Publications by authors named "Apichai Khongphatthanayothin"

Article Synopsis
  • Brugada syndrome (BrS) is a hereditary cardiac disorder linked to sudden death in young adults, particularly prevalent in Southeast Asia, with certain genetic variants associated with the condition.
  • Researchers conducted genome sequencing on individuals with BrS and matched controls in Thailand to find rare noncoding variants that are more common in BrS patients.
  • A specific rare variant was identified that disrupts a transcription factor binding site, causing reduced gene expression and reduced sodium current in heart cells, contributing to the high prevalence of BrS in the region and identifying at-risk individuals.
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Pathogenic BAG5 variants recently linked to dilated cardiomyopathy (DCM) prompt further investigation into phenotypic, mutational, and pathomechanistic aspects. We explored the clinical and molecular characteristics of DCM associated with BAG5 variants, uncovering the consistently severe manifestations of the disease and its impact on the endoplasmic reticulum (ER) stress response. The analysis involved three siblings affected by DCM and arrhythmia, along with their four unaffected siblings, their unaffected father, and their mother who exhibited arrhythmia.

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Background And Aims: Brugada syndrome (BrS) is an inherited arrhythmia with a higher disease prevalence and more lethal arrhythmic events in Asians than in Europeans. Genome-wide association studies (GWAS) have revealed its polygenic architecture mainly in European populations. The aim of this study was to identify novel BrS-associated loci and to compare allelic effects across ancestries.

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Article Synopsis
  • Severe pulmonary hypertension (PH) in children is rare but can be life-threatening, as seen in two cases linked to scurvy and iron deficiency anemia due to poor dietary habits.
  • The first case involved a 2-year-old boy with symptoms including vomiting and hypotension, diagnosed with transient PH and low vitamin C levels, while the second case was a 6-year-old boy experiencing acute dyspnea and undetectable vitamin C levels.
  • Treatment with vitamin C rapidly reversed the pulmonary hypertension in both cases, underscoring the condition's preventability and the need for proper diagnosis and dietary management.
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Loss of function variants in ALPK3 have been associated with dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM). However, the underlying pathomechanism remain largely unknown. Here, we generated human iPSC lines from four HCM patients carrying the heterozygous pathogenic variant in ALPK3 (c.

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  • Recent reports indicate that playing electronic games can lead to dangerous heart rhythm issues in vulnerable kids.
  • A study identified 22 children aged 7-16 who experienced serious cardiac events while gaming, with some suffering cardiac arrest and even fatalities.
  • Most affected children had pre-existing heart conditions, and electronic war games, in particular, were common among those diagnosed with arrhythmias during gameplay.
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Variant imputation, a common practice in genome-wide association studies, relies on reference panels to infer unobserved genotypes. Multiple public reference panels are currently available with variations in size, sequencing depth, and represented populations. Currently, limited data exist regarding the performance of public reference panels when used in an imputation of populations underrepresented in the reference panel.

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Background: Treatment options for high-risk Brugada syndrome (BrS) with recurrent ventricular fibrillation (VF) are limited. Catheter ablation is increasingly performed but a large study with long-term outcome data is lacking. We report the results of the multicenter, international BRAVO (Brugada Ablation of VF Substrate Ongoing Registry) for treatment of high-risk symptomatic BrS.

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Brugada syndrome (BS) is an autosomal dominant inheritance cardiac arrhythmia disorder associated with sudden death in young adults. Thailand has the highest prevalence of BS worldwide, and over 60% of patients with BS still have unclear disease etiology. Here, we performeda new viral metagenome analysis pipeline called VIRIN and validated it with whole genome sequencing (WGS) data of HeLa cell lines and hepatocellular carcinoma.

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Our group began investigating the cause of sudden unexplained death syndrome in Thailand in 1994 and found that among sudden unexplained death syndrome patients, the Brugada phenotype was ubiquitous. Following this important observation, Brugada syndrome (BrS) became our main research focus and has galvanized our collaboration with several global prominent scientists over the past 30 years. Through this collaborative research, we made major progress toward better understanding of the syndrome and gained knowledge in genetic background, pathophysiology, and new management.

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Pathogenic variants in SMARCA4 cause Coffin-Siris syndrome (CSS) while those in SMAD6 lead to aortic valve disease and other dysmorphisms. We identified a 6-year-old Thai boy with features of CSS alongside unusual manifestations including, very severe coarctation of the aorta (CoA) requiring coarctectomy in the neonatal period and bilateral radioulnar synostoses. Trio exome sequencing revealed that the patient harbored two de novo variants, a missense c.

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Background: Severe acute respiratory syndrome coronavirus 2 vaccination reduces morbidity and mortality associated with coronavirus disease 2019 (COVID-19); unfortunately, it is associated with serious adverse events, including sudden unexplained death (SUD).

Objective: We aimed to study the genetic basis of SUD after COVID-19 vaccination in Thailand.

Methods: From April to December 2021, cases with natural but unexplained death within 7 days of COVID-19 vaccination were enrolled for whole exome sequencing.

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Publicly available pharmacogenomics (PGx) databases enable translation of genotype data into clinically actionable information. As variation within pharmacogenes is population-specific, this study investigated the spectrum of 25 clinically relevant pharmacogenes in the Thai population (n = 291) from whole genome sequencing. The bioinformatics tool Stargazer was used for phenotype prediction, through assignment of alleles and detection of structural variation.

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Article Synopsis
  • Mutations in SCN5A are rare in Thai patients with Brugada syndrome (BrS), prompting a study to identify both common and rare genetic variants linked to the condition in Thailand.
  • A genome-wide association study (GWAS) involving 154 BrS cases and 432 controls revealed significant associations with two loci: one near SCN5A/SCN10A and another near HEY2, suggesting these regions are important in understanding BrS genetics.
  • The study also found a higher prevalence of rare and low-frequency coding variants in SCN5A among BrS patients, indicating a diverse genetic background for the disorder in the Thai population, similar to findings in European and Japanese groups.
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This article has been withdrawn at the request of the Publisher. The Publisher apologizes for any inconvenience this may cause. The full Elsevier Policy on Article Withdrawal can be found at https://www.

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Background: We conducted a multicenter study to evaluate mapping and ablation of ventricular fibrillation (VF) substrates or VF triggers in early repolarization syndromes (ERS) or J-wave syndrome (JWS).

Methods: We studied 52 patients with ERS (4 women; median age, 35 years) with recurrent VF episodes. Body surface electrocardiographic imaging and endocardial and epicardial electroanatomical mapping of both ventricles were performed during sinus rhythm and VF for localization of triggers, substrates, and drivers.

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Takotsubo syndrome is a rare cause of reversible ventricular dysfunction that imitate an acute coronary syndrome. The entity is unusual among pediatric populations and a recurrent episode is extremely rare. We report a case of recurrent takotsubo syndrome in an eight-year-old boy with Duchenne muscular dystrophy (DMD).

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Background: Congenital long QT syndrome (LQTS) is an inheritable arrhythmic disorder which is linked to at least 17 genes. The clinical characteristics and genetic mutations may be variable among different population groups and they have not yet been studied in Thai population.

Methods: Clinical characteristics were retrospectively reviewed from children and young adults with congenital long QT syndrome whose blood samples were sent for genotyping during 1998-2017.

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Background: Rare genetic variants in TNNI3K encoding troponin-I interacting kinase have been linked to a distinct syndrome consisting primarily of supraventricular tachycardias and variably expressed conduction disturbance and dilated cardiomyopathy in 2 families.

Objective: The purpose of this study was to identify new genetic variants associated with inherited supraventricular tachycardias, cardiac conduction disease, and cardiomyopathy.

Methods: We conducted next generation sequencing in 3 independent multigenerational families with atrial/junctional tachycardia with or without conduction disturbance, dilated cardiomyopathy, and sudden death.

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Background: Congenital long QT syndrome (LQTS) is a genetically transmitted cardiac channelopathy that can lead to lethal arrhythmia and sudden cardiac death in healthy young people. The clinical characteristics of LQTS are variable and depend on the subtype of long QT syndrome, which differ among populations. This single hospital-based case review study examined the clinical presentation of long QT syndrome and the outcomes of its treatment in 20 Thai children at King Chulalongkorn Memorial Hospital in Bangkok, Thailand.

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