
| | | | - Nicoleta-Monica Popa-Fotea
- Department of Cardiology, Clinical Emergency Hospital, Bucharest 014461, Romania
- Cardio-Thoracic Department, University of Medicine and Pharmacy “Carol Davila”, Bucharest 050474, Romania
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Spałek M, Kusińska A, Spałek J, Siudak Z, Wożakowska-Kapłon B, Adamus-Białek W. Searching for genetic determinants for left ventricular non-compaction. Quant Imaging Med Surg 2024; 14:7046-7060. [PMID: 39429584 PMCID: PMC11485346 DOI: 10.21037/qims-24-470] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/09/2024] [Accepted: 08/08/2024] [Indexed: 10/22/2024]
Abstract
Background Left ventricular non-compaction (LVNC) is still a pathology around which there are numerous controversies regarding the criteria for its diagnosis, presentation, prognosis, and even classification into the appropriate group of diseases. So far, about 190 genes in which mutations may be associated with LVNC have been described, and in each of them, several to several dozen different loci have been discovered. We decided to analyze the frequency of single nucleotide variants (SNVs) in correlation to Petersen's criteria. Methods We retrospectively analyzed the results of cardiac magnetic resonance (CMR) studies. Twenty-three patients who met Petersen's criteria agreed to participate in the research and take blood samples for genetic testing. Next, we prospectively included 24 volunteers who did not meet Petersen's criteria. Petersen's criteria were complied with ratio of non-compacted to compacted myocardium (NC/C) ≥2.3. A total of 47 DNA samples were analyzed based on the selected regions of the following genes: β-myosin heavy chain (MYH7), α-cardiac actin (ACTC1), cardiac troponin T (TNNT2), myosin binding protein-C (MYBPC3), LIM-domain binding protein 3 (LBD3), and taffazin (TAZ). Results In total, 248 substitutions in exons and introns were obtained for all analyzed samples. No statistically significant differences were detected between the mentioned groups. No significant difference in either downward or upward trends in the number of substitutions in relation to the increasing trabeculation is observed. We indicated differences in the occurrence of the studied SNVs between groups, especially for rs8037241 (3'UTR region of ACTC1) and rs2675686 (LDB3), but they also did not show statistical significance. Although we did not find a significant correlation between the co-occurrence of individual mutations with LVNC, it is worth noting that the presence of one of the four mutations in the range rs8037241 (ACTC1 3'UTR), rs3729998 (TNNT2e. 12), and rs727503240 (MYH7e. 39) increases the risk of LVNC more than 4 times. An inverse association between the number of SNVs and the meeting the Petersen's criteria was demonstrated for studied LDB3 region and rs397516254 in exon 39 of the MYH7 gene. Conclusions To our knowledge, no studies have been published comparing the prevalence of selected SNVs in a group of healthy subjects and in a group meeting the Petersen criteria for LVNC. Among both completely healthy individuals who did not meet the Petersen criteria for LVNC as well as those with symptoms who met these criteria we found a similar incidence of SNVs in the ACTC1, TNNT2, LDB3 and MYH7 genes segments analyzed. Further studies are required to confirm or exclude "potentially protective" SNV in the 39th exon of MYH7 (rs397516254) and the role of co-occurrence of individual SNVs in rs8037241 (ACTC1 3'UTR), rs3729998 (TNNT2), and rs727503240 (MYH7) for the increase of the risk of LVNC.
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Affiliation(s)
- Michał Spałek
- Collegium Medicum, Department of Anatomy, Jan Kochanowski University, Kielce, Poland
- Department of Diagnostic Imaging, Swietokrzyskie Cancer Center, Kielce, Poland
| | - Aneta Kusińska
- Institute of Medical Sciences, Jan Kochanowski University, Kielce, Poland
| | - Jan Spałek
- Hospital of the Ministry of the Interior and Administration, Kielce, Poland
| | - Zbigniew Siudak
- Collegium Medicum, Department of Anatomy, Jan Kochanowski University, Kielce, Poland
| | - Beata Wożakowska-Kapłon
- Collegium Medicum, Department of Anatomy, Jan Kochanowski University, Kielce, Poland
- 1st Clinic of Cardiology and Electrotherapy, Swietokrzyskie Cardiology Center, Kielce, Poland
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Pidaparti M, Geddes GC, Durbin MD. Clinical Genetic and Genomic Testing in Congenital Heart Disease and Cardiomyopathy. J Clin Med 2024; 13:2544. [PMID: 38731073 PMCID: PMC11084871 DOI: 10.3390/jcm13092544] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/08/2024] [Revised: 04/20/2024] [Accepted: 04/21/2024] [Indexed: 05/13/2024] Open
Abstract
Congenital heart disease (CHD) and cardiomyopathies are the leading cause of morbidity and mortality worldwide. These conditions are often caused by genetic factors, and recent research has shown that genetic and genomic testing can provide valuable information for patient care. By identifying genetic causes, healthcare providers can screen for other related health conditions, offer early interventions, estimate prognosis, select appropriate treatments, and assess the risk for family members. Genetic and genomic testing is now the standard of care in patients with CHD and cardiomyopathy. However, rapid advances in technology and greater availability of testing options have led to changes in recommendations for the most appropriate testing method. Several recent studies have investigated the utility of genetic testing in this changing landscape. This review summarizes the literature surrounding the clinical utility of genetic evaluation in patients with CHD and cardiomyopathy.
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Affiliation(s)
- Mahati Pidaparti
- Division of Neonatal-Perinatal Medicine, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN 46202, USA;
| | - Gabrielle C. Geddes
- Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA;
| | - Matthew D. Durbin
- Division of Neonatal-Perinatal Medicine, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN 46202, USA;
- Herman B Wells Center for Pediatric Research, 1044 W. Walnut, Indianapolis, IN 46202, USA
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Voinescu OR, Ionac A, Sosdean R, Ionac I, Ana LS, Kundnani NR, Morariu S, Puiu M, Chirita-Emandi A. Genotype-Phenotype Insights of Inherited Cardiomyopathies-A Review. MEDICINA (KAUNAS, LITHUANIA) 2024; 60:543. [PMID: 38674189 PMCID: PMC11052121 DOI: 10.3390/medicina60040543] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 02/23/2024] [Revised: 03/20/2024] [Accepted: 03/23/2024] [Indexed: 04/28/2024]
Abstract
Background: Cardiomyopathies (CMs) represent a heterogeneous group of primary myocardial diseases characterized by structural and functional abnormalities. They represent one of the leading causes of cardiac transplantations and cardiac death in young individuals. Clinically they vary from asymptomatic to symptomatic heart failure, with a high risk of sudden cardiac death due to malignant arrhythmias. With the increasing availability of genetic testing, a significant number of affected people are found to have an underlying genetic etiology. However, the awareness of the benefits of incorporating genetic test results into the care of these patients is relatively low. Aim: The focus of this review is to summarize the current basis of genetic CMs, including the most encountered genes associated with the main types of cardiomyopathies: hypertrophic, dilated, restrictive arrhythmogenic, and non-compaction. Materials and Methods: For this narrative review, we performed a search of multiple electronic databases, to select and evaluate relevant manuscripts. Results: Advances in genetic diagnosis led to better diagnosis precision and prognosis prediction, especially with regard to the risk of developing arrhythmias in certain subtypes of cardiomyopathies. Conclusions: Implementing the genomic information to benefit future patient care, better risk stratification and management, promises a better future for genotype-based treatment.
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Affiliation(s)
- Oana Raluca Voinescu
- Department of Cardiology, “Victor Babes” University of Medicine and Pharmacy, 300041 Timisoara, Romania
| | - Adina Ionac
- Department of Cardiology, “Victor Babes” University of Medicine and Pharmacy, 300041 Timisoara, Romania
- Research Centre of Timisoara Institute of Cardiovascular Diseases, “Victor Babes” University of Medicine and Pharmacy, 300041 Timisoara, Romania
- Institute for Cardiovascular Diseases, Gheorghe Adam Street 13A, 300310 Timisoara, Romania
| | - Raluca Sosdean
- Department of Cardiology, “Victor Babes” University of Medicine and Pharmacy, 300041 Timisoara, Romania
- Research Centre of Timisoara Institute of Cardiovascular Diseases, “Victor Babes” University of Medicine and Pharmacy, 300041 Timisoara, Romania
- Institute for Cardiovascular Diseases, Gheorghe Adam Street 13A, 300310 Timisoara, Romania
| | - Ioana Ionac
- Department of Cardiology, “Victor Babes” University of Medicine and Pharmacy, 300041 Timisoara, Romania
| | - Luca Silvia Ana
- Department of Cardiology, “Victor Babes” University of Medicine and Pharmacy, 300041 Timisoara, Romania
- Institute for Cardiovascular Diseases, Gheorghe Adam Street 13A, 300310 Timisoara, Romania
| | - Nilima Rajpal Kundnani
- Department of Cardiology, “Victor Babes” University of Medicine and Pharmacy, 300041 Timisoara, Romania
- Research Centre of Timisoara Institute of Cardiovascular Diseases, “Victor Babes” University of Medicine and Pharmacy, 300041 Timisoara, Romania
| | - Stelian Morariu
- General Medicine Faculty, “Vasile Goldis” West University, 473223 Arad, Romania
| | - Maria Puiu
- Department of Microscopic Morphology, Genetics Discipline, Center of Genomic Medicine, University of Medicine and Pharmacy, “Victor Babeș” Eftimie Murgu Sq., 300041 Timisoara, Romania
- Regional Center of Medical Genetics Timiș, Clinical Emergency Hospital for Children “Louis Țurcanu”, Iosif Nemoianu Street N°2, 300011 Timisoara, Romania
| | - Adela Chirita-Emandi
- Department of Microscopic Morphology, Genetics Discipline, Center of Genomic Medicine, University of Medicine and Pharmacy, “Victor Babeș” Eftimie Murgu Sq., 300041 Timisoara, Romania
- Regional Center of Medical Genetics Timiș, Clinical Emergency Hospital for Children “Louis Țurcanu”, Iosif Nemoianu Street N°2, 300011 Timisoara, Romania
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Upadhya B, Hegde S, Tannu M, Stacey RB, Kalogeropoulos A, Schocken DD. Preventing new-onset heart failure: Intervening at stage A. Am J Prev Cardiol 2023; 16:100609. [PMID: 37876857 PMCID: PMC10590769 DOI: 10.1016/j.ajpc.2023.100609] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/05/2023] [Revised: 09/24/2023] [Accepted: 09/30/2023] [Indexed: 10/26/2023] Open
Abstract
Heart failure (HF) prevention is an urgent public health need with national and global implications. Stage A HF patients do not show HF symptoms or structural heart disease but are at risk of HF development. There are no unique recommendations on detecting Stage A patients. Patients in Stage A are heterogeneous; many patients have different combinations of risk factors and, therefore, have markedly different absolute risks for HF. Comprehensive strategies to prevent HF at Stage A include intensive blood pressure lowering, adequate glycemic and lipid management, and heart-healthy behaviors (adopting Life's Essential 8). First and foremost, it is imperative to improve public awareness of HF risk factors and implement healthy lifestyle choices very early. In addition, recognize the HF risk-enhancing factors, which are nontraditional cardiovascular (CV) risk factors that identify individuals at high risk for HF (genetic susceptibility for HF, atrial fibrillation, chronic kidney disease, chronic liver disease, chronic inflammatory disease, sleep-disordered breathing, adverse pregnancy outcomes, radiation therapy, a history of cardiotoxic chemotherapy exposure, and COVID-19). Early use of biomarkers, imaging markers, and echocardiography (noninvasive measures of subclinical systolic and diastolic dysfunction) may enhance risk prediction among individuals without established CV disease and prevent chemotherapy-induced cardiomyopathy. Efforts are needed to address social determinants of HF risk for primordial HF prevention.Central illustrationPolicies developed by organizations such as the American Heart Association, American College of Cardiology, and the American Diabetes Association to reduce CV disease events must go beyond secondary prevention and encompass primordial and primary prevention.
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Affiliation(s)
- Bharathi Upadhya
- Division of Cardiology, Department of Medicine, Duke University School of Medicine, Durham, NC, USA
| | | | - Manasi Tannu
- Division of Cardiology, Department of Medicine, Duke University School of Medicine, Durham, NC, USA
| | - R． Brandon Stacey
- Section on Cardiovascular Medicine, Department of Internal Medicine, Wake Forest School of Medicine, Winston-Salem, NC, USA
| | - Andreas Kalogeropoulos
- Division of Cardiology, Department of Medicine, Stony Brook University School of Medicine, Long Island, NY, USA
| | - Douglas D． Schocken
- Division of Cardiology, Department of Medicine, Duke University School of Medicine, Durham, NC, USA
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Krishnan AR, Schwartz ML, Somerville C, Ding Q, Kim RH. Using whole genome sequence findings to assess gene-disease causality in cardiomyopathy and arrhythmia patients. Future Cardiol 2023; 19:583-592. [PMID: 37830358 DOI: 10.2217/fca-2023-0082] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/14/2023] Open
Abstract
Aim: The genetic etiologies of cardiomyopathies and arrhythmias have not been fully elucidated. Materials & methods: Research findings from genome analyses in a cardiomyopathy and arrhythmia cohort were gathered. Gene-disease relationships from two databases were compared with patient phenotypes. A literature review was conducted for genes with limited evidence. Results: Of 43 genes with candidate findings from 18 cases, 23.3% of genes had never been curated, 15.0% were curated for cardiomyopathies, 16.7% for arrhythmias and 31.3% for other conditions. 25.5% of candidate findings were curated for the patient's specific phenotype with 11.8% having definitive evidence. MYH6 and TPCN1 were flagged for recuration. Conclusion: Findings from genome sequencing in disease cohorts may be useful to guide gene-curation efforts.
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Affiliation(s)
- Aishwarya Rajesh Krishnan
- Division of Clinical & Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, M5G 1X8, Canada
| | - Marci Lb Schwartz
- Division of Clinical & Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, M5G 1X8, Canada
- Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, M5G 1X8, Canada
| | - Cherith Somerville
- Division of Clinical & Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, M5G 1X8, Canada
- Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, M5G 1X8, Canada
| | - Qiliang Ding
- Division of Clinical & Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, M5G 1X8, Canada
- Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, M5G 1X8, Canada
| | - Raymond H Kim
- Division of Clinical & Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, M5G 1X8, Canada
- Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, M5G 1X8, Canada
- Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Sinai Health System, Department of Medicine, Toronto, Ontario, M5T 3L9, Canada
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Peng C, Jiang Y, Ou X, Liao L, Yang C, Zhou Q, Wei Y, Chang L, Fan X. Novel XIAP mutation with early-onset Crohn's disease complicated with acute heart failure: a case report. BMC Cardiovasc Disord 2023; 23:368. [PMID: 37479963 PMCID: PMC10362603 DOI: 10.1186/s12872-023-03386-6] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/14/2023] [Accepted: 07/10/2023] [Indexed: 07/23/2023] Open
Abstract
BACKGROUND The X-linked inhibitor of apoptosis (XIAP) protein is encoded by the XIAP gene and is critical for multiple cell responses and plays a role in preventing cell death. XIAP mutations are associated with several diseases, primarily including hemophagocytic lymphohistiocytosis and inflammatory bowel disease (IBD). We report the clinical features and results associated with hemizygous mutation of the XIAP gene in a young male with Crohn's disease complicated with acute heart failure.This 16-year-old patient ultimately died of heart failure. CASE PRESENTATION A young male of 16 years of age was initially diagnosed with Crohn's disease based on evidences from endoscopic and histological findings. Although supportive care, anti-infective drugs and biologics were administered consecutively for 11 months, his clinical manifestations and laboratory indices (patient's condition) did not improved. Additionally, the patient exhibited a poor nutritional status and sustained weight loss. Subsequently, acute heart failure led to the exacerbation of the patient's condition. He was diagnosed with wet beriberi according to thiamine deficiency, but the standard medical therapy for heart failure and thiamine supplementation did not reverse the adverse outcomes. Comprehensive genetic analysis of peripheral blood-derived DNA revealed a novel hemizygous mutation of the XIAP gene (c.1259_1262 delACAG), which was inherited from his mother. CONCLUSION A novel XIAP mutation (c.1259_1262 delACAG) was identified in this study. It may be one of the potential pathogenic factors in Crohn's disease and plays an important role in the progression of heart failure. Additionally, thiamine deficiency triggers a vicious cycle.
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Affiliation(s)
- Chendong Peng
- Department of Cardiology, The Affiliated Hospital of Southwest Medical University, 25 Taiping Street, Jiangyang District, Luzhou, 646000, Sichuan, China
| | - Yuang Jiang
- Department of Cardiology, The Affiliated Hospital of Southwest Medical University, 25 Taiping Street, Jiangyang District, Luzhou, 646000, Sichuan, China
| | - Xianhong Ou
- Key Laboratory of Medical Electrophysiology of Ministry of Education and Medical Electrophysiological Key Laboratory of Sichuan Province, Collaborative Innovation Center for Prevention and Treatment of Cardiovascular Disease, Institute of Cardiovascular Research, Southwest Medical University, Luzhou, 646000, Sichuan, China
| | - Lei Liao
- Department of Cardiology, The Affiliated Hospital of Southwest Medical University, 25 Taiping Street, Jiangyang District, Luzhou, 646000, Sichuan, China
| | - Chengying Yang
- Department of Cardiology, The Affiliated Hospital of Southwest Medical University, 25 Taiping Street, Jiangyang District, Luzhou, 646000, Sichuan, China
| | - Qiao Zhou
- Department of Cardiology, The Affiliated Hospital of Southwest Medical University, 25 Taiping Street, Jiangyang District, Luzhou, 646000, Sichuan, China
| | - Yan Wei
- Key Laboratory of Medical Electrophysiology of Ministry of Education and Medical Electrophysiological Key Laboratory of Sichuan Province, Collaborative Innovation Center for Prevention and Treatment of Cardiovascular Disease, Institute of Cardiovascular Research, Southwest Medical University, Luzhou, 646000, Sichuan, China
| | - Lijia Chang
- Prenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital, Key Laboratory of Maternal and Fetal Medicine of Hebei Province, 16 Tangu-North Street, Shijiazhuang, 050000, Hebei, China.
| | - Xinrong Fan
- Department of Cardiology, The Affiliated Hospital of Southwest Medical University, 25 Taiping Street, Jiangyang District, Luzhou, 646000, Sichuan, China.
- Key Laboratory of Medical Electrophysiology of Ministry of Education and Medical Electrophysiological Key Laboratory of Sichuan Province, Collaborative Innovation Center for Prevention and Treatment of Cardiovascular Disease, Institute of Cardiovascular Research, Southwest Medical University, Luzhou, 646000, Sichuan, China.
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Couto JF, Martins E. Recommendations for the Management of Cardiomyopathy Mutation Carriers: Evidence, Doubts, and Intentions. J Clin Med 2023; 12:4706. [PMID: 37510821 PMCID: PMC10380898 DOI: 10.3390/jcm12144706] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/03/2023] [Revised: 07/05/2023] [Accepted: 07/11/2023] [Indexed: 07/30/2023] Open
Abstract
Cardiomyopathies may be hereditary and associated with a familial predilection. Morbidity and mortality can be caused by heart failure, sudden death, or arrhythmias. Sometimes these events are the first manifestations of cardiovascular disease. Hypertrophic cardiomyopathy and arrhythmogenic cardiomyopathy are perhaps most thoroughly studied in that context. Dilated cardiomyopathy, although most frequently of secondary etiology, has a significant familial cluster. Noncompaction of the left ventricle can sometimes be seen in healthy individuals and, in other instances, is associated with severe LV dysfunction. Genetic testing is of utmost importance, since it might allow for the identification of individuals carrying mutations predisposing them to these diseases. In addition, certain variants may benefit from tailored therapeutic regimens, and thus searching for a causal mutation can impact clinical practice and is recommended for all patients with HCM or ACM. Patients with DCM and positive family history should be included as well. Regular follow-ups are advised, even in those with negative phenotypes, because these disorders are often age dependent. During pregnancy and in the case of athletes, special consideration should be made as well. We intend to summarize the most current evidence regarding their management.
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Affiliation(s)
- José F Couto
- Faculty of Medicine, University of Porto, 4200-450 Porto, Portugal
| | - Elisabete Martins
- Faculty of Medicine, University of Porto, 4200-450 Porto, Portugal
- Centro Hospitalar Universitário São João, Member of the European Reference Network for Rare, Low-Prevalence, or Complex Diseases of the Heart (ERN GUARD-Heart), 4200-319 Porto, Portugal
- Center for Health Technology and Services Research (CINTESIS@RISE), Faculty of Medicine, University of Porto, 4200-450 Porto, Portugal
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Sudden Cardiac Death in Athletes: Facts and Fallacies. J Cardiovasc Dev Dis 2023; 10:jcdd10020068. [PMID: 36826564 PMCID: PMC9965876 DOI: 10.3390/jcdd10020068] [Citation(s) in RCA: 4] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/28/2022] [Revised: 01/23/2023] [Accepted: 01/29/2023] [Indexed: 02/09/2023] Open
Abstract
The benefits of exercise for cardiovascular and general health are many. However, sudden cardiac death (SCD) may occur in apparently healthy athletes who perform at the highest levels. A diverse spectrum of diseases is implicated in SCD in athletes, and while atherosclerotic coronary artery disease predominates in individuals of >35 years of age, primary cardiomyopathies and ion channelopathies are prevalent in young individuals. Prevention of SCD in athletes relies on the implementation of health policies aimed at the early identification of arrhythmogenic diseases (such as cardiac screening) and successful resuscitation (such as widespread utilization of automatic external defibrillators and training members of the public on cardiopulmonary resuscitation). This review will focus on the epidemiology and aetiologies of SCD in athletes, and examine fallacies in the approach to this controversial field. Furthermore, potential strategies to prevent these tragic events will be discussed, analysing current practice, gaps in knowledge and future directions.
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