Sudden Cardiac Death—A New Insight Into Potentially Fatal Genetic Markers

Primorac, Dragan; Odak, Ljubica; Perić, Vitorio; Ćatić, Jasmina; Šikić, Jozica; Radeljić, Vjekoslav; Manola, Šime; Nussbaum, Robert L.; Vatta, Matteo; Aradhya, Swaroop; Sofrenović, Tanja; Matišić, Vid; Molnar, Vilim; Skelin, Andrea; Mirat, Jure; Brachmann, Johannes

doi:10.3389/fmed.2021.647412

Cited by 7 publications

(5 citation statements)

References 72 publications

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“…Fifteen patients were enrolled into this study, and all completed the study protocol, without any adverse event. Patients were referred for: ventricular arrhythmia, 7 atrio‐ventricular nodal re‐entrant tachycardia (AVNRT), 4 Wolff‐Parkinson‐White, 1 and supra‐ventricular tachycardias 4 . The mean left ventricular ejection fraction was 52 ± 9.1 %.…”

Section: Resultsmentioning

confidence: 99%

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Laser Doppler flow for the hemodynamic differentiation of tachycardia

Stegemann

Weidmann

Miyazawa

et al. 2022

Pacing Clinical Electrophis

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Background: Implantable cardioverter defibrillators (ICDs) offer effective therapy for the prevention of sudden cardiac death (SCD) due to ventricular arrhythmias. However, inappropriate shocks have detrimental effects on survival and quality of life.The addition of hemodynamic monitoring may be useful in discriminating clinically important ventricular arrhythmias.Objective: In this study, we assess the ability of laser Doppler flowmetry to assess the hemodynamic effect of paced atrial and ventricular arrhythmias using mean arterial blood pressure as the reference. Methods:In this acute human study in patients undergoing an elective electrophysiological study, laser Doppler flowmetry, arterial blood pressure, and surface ECG were acquired during high-rate atrial and ventricular pacing to simulate supraventricular and ventricular tachycardias.Results: Arterial blood pressure and laser Doppler flow signals correlated well during atrial and ventricular pacing (rho = 0.694, p < .001). The hemodynamic impairment detected by both methods was greater during ventricular pacing than atrial pacing (-1.0% vs. 19.0%, p < .001). Laser Doppler flowmetry performed better than rate alone to identify hemodynamic impairments. Conclusion:In this acute study, laser Doppler flowmetry tissue perfusion served as a good surrogate measure for arterial pressure, which could be incorporated into future ICDs.

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Section: Resultsmentioning

confidence: 99%

“…Sudden cardiac death (SCD) is a major healthcare problem, affecting about 5 million 1 people worldwide each year. Implantable cardioverter defibrillators (ICDs) can effectively treat ventricular arrhythmias and prevent SCD 2–4 .…”

Section: Introductionmentioning

confidence: 99%

Laser Doppler flow for the hemodynamic differentiation of tachycardia

Stegemann

Weidmann

Miyazawa

et al. 2022

Pacing Clinical Electrophis

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“…In order to improve diagnostics, predict illness risk, and create targeted therapeutics, genomic medicine strives to understand the genetic basis of diseases. An excellent example of this approach is the prediction of illness risk in cardiovascular diseases [ 60 ].…”

Section: Wgs In Translational Researchmentioning

confidence: 99%

Implementing Whole Genome Sequencing (WGS) in Clinical Practice: Advantages, Challenges, and Future Perspectives

Brlek,

Bulić,

Bračić

et al. 2024

Cells

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The integration of whole genome sequencing (WGS) into all aspects of modern medicine represents the next step in the evolution of healthcare. Using this technology, scientists and physicians can observe the entire human genome comprehensively, generating a plethora of new sequencing data. Modern computational analysis entails advanced algorithms for variant detection, as well as complex models for classification. Data science and machine learning play a crucial role in the processing and interpretation of results, using enormous databases and statistics to discover new and support current genotype–phenotype correlations. In clinical practice, this technology has greatly enabled the development of personalized medicine, approaching each patient individually and in accordance with their genetic and biochemical profile. The most propulsive areas include rare disease genomics, oncogenomics, pharmacogenomics, neonatal screening, and infectious disease genomics. Another crucial application of WGS lies in the field of multi-omics, working towards the complete integration of human biomolecular data. Further technological development of sequencing technologies has led to the birth of third and fourth-generation sequencing, which include long-read sequencing, single-cell genomics, and nanopore sequencing. These technologies, alongside their continued implementation into medical research and practice, show great promise for the future of the field of medicine.

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“…Genomic DNA was isolated from the patient's blood sample and subjected to clinical next-generation sequencing using a “Sudden cardiac death” panel ( 13 ). The analysis included sequence analysis of 294 genes ( Supplementary Table S1 ) which were sequenced to a minimum depth of ≥50× and an average of 350×.…”

Section: Diagnostic Assessmentmentioning

confidence: 99%

Case report: State-of-the-art risk-modifying treatment of sudden cardiac death in an asymptomatic patient with a mutation in the SCN5A gene and a review of the literature

Brlek,

Pavelić,

Mešić

et al. 2023

Front. Cardiovasc. Med.

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Brugada syndrome is a rare hereditary disorder characterized by distinct ECG findings, complex genetics, and a high risk of sudden cardiac death. Recognition of the syndrome is crucial as it represents a paradigm of sudden death tragedy in individuals at the peak of their lives. Notably, Brugada syndrome accounts for more than 20% of sudden cardiac deaths in individuals with structurally normal hearts. Although this syndrome follows an autosomal dominant inheritance pattern, it is more prevalent and severe in males. Diagnosis is primarily based on the characteristic ECG pattern observed in the right precordial leads. Mutations in the SCN5A gene, resulting in loss of function, are the most common genetic cause. We presented a 36-year-old proband with a family history of sudden cardiac death. Although the patient was asymptomatic for Brugada syndrome, his father had experienced sudden death at the age of 36. The proband was admitted to St. Catherine's Specialty Hospital where blood was taken and subjected to next-generation sequencing (NGS) using a “Sudden cardiac death” panel. The analysis identified a pathogenic variant in the SCN5A gene [c.4222G > A(p.Gly1408Arg)], which is associated with autosomal dominant Brugada syndrome. Based on the positive genetic test result, the patient was referred for further examination. ECG with modified precordial lead positioning confirmed the presence of the Brugada phenotype, displaying the type-2 and type-1 ECG patterns. Therefore, we made the diagnosis and decided to implant an implantable cardioverter-defibrillator (ICD) based on the results of broad genetic NGS testing, diagnostic criteria (ECG), and considering the high burden of sudden cardiac death in the patient's family, as well as his concerns that limited his everyday activities. This case shows that genetics and personalized medicine hold immense potential in the primary prevention, diagnosis, and treatment of Brugada syndrome and sudden cardiac death.

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Sudden Cardiac Death—A New Insight Into Potentially Fatal Genetic Markers

Cited by 7 publications

References 72 publications

Laser Doppler flow for the hemodynamic differentiation of tachycardia

Laser Doppler flow for the hemodynamic differentiation of tachycardia

Implementing Whole Genome Sequencing (WGS) in Clinical Practice: Advantages, Challenges, and Future Perspectives

Case report: State-of-the-art risk-modifying treatment of sudden cardiac death in an asymptomatic patient with a mutation in the SCN5A gene and a review of the literature

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