Electrocardiographic Assessment and Genetic Analysis in Neonates: a Current Topic of Discussion

Sarquella‐Brugada, Georgia; César, Sergi; Zambrano, M.D.C. Beato; Fernández-Falgueras, Anna; Fiol, Victoria; Iglesias, Anna; Torres, F.; Garcı́a-Algar, Óscar; Arbelo, Elena; Brugada, Josép; Brugada, Ramón; Campuzano, Òscar

doi:10.2174/1573403x14666180913114806

Cited by 7 publications

(6 citation statements)

References 76 publications

(95 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Some centers now consider the LRRC10 gene to be associated with BrS [100]. This gene encodes for the Heart-Restricted Leucine-Rich Repeat Protein and has been described as a transcriptional target of Nkx2.5, which regulates the ion channel proteins encoded by the SCN5A, CACNA1C, and KCNH2 genes [101].…”

Section: Sodium Channel Mutationsmentioning

confidence: 99%

Brugada Syndrome: Oligogenic or Mendelian Disease?

Monasky

Micaglio

Ciconte

et al. 2020

IJMS

View full text Add to dashboard Cite

Brugada syndrome (BrS) is diagnosed by a coved-type ST-segment elevation in the right precordial leads on the electrocardiogram (ECG), and it is associated with an increased risk of sudden cardiac death (SCD) compared to the general population. Although BrS is considered a genetic disease, its molecular mechanism remains elusive in about 70-85% of clinically-confirmed cases. Variants occurring in at least 26 different genes have been previously considered causative, although the causative effect of all but the SCN5A gene has been recently challenged, due to the lack of systematic, evidence-based evaluations, such as a variant's frequency among the general population, family segregation analyses, and functional studies. Also, variants within a particular gene can be associated with an array of different phenotypes, even within the same family, preventing a clear genotype-phenotype correlation. Moreover, an emerging concept is that a single mutation may not be enough to cause the BrS phenotype, due to the increasing number of common variants now thought to be clinically relevant. Thus, not only the complete list of genes causative of the BrS phenotype remains to be determined, but also the interplay between rare and common multiple variants. This is particularly true for some common polymorphisms whose roles have been recently re-evaluated by outstanding works, including considering for the first time ever a polygenic risk score derived from the heterozygous state for both common and rare variants. The more common a certain variant is, the less impact this variant might have on heart function. We are aware that further studies are warranted to validate a polygenic risk score, because there is no mutated gene that connects all, or even a majority, of BrS cases. For the same reason, it is currently impossible to create animal and cell line genetic models that represent all BrS cases, which would enable the expansion of studies of this syndrome. Thus, the best model at this point is the human patient population. Further studies should first aim to uncover genetic variants within individuals, as well as to collect family segregation data to identify potential genetic causes of BrS.

show abstract

Section: Sodium Channel Mutationsmentioning

confidence: 99%

Brugada Syndrome: Oligogenic or Mendelian Disease?

Monasky

Micaglio

Ciconte

et al. 2020

IJMS

View full text Add to dashboard Cite

show abstract

“…Regarding several recent studies (38)(39)(40), the risk stratification is in high demand to prevent sudden death or stroke caused by cardiac diseases. Inspired by the present algorithm, the risk prediction of cardiac diseases can be automated based on the clinical data collected from the ECG or electronic heart records.…”

Section: Discussionmentioning

confidence: 99%

Automatic Detection for Multi-Labeled Cardiac Arrhythmia Based on Frame Blocking Preprocessing and Residual Networks

Zhang

2021

Front. Cardiovasc. Med.

View full text Add to dashboard Cite

Introduction: Electrocardiograms (ECG) provide information about the electrical activity of the heart, which is useful for diagnosing abnormal cardiac functions such as arrhythmias. Recently, several algorithms based on advanced structures of neural networks have been proposed for auto-detecting cardiac arrhythmias, but their performance still needs to be further improved. This study aimed to develop an auto-detection algorithm, which extracts valid features from 12-lead ECG for classifying multiple types of cardiac states.Method: The proposed algorithm consists of the following components: (i) a preprocessing component that utilizes the frame blocking method to split an ECG recording into frames with a uniform length for all considered ECG recordings; and (ii) a binary classifier based on ResNet, which is combined with the attention-based bidirectional long-short term memory model.Result: The developed algorithm was trained and tested on ECG data of nine types of cardiac states, fulfilling a task of multi-label classification. It achieved an averaged F1-score and area under the curve at 0.908 and 0.974, respectively.Conclusion: The frame blocking and bidirectional long-short term memory model represented an improved algorithm compared with others in the literature for auto-detecting and classifying multi-types of cardiac abnormalities.

show abstract

“…According to the analysis report, positivity for any of the approximately 40 genes encoding cardiac sodium, potassium and calcium ion channels could lead to an arrhythmogenic substrate in a structurally normal heart (19). This could result in some life-threatening arrhythmias, such as long-QT syndrome, short-QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia and even sudden infant death syndrome (19)(20)(21)(22). In our cohort, four infants with malignant arrhythmia died early after birth, ultimately they were diagnosed with carnitine palmityl transferase II deficiency based on genetic sequencing reports.…”

Section: Discussionmentioning

confidence: 99%

Clinical and genetic spectrum of neonatal arrhythmia in a NICU

et al. 2021

View full text Add to dashboard Cite

Background: Neonatal arrhythmia is a common complication that might be life-threatening or serious, but the genetic causes are unclear in most cases. The aim of this study is to investigate the genetic causes of neonatal arrhythmia in a NICU in China.Methods: Newborns who were diagnosed with arrhythmia during the neonatal period were enrolled from Children's Hospital of Fudan University between January 1st 2016, and December 31st, 2019. A neonatal gene panel was performed for each infant.Results: In total, 98 neonatal infants with arrhythmia were enrolled. Fourteen genes and a copy number change were identified and classified as pathogenic/likely pathogenic in 22 patients (22.4%), including 4 genes related to syndrome, 4 related to conduction, 2 related to metabolism, 2 related to structure, 2 related to respiration and immunity, respectively, and trisomy 21. Altogether, 6 genes (6/14, 42.9%) caused original heart structure or conduction abnormalities, leading to arrhythmia. Infants with ventricular tachycardia or fibrillation, atrioventricular block and long-QT syndrome all had positive gene results. The gene positive rate among arrhythmic infants with congenital heart disease or severe heart failure was higher than that of infants without congenital heart disease or severe heart failure. Conclusions:The genetic disorders associated with neonatal arrhythmia could be syndrome-, conduction-, metabolism-, and structure-related. Infants with non-benign arrhythmia, especially ventricular tachycardia or fibrillation, long-QT syndrome, or high-grade atrioventricular block, have a higher rate of genetic abnormalities and should undergo genetic sequencing. Neonates with hereditary arrhythmias may have a higher risk of congenital heart disease or heart failure.

show abstract

Electrocardiographic Assessment and Genetic Analysis in Neonates: a Current Topic of Discussion

Cited by 7 publications

References 76 publications

Brugada Syndrome: Oligogenic or Mendelian Disease?

Brugada Syndrome: Oligogenic or Mendelian Disease?

Automatic Detection for Multi-Labeled Cardiac Arrhythmia Based on Frame Blocking Preprocessing and Residual Networks

Clinical and genetic spectrum of neonatal arrhythmia in a NICU

Contact Info

Product

Resources

About