ArticleInternational journal of legal medicine2011
Prevalence of HCM and long QT syndrome mutations in young sudden cardiac death-related cases.
Article in International journal of legal medicine, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- Morphological and Genetic Aspects for Post-Mortem Diagnosis of Hypertrophic Cardiomyopathy: A Systematic Review.International journal of molecular sciences · 2024Pooled it
- Substrates of Sudden Cardiac Death in Hypertrophic Cardiomyopathy.Journal of clinical medicine · 2025Review
- Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel.Orphanet journal of rare diseases · 2022Article
- Translational investigation of electrophysiology in hypertrophic cardiomyopathy.Journal of molecular and cellular cardiology · 2021Article
- Genetic investigations of 100 inherited cardiac disease-related genes in deceased individuals with schizophrenia.International journal of legal medicine · 2021Article
- Sudden cardiac death-update.International journal of legal medicine · 2021Review
- Cardiac Extracellular Matrix as a Platform for Heart Organ Bioengineering: Design and Development of Tissue-Engineered Heart.Advances in experimental medicine and biology · 2021Article
- Targeted molecular genetic testing in young sudden cardiac death victims from Western Denmark.International journal of legal medicine · 2020Article
- Cardiac tissue engineering: state-of-the-art methods and outlook.Journal of biological engineering · 2019Review
- Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3.Clinical case reports · 2017Article
- Post-mortem investigation of young deceased individuals with ischemic heart disease-outcome of supplementary genetic testing for dyslipidemia.International journal of legal medicine · 2016Article
- Next-generation sequencing of 100 candidate genes in young victims of suspected sudden cardiac death with structural abnormalities of the heart.International journal of legal medicine · 2016Article
- Genetic screening in sudden cardiac death in the young can save future lives.International journal of legal medicine · 2016Article
- Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy.Clinical research in cardiology : official journal of the German Cardiac Society · 2015Review
- Sequenom MassARRAY approach in the arrhythmogenic right ventricular cardiomyopathy post-mortem setting: clinical and forensic implications.International journal of legal medicine · 2015Article
- Genetics of hypertrophic cardiomyopathy: advances and pitfalls in molecular diagnosis and therapy.The application of clinical genetics · 2014Review
- Detection of genetic variation in KCNQ1 gene by high-resolution melting analysis in a prospective-based series of postmortem negative sudden death: comparison of results obtained in fresh frozen and formalin-fixed paraffin-embedded tissues.International journal of legal medicine · 2012Article
- Differences in investigations of sudden unexpected deaths in young people in a nationwide setting.International journal of legal medicine · 2012Article
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cardiomyopathies and channelopathies are major causes of sudden cardiac death. The genetic study of these diseases is difficult because of their heterogenic nature not only in their genetic traits but also in their phenotypic expression. The purpose of the present study is the analysis of a wide spectrum of previously known genetic mutations in key genes related to hypertrophic cardiomyopathy (HCM), long QT syndrome (LQTS), and Brugada syndrome (BrS) development. The samples studied include cases of sudden cardiac death (SCD) in young adults and their relatives in order to identify the real impact of genetic screening of SCD in forensic cases. Genetic screening of described variation in 16 genes implicated in the development of HCM and three more genes implicated in LQTS and BrS was performed by using MassARRAY technology. In addition, direct sequencing of the two most prevalent genes implicated in the development of SQTL type 1 and 2 was also carried out. Genetic screening allowed us to unmask four possibly pathogenic mutation carriers in the 49 SCD cases considered; carriers of mutation represent 9% (2/23) of the probands with structural anomalies found after autopsy and 7% (1/14) of the probands with structurally normal hearts after in depth autopsy protocol. One mutation was found among 12 of the recovered SCD cases considered. In people with direct family history of sudden cardiac death, but not themselves, 11 additional mutation carriers were found. Three different mutations were found in six of the 19 LQTS patients, representing three families and two different mutations were found among six patients with previous syncope. Genetic analysis in sudden cardiac death cases could help to elucidate the cause of death, but it also can help in the prevention of future deaths in families at risk. The study presented here shows the importance and relevance of genetic screening in patients with signs of cardiac hypertrophy and in family cases with more than one relative affected.
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