Hereditary arrhythmias and cardiomyopathies

Louis, Clauden; Calamaro, Emily; Vinocur, Jeffrey M.

doi:10.1097/hco.0000000000000477

Cited by 6 publications

(3 citation statements)

References 24 publications

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“…The beneficial role of genetic testing in hereditary cardiomyopathies and more especially in DCM, is currently generally accepted, since the valuable contribution of genetic evaluation in diagnosis, prognosis, family screening and reproductive planning has been demonstrated through multiple studies and case reports [ 82 ]. Furthermore, risk stratification based on the reduced LVEF can recognize patients at high risk for SCD, however, its sensitivity and specificity are low [ 83 ].…”

Section: Discussionmentioning

confidence: 99%

“…In the future, the improvement of genetic testing regarding the selection of genes panel and the accurate interpretation of the subsequent results will enhance its contribution in daily clinical practice [ 82 ]. Moreover, the implementation of gene targeted therapies, both in terms of prevention and symptomatic patients’ relief based on pathogenic gene mutations, and in terms of directed therapies that turn against DCM-causative molecular mechanisms are intensively explored.…”

Section: Discussionmentioning

confidence: 99%

“…In addition, large studies that demonstrate the association between genotype and SCD risk in DCM patients are still missing, while, the wide and diverse spectrum of genotype-phenotype correlation, complicates the prediction of clinical impact and disease severity [ 83 ]. Finally, in order to achieve optimal patients’ diagnosis and management a team approach is required that will include experts of different medical fields, associated with hereditary cardiomyopathies, such as cardiologists, genetic counsellors and/or medical genetics [ 82 ].…”

Section: Discussionmentioning

confidence: 99%

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The Role of Genetics in Risk Stratification Strategy of Dilated Cardiomyopathy

Xintarakou¹,

Kariki²,

Doundoulakis³

et al. 2022

Rev. Cardiovasc. Med.

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Dilated cardiomyopathy (DCM) is a heart disorder of diverse etiologies that affects millions of people worldwide, associated with increased mortality rate and high risk of sudden cardiac death. Patients with DCM are characterized by a wide range of clinical and pre-clinical phenotypes which are related with different outcomes. Dominant studies have failed to demonstrate the value of the left ventricular ejection fraction as the only indicator for patients' assessment and arrhythmic events prediction, thus making sudden cardiac death (SCD) risk stratification strategy improvement, more crucial than ever. The multifactorial two-step approach, examining non-invasive and invasive risk factors, represents an alternative process that enhances the accurate diagnosis and the individualization of patients' management. The role of genetic testing, regarding diagnosis and decision making, is of great importance, as pathogenic variants have been detected in several patients either they had a disease relative family history or not. At the same time there are specific genes mutations that have been associated with the prognosis of the disease. The aim of this review is to summarize the latest data regarding the genetic substrate of DCM and the value of genetic testing in patients' assessment and arrhythmic risk evaluation. Undoubtedly, the appropriate application of genetic testing and the thoughtful analysis of the results will contribute to the identification of patients who will receive major benefit from an implantable defibrillator as preventive treatment of SCD.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%