Prevalence of common autosomal recessive mutation carriers in women in the Southern Vietnam following the application of expanded carrier screening.

The common autosomal recessive (AR) mutation carrier is still unknown in Vietnam. This study aims to identify the most common AR gene mutation carriers in women of reproductive age to build a Vietnamese-specific carrier screening panel for AR and X-linked disorders in the preconception and prenatal healthcare program. A cross-sectional study was conducted at University Medical Center-Branch 2 in Ho Chi Minh City from December 1st, 2020, to June 30th, 2023. 338 women have consented to take a 5 mL blood test to identify 540 recessive genes. The carrier screening panel was designed based on the American College of Medical Genetics and Genomics (ACMG)-recommended genes and suggestions from 104 clinical experts in Vietnam. Obstetricians and genetic experts counseled all positive testing results to discuss the possibility of recessive diseases in their offspring. The most common recessive disorders were defined at a prevalence of 1 in 60 or greater, and those were added to a Vietnamese-specific carrier screening panel. 338 non-pregnant and pregnant women underwent the expanded carrier screening (ECS). The carrier frequency was 63.6%, in which 215 women carried at least one AR gene mutation. GJB2 hearing impairment was identified as the most common chronic condition (1 in 5). The second most common AR disorder was beta-thalassemia (1 in 16), followed by cystic fibrosis (1 in 23), G6PD deficiency (1 in 28), Wilson's disease (1 in 31), Usher's syndrome (1 in 31), and glycogen storage disease (1 in 56). Seven common recessive genes were added in ethnic-based carrier screening. Women in the South of Vietnam have been carried for many recessive conditions at high frequency, such as hearing impairment, genetic anemia, and cystic fibrosis. It is necessary to implement a preconception and prenatal screening program by using seven widely popular AR genes in a Vietnamese-specific carrier screening panel to reduce the burden related to AR and X-linked disorders.

Prenatal diagnosis of non-typical Chiari malformation type I associated with de novo Nuclear Factor I A gene mutation: a case report.

BACKGROUND: Chiari malformation is one of the most common Central nervous system (CNS) abnormalities that can be detected in routine fetal scanning. Chiari malformation type I (CMI) is a congenital defect characterized by a displacement of the cerebellar tonsils through the foramen magnum. The etiology of CMI has not been well established and suggested having multifactorial contributions, especially genetic deletion. Clinical characteristics of this anomaly may express in different symptoms from neurological dysfunction and/or skeletal abnormalities in the later age, but it is rarely reported in pregnancy. CASE PRESENTATION: We present a case in which the Chiari malformation type I was diagnosed with comorbidities of facial anomalies (flatting forehead and micrognathia) and muscular-skeletal dysmorphologies (clenched hands and clubfeet) at the 24+6 weeks of gestation in a 29-year-old Vietnamese pregnant woman. The couple refused an amniocentesis, and the pregnancy was followed up every 4 weeks until a spontaneous delivery occurred at 38 weeks. The newborn had a severe asphyxia and seizures at birth required to have an emergency resuscitation at delivery. He is currently being treated in the intensive neonatal care unit. He carries the novel heterozygous NFIA gene mutation confirmed after birth. No further postnatal malformation detected. CONCLUSION: CMI may only represent with facial abnormalities and muscle-skeletal malformations at the early stage of pregnancy, which may also alert an adverse outcome. A novel heterozygous NFIA gene mutation identified after birth helps to confirm prenatal diagnosis of CMI and to provide an appropriate consultation.

Balance between solitude and socializing: everyday solitude time both benefits and harms well-being.

Two literatures argue that time alone is harmful (i.e., isolation) and valuable (i.e., positive solitude). We explored whether people benefit from a balance between their daily solitude and social time, such that having 'right' quantities of both maximizes well-being. Participants (n = 178) completed a 21-day diary study, which quantified solitude time in hours through reconstructing daily events. This procedure minimized retrospective bias and tested natural variations across time. There was no evidence for a one-size-fits-all 'optimal balance' between solitude and social time. Linear effects suggested that people were lonelier and less satisfied on days in which they spent more hours in solitude. These detrimental relations were nullified or reduced when daily solitude was autonomous (choiceful) and did not accumulate across days; those who were generally alone more were not, on the whole, lonelier. On days in which people spent more time alone they felt less stress and greater autonomy satisfaction (volitional, authentic, and free from pressure). These benefits were cumulative; those who spent more time alone across the span of the study were less stressed and more autonomy satisfied overall. Solitude time risks lowering well-being on some metrics but may hold key advantages to other aspects of well-being. PROTOCOL REGISTRATION: The stage 1 protocol for this Registered Report was accepted in principle on June 1, 2022. The protocol, as accepted by the journal, can be found at: https://doi.org/10.17605/OSF.IO/5KXQ3 .

Solitude profiles and psychological adjustment in Chinese late adolescence: a person-centered research.

Objectives: From the perspective of person-centered research, the present study aimed to identify the potential profiles of solitude among late adolescents based on their solitary behavior, motivation, attitude, and time alone. In addition, to echo the paradox of solitude, we further explored the links between solitude profiles and adjustment outcomes. Methods: The participants of the study were 355 late adolescents (56.34% female, M age = 19.71 years old) at three universities in Shanghai, China. Measures of solitary behavior, autonomous motivation for solitude, attitude toward being alone, and time spent alone were collected using adolescents' self-report assessments. The UCLA Loneliness Scale, the Beck Depression Inventory, and the Basic Psychological Needs Scales were measured as indices of adjustment. Results: Latent profile analysis revealed four distinct groups: absence of the aloneness group (21.13%), the positive motivational solitude group (29.01%), the negative motivational solitude group (38.03%), and the activity-oriented solitude group (11.83%). Differences emerged among these four groups in terms of loneliness, depressive symptoms, and basic needs satisfaction, with adolescents in the negative motivational solitude group facing the most risk of psychological maladjustment. Conclusion: Findings revealed the possible heterogeneous nature of solitude among Chinese late adolescents and provided a theoretical basis for further understanding of adolescents' solitary state.

Effect of Helicobacter pylori on non-homologous end joining-mediated repair of proximal DNA double-strand breaks in GCV6 cells.

Infection with Helicobacter pylori is the strongest known risk factor for gastric cancer, which is one of the leading causes of cancer-related mortality worldwide. H. pylori can contribute to carcinogenesis by inducing the genomic instability of infected cells through increasing accumulation of DNA double-stranded breaks (DSBs) and deregulating DSB repair systems. However, the mechanism of this phenomenon is still being elucidated. This study aims to investigate the impact of H. pylori on the efficacy of non-homologous end joining (NHEJ)-mediated repair of DSB. In this study, we used a human fibroblast cell line bearing a single copy of an NHEJ-reporter substrate stably inserted into the genome, which provides a quantitative measurement of NHEJ. Our results indicated the potential abilities of H. pylori strains to alter the NHEJ-mediated repair of proximal DSB in infected cells. In addition, we found an association between the alteration in the NHEJ efficiency, and the inflammation responses of infected cells caused by H. pylori.

The Psychological Science Accelerator's COVID-19 rapid-response dataset.

In response to the COVID-19 pandemic, the Psychological Science Accelerator coordinated three large-scale psychological studies to examine the effects of loss-gain framing, cognitive reappraisals, and autonomy framing manipulations on behavioral intentions and affective measures. The data collected (April to October 2020) included specific measures for each experimental study, a general questionnaire examining health prevention behaviors and COVID-19 experience, geographical and cultural context characterization, and demographic information for each participant. Each participant started the study with the same general questions and then was randomized to complete either one longer experiment or two shorter experiments. Data were provided by 73,223 participants with varying completion rates. Participants completed the survey from 111 geopolitical regions in 44 unique languages/dialects. The anonymized dataset described here is provided in both raw and processed formats to facilitate re-use and further analyses. The dataset offers secondary analytic opportunities to explore coping, framing, and self-determination across a diverse, global sample obtained at the onset of the COVID-19 pandemic, which can be merged with other time-sampled or geographic data.

Definitions of Solitude in Everyday Life.

What does it mean to be in solitude? Researchers building this nascent field are learning much about the potential affordances of solitude, but lack an agreed-upon definition or set of definitions. Arriving at that meaning is crucial to forming a solid foundation for studies that use both naturalistic and laboratory designs to explore outcomes of solitude. This study identified themes from semi-structured interviews with adults aged 19 to 80 from diverse backgrounds. We concluded that solitude is a state in which the dominant relationship is with the self. If not physically alone, people in solitude are mentally distanced from others and away from active technology-mediated interactions. Complete solitude involves both physical separation and inner focus, but solitude is best defined through a taxonomy that recognizes physical separation and internal focus as independent, sufficient characteristics. An internal focus benefits from (but is not defined by) balancing solitude with social time, quiet, and choice.

Real world outcomes of photodynamic therapy for chronic central serous chorioretinopathy.

OBJECTIVES: We describe the real-world outcomes of photodynamic therapy (PDT) for chronic central serous chorioretinopathy (CSCR) in a single centre over nine years. METHODS: We carried out a retrospective analysis of patients with chronic CSCR who received half dose PDT in a single centre between 2011 and 2019. Visual acuity (VA) and retinal thickness (RT) was recorded between baseline visit and first recorded review visit. RESULTS: We included 125 eyes of 113 patients in this study. Mean age at treatment was 55.0 ± 12.1 years, with a higher male predominance (83 men, 30 women). Mean baseline VA was 0.40 ± 0.31 logMAR with a mean visual outcome gain post-PDT of 0.05 logMAR (p = 0.005). Mean baseline RT was 390 ± 82 microns with a mean reduction of RT post-PDT of 66 microns (p < 0.001). 17.6% of eyes were treated for recurrent CSCR. CONCLUSION: We found overall a mean improvement in VA and structural outcomes after PDT. In the absence of randomised clinical trials this study supports the use of half dose PDT for treatment of chronic CSCR.

Who enjoys solitude? autonomous functioning (but not introversion) predicts self-determined motivation (but not preference) for solitude.

Within the solitude literature, two discrete constructs reflect different perspectives on how time spent alone is motivated. Self-determined motivation for solitude reflects wanting time alone to find enjoyment and gain meaningful benefits from it, whereas preference for solitude concerns wanting time for oneself over others' company regardless of reasons for why time alone is wanted. We investigated two personality characteristics: introversion from Big-Five personality theory and dispositional autonomy from self-determination theory. In two diary studies university students completed personality measures and reported about their experiences with time spent alone over a period of seven days. Across both studies, contrary to popular belief that introverts spend time alone because they enjoy it, results showed no evidence that introversion is predictive of either preference or motivation for solitude. Dispositional autonomy-the tendency to regulate from a place of self-congruence, interest, and lack of pressure-consistently predicted self-determined motivation for solitude but was unrelated to preference for solitude. These findings provided evidence supporting the link between valuing time spent alone with individual differences in the capacity to self-regulate in choiceful and authentic way.

Sweet Wormwood and Tortoise Shell Decoction (Thanh Hao Miet Giap Thang) Induces DNA Damage, S-Phase Arrest, and Apoptosis in MCF-7 Cells via ATR-CHK1 Signaling Pathway.

Introduction: Sweet wormwood and tortoise shell decoction, Thanh Hao Miet Giap Thang (THMGT) in Vietnamese, a traditional formula composed of five ingredients, is used in complementary care in Vietnam for patients who underwent conventional cancer treatment. To expand the clinical use and explore novel functions of THMGT, this study was conducted to investigate the effect of THMGT in terms of antiproliferative activity and selective cytotoxicity toward human breast cancer cells MCF-7. Methods: Cytotoxicity of THMGT against human breast cancer cells MCF-7 and primary fibroblasts from a heathy donor were studied using sulforhodamine B (SRB) assay. Flow cytometry analysis, immunofluorescence, and western blotting were also performed to elucidate underlying mechanisms of THMGT action. Results: The SRB assay on treated MCF-7 cells and primary fibroblasts from a heathy donor indicated selective cytotoxicity of THMGT with a selective index of 3.92. Annexin V/PI staining and flow cytometric analysis on stained MCF-7 cells showed that the THMGT-treated cells were arrested at the S phase and subsequently underwent apoptosis. Western blot analysis showed an upregulation of γ-H2AX, increased protein levels of phosphorylated CHK1, TP53, and phosphorylated TP53 in a time-dependent manner, and a downregulated expression of ATR and MDM2. Conclusion: These results suggested DNA damaging effect and ATR-CHK1-mediated cell cycle arrest of THMGT on MCF-7 cells resulting in apoptosis induction.

Microbial Diversity Analysis Using 16S rRNA Gene Amplicon Sequencing of Rhizosphere Soils from Double-Cropping Rice and Rice-Shrimp Farming Systems in Soc Trang, Vietnam.

Different rice farming systems affect the soil microbial communities. Here, we report the results of 16S rRNA gene amplicon sequencing of soils collected from intensive rice cultivation and rice-shrimp farming systems in Soc Trang, Vietnam. The dominant phyla in these systems were Firmicutes, Actinobacteriota, Chloroflexi, Myxococcota, and Acidobacteriota.

What Time Alone Offers: Narratives of Solitude From Adolescence to Older Adulthood.

Solitude - the state of being alone and not physically with another - can be rewarding. The present research explored the potential benefits of solitude from a pragmatist approach: a ground-up, top-down perspective that is receptive to new knowledge but informed by theory. Participant recruitment was stratified by age and gender, and the sample involved 2,035 individuals including adolescents (13-16 years), adults (35-55 years), or older adults (65+ years). Data were analyzed with a mixed-methods approach. Coded themes from brief narratives about solitude were extracted, and their frequencies (i.e., their salience to participants) were compared across the lifespan. Themes were then correlated with two indicators of well-being in solitude: self-determined motivation for solitude and peaceful mood. Several prominent themes emerged when talking about time spent in solitude. With the exception of feeling competent in solitude, which was described frequently but consistently unrelated to self-reported well-being regardless of age, benefits of solitude tended to shift over the lifespan. Some qualities, such as a sense of autonomy (self-connection and reliance; absence of pressure), were salient and consequential for everyone, but increasingly so from adolescence to older adulthood. Older adults also reported feeling most peaceful in solitude and described their social connection and alienation less frequently, suggesting they see solitude and social time as more distinct states. Findings are discussed in light of existing work on solitude across the lifespan, and theoretical frameworks that spoke well to the data (e.g., self-determination theory).

The endemic Helicobacter pylori population in Southern Vietnam has both South East Asian and European origins.

BACKGROUND: The burden of Helicobacter pylori-induced gastric cancer varies based on predominant H. pylori population in various geographical regions. Vietnam is a high H. pylori burden country with the highest age-standardized incidence rate of gastric cancer (16.3 cases/100,000 for both sexes) in Southeast Asia, despite this data on the H. pylori population is scanty. We examined the global context of the endemic H. pylori population in Vietnam and present a contextual and comparative genomics analysis of 83 H. pylori isolates from patients in Vietnam. RESULTS: There are at least two major H. pylori populations are circulating in symptomatic Vietnamese patients. The majority of the isolates (~ 80%, 66/83) belong to the hspEastAsia and the remaining belong to hpEurope population (~ 20%, 17/83). In total, 66 isolates (66/83) were cagA positive, 64 were hspEastAsia isolates and two were hpEurope isolates. Examination of the second repeat region revealed that most of the cagA genes were ABD type (63/66; 61 were hspEastAsia isolates and two were hpEurope isolates). The remaining three isolates (all from hspEastAsia isolates) were ABC or ABCC types. We also detected that 4.5% (3/66) cagA gene from hspEastAsia isolates contained EPIYA-like sequences, ESIYA at EPIYA-B segments. Analysis of the vacA allelic type revealed 98.8% (82/83) and 41% (34/83) of the strains harboured the s1 and m1 allelic variant, respectively; 34/83 carried both s1m1 alleles. The most frequent genotypes among the cagA positive isolates were vacA s1m1/cagA + and vacA s1m2/cagA + , accounting for 51.5% (34/66) and 48.5% (32/66) of the isolates, respectively. CONCLUSIONS: There are two predominant lineages of H. pylori circulating in Vietnam; most of the isolates belong to the hspEastAsia population. The hpEurope population is further divided into two smaller clusters.

Genetic Determinants and Genotype-Phenotype Correlations in Vietnamese Patients With Dilated Cardiomyopathy.

BACKGROUND: Dilated cardiomyopathy (DCM) is an important cause of heart failure and cardiac transplantation. This study determined the prevalence of DCM-associated genes and evaluated the genotype-phenotype correlation in Vietnamese patients.Methods and Results:This study analyzed 58 genes from 230 patients. The study cohort consisted of 64.3% men; age at diagnosis 47.9±13.7 years; familial (10.9%) and sporadic DCM (82.2%). The diagnostic yield was 23.5%, 44.0% in familial and 19.6% in sporadic DCM.TTNtruncating variants (TTNtv) were predominant (46.4%), followed byTPM1,DSP,LMNA,MYBPC3,MYH6,MYH7,DES,TNNT2,ACTC1,ACTN2,BAG3,DMD,FKTN,PLN,TBX5,RBM20,TCAP(2-6%). Familial DCM, genotype-positive andTTNtv-positive patients were younger than those with genotype-negative and sporadic DCM. Genotype-positive patients displayed a decreased systolic blood pressure and left ventricular wall thickness compared to genotype-negative patients. Genotype-positive patients, particularly those withTTNtv, had a family history of DCM, higher left atrial volume index and body mass index, and lower right ventricle-fractional area change than genotype-negative patients. Genotype-positive patients reached the combined outcomes more frequently and at a younger age than genotype-negative patients. Major cardiac events occurred more frequently in patients positive with genes other thanTTNtv. CONCLUSIONS: The study findings provided an overview of Vietnamese DCM patients' genetic profile and suggested that management of environmental factors may be beneficial for DCM patients.

A COVID-19 descriptive study of life after lockdown in Wuhan, China.

On 8 April 2020, the Chinese government lifted the lockdown and opened up public transportation in Wuhan, China, the epicentre of the COVID-19 pandemic. After 76 days in lockdown, Wuhan residents were allowed to travel outside of the city and go back to work. Yet, given that there is still no vaccine for the virus, this leaves many doubting whether life will indeed go back to normal. The aim of this research was to track longitudinal changes in motivation for self-isolating, life-structured, indicators of well-being and mental health after lockdown was lifted. We have recruited 462 participants in Wuhan, China, prior to lockdown lift between 3 and 7 April 2020 (Time 1), and have followed up with 292 returning participants between 18 and 22 April 2020 (Time 2), 284 between 6 and 10 May 2020 (Time 3), and 279 between 25 and 29 May 2020 (Time 4). This four-wave study used latent growth models to examine how Wuhan residents' psychological experiences change (if at all) within the first two months after lockdown was lifted. The Stage 1 manuscript associated with this submission received in-principle acceptance (IPA) on 2 June 2020. Following IPA, the accepted Stage 1 version of the manuscript was preregistered on the OSF at https://osf.io/g2t3b. This preregistration was performed prior to data analysis. Generally, our study found that: (i) a majority of people still continue to value self-isolation after lockdown was lifted; (ii) by the end of lockdown, people perceived gradual return to normality and restored structure of everyday life; (iii) the psychological well-being slightly improved after lockdown was lifted; (iv) people who used problem solving and help-seeking as coping strategies during lockdown had better well-being and mental health by the end of the lockdown; (v) those who experienced more disruptions in daily life during lockdown would display more indicators of psychological ill-being by the end of the lockdown.

Motivation and preference in isolation: a test of their different influences on responses to self-isolation during the COVID-19 outbreak.

This multi-wave study examined the extent that both preference and motivation for time alone shapes ill-being during self-isolation. Individuals in the USA and the UK are self-isolating in response to the COVID-19 outbreak. Different motivations may drive their self-isolation: some might see value in it (understood as the identified form of autonomous motivation), while others might feel forced into it by authorities or close others (family, friends, neighbourhoods, doctors; the external form of controlled motivation). People who typically prefer company will find themselves spending more time alone, and may experience ill-being uniformly, or as a function of their identified or external motivations for self-isolation. Self-isolation, therefore, offers a unique opportunity to distinguish two constructs coming from disparate literatures. This project examined preference and motivation (identified and external) for solitude, and tested their independent and interacting contributions to ill-being (loneliness, depression and anxiety during the time spent alone) across two weeks. Confirmatory hypotheses regarding preference and motivation were not supported by the data. A statistically significant effect of controlled motivation on change in ill-being was observed one week later, and preference predicted ill-being across two weeks. However, effect sizes for both were below our minimum threshold of interest.

Microbiome dataset analysis from a shrimp pond in Ninh Thuan, Vietnam using shotgun metagenomics.

Vietnam is one of the top shrimp producing and exporting countries in the world [1]. However, viral and bacterial epidemic diseases cause severe damages to shrimp farming, resulting in millions of US dollars losses annually [2]. Furthermore, inappropriate use of antibiotics in shrimp rearing lead to increased emergence of drug resistant pathogens [3]. Current practices for water quality control, mostly based on chemical and physical parameters; neglected biological criteria necessary for maintaining pond health. Ninh Thuan is a region situated in the South Central Coast of Vietnam. Due to its geographic location, a large part of this region is dedicated to shrimp (Litopenaeus vannamei) post-larvae production and rearing. This article presents a microbiome dataset from two water samples collected in a shrimp rearing pond in Ninh Thuan. We used Oxford Nanopore Technologies (ONT) for metagenomic sequencing of the samples to characterize microbial communities and antibiotic resistance profiles. The metagenome dataset generated will provide an understanding and comparison framework of the microbial diversity and functionality among shrimp ponds with potential application in health management and shrimp rearing industry.

The emergence of plasmid-borne cfr-mediated linezolid resistant-staphylococci in Vietnam.

OBJECTIVES: Linezolid is one of the last resort antibiotics effectively used in the treatment of infections caused by multidrug-resistant Gram-positive bacteria. Recent outbreaks of Linezolid resistance have been the great concern worldwide, while many countries have not experienced it. In this work, we aimed to evaluate the existence of linezolid resistance and further clarify potential resistance mechanism(s) in staphylococcal isolates obtained from the hospital in Vietnam, a country in which linezolid resistance had not been previously detected. METHODS: Seventy staphylococcal clinical isolates including MRSA (n=63) and methicillin-resistant coagulase-negative staphylococci (MRCNS, n=7) were collected and analyzed for linezolid resistance. Linezolid-resistant isolates were submitted for whole genome sequencing to search for the resistance determinants. RESULTS: We identified two coagulase-negative staphylococcal isolates that were resistant to linezolid. Whole genome sequencing revealed several alterations in the 23S rRNA and L3, L17, L22, L24, L30 ribosomal proteins. Importantly, both isolates harbour the chloramphenicol/florfenicol resistance (cfr) gene on a plasmid. The plasmid was closely identical to the pLRSA417 plasmid that was originally reported in China. CONCLUSIONS: To the best of our knowledge, this is the first report of cfr-mediated linezolid resistance in clinically isolated staphylococci in Vietnam. We suggest that adequate surveillance is necessary to monitor the dissemination of linezolid resistance among staphylococcal species and other important pathogens.

Mannitol Role in the Management of Intradialytic Hypotension.

BACKGROUND, AREAS OF UNCERTAINTY: Intradialytic hypotension (IDH) is one of the most common complications of the hemodialysis procedure. Although there are no clear-cut answers as to the best strategy on the management of IDH, data suggest that the administration of osmotically active drugs may decrease the occurrence of blood pressure decline during dialysis. The use of mannitol for IDH management in hemodialysis patients is scarce. This article highlights the use and benefits of mannitol and to assess the role of mannitol role in the management of IDH. DATA SOURCES: Primary literature identified through MEDLINE/PubMed database and Google Scholar with no restrictions. Relevant and current literatures related to mannitol and IDH were used. RESULTS AND DATA SYNTHESIS: Multiple studies have shown the benefits of mannitol for the management of IDH. Because of its oncotic effect, mannitol increases plasma osmolality to maintain adequate blood pressure and prevent the occurrence of IDH. Two observational studies and several reports were identified as being the most recent and applicable to clinical practice. Studies and data on the use of mannitol in IDH are scarce or outdated. The 2 studies used in this article conclude that mannitol carries benefits for both the adult and pediatric population. However, additional research in the future will be needed to confirm the evidence for various age groups. These 2 observational trials were also very small in number, and any future studies conducted should have a longer duration and larger population size. Although lacking data, these studies will suffice in introducing the benefits of mannitol in IDH. CONCLUSIONS: Mannitol may be considered for the management of IDH; however, additional studies are required to evaluate the long-term risk and benefits associated with mannitol, as it carries a risk of accumulation in the body.

Presence of Hypertrophic Cardiomyopathy Related Gene Mutations and Clinical Manifestations in Vietnamese Patients With Hypertrophic Cardiomyopathy.

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is associated primarily with pathogenic mutations in sarcomeric genes. The aim of this study was to identify the prevalence and distribution of disease-causing mutations in HCM-associated genes and the genotype-phenotype relationship in Vietnamese patients with HCM.Methods and Results:Genetic testing was performed by next-generation sequencing in 104 unrelated probands for 23 HCM-related genes and in 57 family members for the mutation(s) detected. Clinical manifestations were recorded for genotype-phenotype correlation analysis. Mutation detection rate was 43.4%. Mutations inMYBPC3accounted for 38.6%, followed byTPM1(20.5%),MYH7(18.2%),TNNT2(9.1%),TNNI3(4.5%) andMYL2(2.3%). A mutation inGLAassociated with Fabry disease was found in 1 patient. A mutation inTPM1(c.842T>C, p.Met281Thr) was identified in 8 unrelated probands (18.2%) and 8 family members from 5 probands. Genotype-positive status related toMYH7,TPM1, andTNNT2mutations was associated with severe clinical manifestations.MYH7-positive patients displayed worse prognosis compared withMYBPC3-positive patients. Interestingly,TPM1c.842T>C mutation was associated with high penetrance and severe HCM phenotype. CONCLUSIONS: We report for the first time the prevalence of HCM-related gene variants in Vietnamese patients with HCM.MYH7,TPM1, andTNNT2mutations were associated with unfavorable prognosis.