'Concealed cardiomyopathy' as a cause of previously unexplained sudden cardiac arrest
| Autor: | Belinda Gray, N. Nowak, Alexandra Butters, Jodie Ingles, Laura Yeates, Raymond W. Sy, Julia Isbister, Richard D. Bagnall, Christopher Semsarian |
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| Rok vydání: | 2021 |
| Předmět: |
Adult
Male medicine.medical_specialty Heart disease Cardiomyopathy 030204 cardiovascular system & hematology Genetic Condition Young Adult 03 medical and health sciences 0302 clinical medicine Channelopathy Internal medicine medicine Humans 030212 general & internal medicine Genetic testing medicine.diagnostic_test business.industry Australia Arrhythmias Cardiac Sudden cardiac arrest Middle Aged medicine.disease Heart Arrest Molecular analysis Death Sudden Cardiac Female MYH7 medicine.symptom Cardiomyopathies Cardiology and Cardiovascular Medicine business |
| Zdroj: | International Journal of Cardiology. 324:96-101 |
| ISSN: | 0167-5273 |
| Popis: | Background Genetic heart disease is a common cause of sudden cardiac arrest (SCA) in the young and those without an ischaemic precipitant. Identifying a cause of SCA in these patients allows for targeted care and family screening. Current guidelines recommend limited, phenotype-guided genetic testing in SCA survivors where a specific genetic condition is suspected and genetic testing is not recommended in clinically-idiopathic SCA survivors. Objective To investigate the diagnostic utility of broad, multi-phenotype genetic testing in clinically-idiopathic SCA survivors. Methods Clinically-idiopathic SCA survivors underwent analysis of genes known to be associated with either cardiomyopathy or primary arrhythmia syndromes, following referral to a specialised genetic heart disease clinic in Sydney, Australia between 1997 and 2019. Comprehensive review of clinical records, investigations and re-appraisal of genetic data according to current variant classification criteria was performed. Results In total, 22% (n = 8/36) of clinically-idiopathic SCA survivors (mean age 36.9 ± 16.9 years, 61% male) had a disease-causing variant identified on broad genetic testing. Of these, 7 (88%) variants resided in cardiomyopathy-associated genes (ACTN2, DES, DSP, MYBPC3, MYH7, PKP2) despite structurally normal hearts or sub-diagnostic structural changes at the time of arrest, so-called “concealed cardiomyopathy”. Only one SCA survivor had a variant identified in a channelopathy associated gene (SCN5A). Conclusion Extended molecular analysis with multi-phenotype genetic testing can identify a “concealed cardiomyopathy”, and increase the diagnosis rate for clinically-idiopathic SCA survivors. |
| Databáze: | OpenAIRE |
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