Diagnostic Approach to Unexplained Cardiac Arrest (from the FIVI-Gen Study)

Jiménez‐Jáimez, Juan; Peinado, Rafaél; Grima, Esther Zorio; Segura, Federico; Moriña, Pablo; Muñoz, Juan José Sánchez; Mazuelos, Francisco; León, Rocío Cózar; Gimeno, Juan R.; Heras, Rocío Picón; Monserrat, Lorenzo; Domingo, Diana; Ortíz-Genga, Martín; Pastor, J. Fernández; Álvarez, Miguel; Tercedor, Luís

doi:10.1016/j.amjcard.2015.06.030

Cited by 52 publications

(42 citation statements)

References 30 publications

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“…Indeed, molecular autopsy of SCD cases with a normal autopsy have identified pathogenic putative RYR2 mutations in up to 15% of cases in patients under the age of 40 years. 2, 3 The majority of patients present around the age of 10 years with exercise-induced syncopal episodes. 4 However, atypical cases in which the onset of symptoms starts in the 3rd or 4th decade of life are also recognized.…”

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confidence: 99%

Catecholaminergic Polymorphic Ventricular Tachycardia

Lieve

Werf

Wilde

2016

Circ J

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Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited cardiac arrhythmia disorder that is characterized by emotion-and exercise-induced polymorphic ventricular arrhythmias and may lead to sudden cardiac death (SCD). CPVT plays an important role in SCD in the young and therefore recognition and adequate treatment of the disease are of vital importance. In the past years tremendous improvements have been made in the diagnostic methods and treatment of the disease. In this review, we summarize the clinical characteristics, genetics, and diagnostic and therapeutic strategies of CPVT and describe the most recent advances and some of the current challenges. (Circ J 2016; 80: 1285 -1291

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confidence: 99%

Catecholaminergic Polymorphic Ventricular Tachycardia

Lieve

Werf

Wilde

2016

Circ J

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“…Recently, Jimenez-Jaimez et al [68] studied causes of unexplained cardiac arrest in a cohort of 35 patients from nine different Spanish centers using NGS. Among other cardiac channelopathies, they made a firm diagnosis of CPVT in five, SQTS in one, BrS in seven of these patients.…”

Section: Pathogenic Variants In Patients With Congenital Cardiac Imentioning

confidence: 99%

“…Genetic studies have been less robust in SQTS compared to other chanelopathies like LQTS and BrS. This is another area where NGS technologies can provides a powerful means for expanding our understanding of the genetic basis of SQTS [68]. …”

Section: Pathogenic Variants In Patients With Congenital Cardiac Imentioning

confidence: 99%

Genomic-based diagnosis of arrhythmia disease in a personalized medicine era

Omar

Zhou

Berman

et al. 2016

Expert Review of Precision Medicine and Drug Development

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Introduction Although thousands of potentially disease-causing mutations have been identified in a handful of genes, the genetic heterogeneity has led to diagnostic confusions, stemming directly from the limitations in our arsenal of genetic tools. Areas covered We discuss the genetic basis of cardiac ion channelopathies, the gaps in our knowledge and how Next-generation sequencing technology (NGS) and can be used to bridge them, and how induced pluripotent stem cell (iPSC) derived-cardiomyocytes can be used for drug discovery. Expert commentary Univariate, arrhythmogenic arrhythmias can explain some congenital arrhythmias, however, it is far from a comprehensive understanding of the complexity of many arrhythmias. Mutational screening is a critical step in personalized medicine and is critical to the management of patients with arrhythmias. The success of personalized medicine requires a more efficient way to identify a high number of genetic variants potentially implicated in cardiac arrhythmogenic diseases than traditional sequencing methods (eg, Sanger sequencing). Next-generation sequencing technology provides us with unprecedented opportunities to achieve high-throughput, rapid, and cost-effective detection of congenital arrhythmias in patients. Moreover, in personalized medicine era, IPSC derived-cardiomyocytes can be used as ‘cardiac arrhythmia in a dish’ model for drug discovery, and help us improve management of arrhythmias in patients by developing patient-specific drug therapies with target specificity.

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“…Finally, in patients whose first manifestation is sudden death, the diagnosis may be missed during autopsy because CPVT does not induce those structural alterations in cardiac muscle that can normally be detected by macroscopic and/or microscopic methods. In these cases only molecular analysis may help unveil the diagnosis [8], as reported in a recent paper by Jiménez-Jáimez et al, who found that 14% (5/35) of sudden deaths in patients with negative autopsies were associated with CPVT-related mutations [9]. On the basis of these and similar evidences, the European Society of Cardiology has recently released a guideline document for the prevention of Sudden Cardiac Death (SCD) that recommends performing an autopsy in all cases of unexplained sudden death.…”

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confidence: 96%

Clinical Challenges in Catecholaminergic Polymorphic Ventricular Tachycardia

Imberti

Underwood

Mazzanti

et al. 2016

Heart, Lung and Circulation

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Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inheritable cardiac disorder associated with exercise- and stress-induced sudden death in young individuals. Although important steps forward have been made in the comprehension and treatment of this disease, several aspects remain unclear. Firstly, from an epidemiological standpoint the actual prevalence of CPVT is still unknown and possibly underestimated. In addition, the diagnostic process remains very challenging and can be supported by genetic analysis in only about half of the cases. Finally, up to one third of CPVT patients continue to present complex arrhythmias despite beta blocker treatment; the role of newer therapeutic options, such as flecainide and left cardiac sympathetic denervation, needs to be further elucidated. All these points constitute challenges for the cardiologist in the management of CPVT patients and fuel research into new diagnostic, prognostic and therapeutic approaches.

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Diagnostic Approach to Unexplained Cardiac Arrest (from the FIVI-Gen Study)

Cited by 52 publications

References 30 publications

Catecholaminergic Polymorphic Ventricular Tachycardia

Catecholaminergic Polymorphic Ventricular Tachycardia

Genomic-based diagnosis of arrhythmia disease in a personalized medicine era

Clinical Challenges in Catecholaminergic Polymorphic Ventricular Tachycardia

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