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Current Challenges in Cardiovascular Molecular Diagnostics

Authors: --- --- --- --- et al.
Book Series: Frontiers Research Topics ISSN: 16648714 ISBN: 9782889452811 Year: Pages: 128 DOI: 10.3389/978-2-88945-281-1 Language: English
Publisher: Frontiers Media SA
Subject: Medicine (General)
Added to DOAB on : 2018-02-27 16:16:44
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The field of cardiovascular genetics has tremendously benefited from the recent application of massive parallel sequencing technology also referred to as next generation sequencing (NGS). However, along with the discovery of additional genes associated with human cardiac diseases, the analysis of large dataset of genetic information uncovered a much more complex and variegated landscape, which often departs from the comfort zone of the monogenic Mendelian diseases image that clinical molecular geneticists have been well acquainted with for many decades. It is now clear that, in addition to highly penetrant genetic variants, which in isolation are able to recapitulate the full clinical presentation when expressed in animal models, we are now aware that a small but significant fraction of subjects presenting with cardiac muscle diseases such as cardiomyopathies or primary arrhythmias such as long QT syndrome (LQTS), may harbor at least two deleterious variants in the same gene (compound heterozygous) or in different gene (double heterozygous). Although the clinical presentation in subjects with more than one deleterious variant appears to be more severe and with an earlier disease onset, it somehow changes the viewpoint of clinical molecular geneticists whose aim is to identify all possible genetic contributors to a human condition. In this light, the employment in clinical diagnostics of the NGS technology, allowing the simultaneous interrogation of a DNA target spanning from large panel of genes up to the entire genome, will definitely aid at uncovering all such contributors, which will have to be tested functionally to confirm their role in human cardiac conditions. The uncovering of all clinically relevant deleterious changes associated with a cardiovascular disease would probably increase our understanding of the clinical variability commonly occurring among affected family relatives, and potentially provide with unexpected therapeutic targets for the treatment of symptoms related to the presence of “accessory” deleterious genetic variants other than the key molecular culprit. The objective of this Research Topic is to explore the current challenges presenting to the cardiovascular genetics providers, such as clinical geneticists, genetic counselors, clinical molecular geneticists and molecular pathologists involved in the diagnosis, counseling, testing and interpretation of genetic tests results for the comprehensive management of patients affected by cardiovascular genetic disorders.

Heart Rate Variability: Clinical Applications and Interaction between HRV and Heart Rate

Authors: --- ---
Book Series: Frontiers Research Topics ISSN: 16648714 ISBN: 9782889196524 Year: Pages: 166 DOI: 10.3389/978-2-88919-652-4 Language: English
Publisher: Frontiers Media SA
Subject: Science (General) --- Physiology
Added to DOAB on : 2016-08-16 10:34:25
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Over the last decades, assessment of heart rate variability (HRV) has increased in various fields of research. HRV describes changes in heartbeat intervals, which are caused by autonomic neural regulation, i.e. by the interplay of the sympathetic and the parasympathetic nervous systems. The most frequent application of HRV is connected to cardiological issues, most importantly to the monitoring of post-myocardial infarction patients and the prediction of sudden cardiac death. Analysis of HRV is also frequently applied in relation to diabetes, renal failure, neurological and psychiatric conditions, sleep disorders, psychological phenomena such as stress, as well as drug and addiction research including alcohol and smoking. The widespread application of HRV measurements is based on the fact that they are noninvasive, easy to perform, and in general reproducible – if carried out under standardized conditions. However, the amount of parameters to be analysed is still rising. Well-established time domain and frequency domain parameters are discussed controversially when it comes to their physiological interpretation and their psychometric properties like reliability and validity, and the sensitivity to cardiovascular properties of the variety of parameters seems to be a topic for further research. Recently introduced parameters like pNNxx and new dynamic methods such as approximate entropy and detrended fluctuation analysis offer new potentials and warrant standardization. However, HRV is significantly associated with average heart rate (HR) and one can conclude that HRV actually provides information on two quantities, i.e. on HR and its variability. It is hard to determine which of these two plays a principal role in the clinical value of HRV. The association between HRV and HR is not only a physiological phenomenon but also a mathematical one which is due to non-linear (mathematical) relationship between RR interval and HR. If one normalizes HRV to its average RR interval, one may get ‘pure’ variability free from the mathematical bias. Recently, a new modification method of the association between HRV and HR has been developed which enables us to completely remove the HRV dependence on HR (even the physiological one), or conversely enhance this dependence. Such an approach allows us to explore the HR contribution to the clinical significance of HRV, i.e. whether HR or its variability plays a main role in the HRV clinical value. This Research Topic covers recent advances in the application of HRV, methodological issues, basic underlying mechanisms as well as all aspects of the interaction between HRV and HR.

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