Comparative transcription profiling of mRNA and lncRNA in pulmonary arterial hypertension after C75 treatment.

OBJECTIVES: To investigate mRNA and long non-coding RNA (lncRNA) expression profiles in monocrotaline (MCT)- mice. MATERIALS AND METHODS: Lung tissues (Control-Vehicle, MCT-Vehicle, and MCT-C75) were examined by high-throughput sequencing (HTS). Aberrantly expressed mRNAs and lncRNAs were analyzed by bioinformatics. Cell proliferation and cell cycle analysis were performed to detect the potential protective effects of C75, an inhibitor of fatty acid synthase. The signaling pathways associated with inflammatory responses were verified by real time-PCR. RESULTS: RNA sequencing data reveals 285 differentially expressed genes (DEGs) and 147 lncRNAs in the MCT-Vehicle group compared to the control. After five-week of C75 treatment, 514 DEGs and 84 lncRNAs are aberrant compared to the MCT-Vehicle group. Analysis of DEGs and lncRNA target genes reveals that they were enriched in pathways related to cell cycle, cell division, and vascular smooth muscle contraction that contributes to the PAH pathological process. Subsequently, the expression of eight DEGs and three lncRNAs is verified using RT-PCR. Differentially expressed lncRNAs (ENSMUSG00000110393.2, Gm38850, ENSMUSG00000100465.1, ENSMUSG00000110399.1) may associate in PAH pathogenesis as suggested by co-expression network analysis. C75 can protect against MCT-induced PAH through its anti-inflammatory and anti-proliferation. CONCLUSIONS: These DEGs and lncRNAs can be considered as novel candidate regulators of PAH pathogenesis. We propose that C75 treatment can partially reverse PAH pathogenesis through modulating cell cycle, cell proliferation, and anti-inflammatory.

Life-threatening arrhythmias with autosomal recessive TECRL variants.

AIMS: Sudden death and aborted sudden death have been observed in patients with biallelic variants in TECRL. However, phenotypes have only begun to be described and no data are available on medical therapy after long-term follow-up. METHODS AND RESULTS: An international, multi-centre retrospective review was conducted. We report new cases associated with TECRL variants and long-term follow-up from previously published cases. We present 10 cases and 37 asymptomatic heterozygous carriers. Median age at onset of cardiac symptoms was 8 years (range 1-22 years) and cases were followed for an average of 10.3 years (standard deviation 8.3), right censored by death in three cases. All patients on metoprolol, bisoprolol, or atenolol were transitioned to nadolol or propranolol due to failure of therapy. Phenotypes typical of both long QT syndrome and catecholaminergic polymorphic ventricular tachycardia (CPVT) were observed. We also observed divergent phenotypes in some cases despite identical homozygous variants. None of 37 heterozygous family members had a cardiac phenotype. CONCLUSION: Patients with biallelic pathogenic TECRL variants present with variable cardiac arrhythmia phenotypes, including those typical of long QT syndrome and CPVT. Nadolol and propranolol may be superior beta-blockers in this setting. No cardiac disease or sudden death was present in patients with a heterozygous genotype.

Randomized trial of different initial intravenous immunoglobulin regimens in Kawasaki disease.

BACKGROUND: We aimed to assess the efficacy of different initial intravenous immunoglobulin (IVIG) regimens in Kawasaki disease (KD) patients to find more cost-effective therapy options. METHODS: A multicenter, open-label, blind-endpoint randomized controlled trial was conducted from January 2014 to December 2015. Patients with KD, within 10 days of illness, were randomly assigned to receive different IVIG regimens (Group A, 2 g/kg once; Group B, 1 g/kg for 2 consecutive days; Group C, 1 g/kg once) and aspirin 30mg/kg/d. Primary outcomes included hours to defervescence and development of coronary artery lesions during the study period. Major secondary outcomes included total fever days, total dose of IVIG, changes of laboratory data, length of stay, and hospitalization expenses. (ClinicalTrials.gov: NCT02439996). RESULTS: A total of 404 patients underwent randomization. No difference was found in the outcomes of defervescence among three groups at 6, 12, 24, and 36 hours after completion of initial IVIG infusion. There were no differences in the incidence of coronary artery lesions during the study period (at week 2, month 1, month 3, and month 6 of illness), changes of laboratory data, total fever days, and length of stay. Group C patients had the lowest total dose of IVIG (mean: 1.2 vs 2.2 vs 2.1 g/kg; P < 0.001) and hospitalization expenses (mean: 8443.8 vs 10798.4 vs 11011.4 Chinese Yuan; P < 0.001) than other two groups. CONCLUSIONS: A single dose of 1g/kg IVIG is a low-cost treatment with the same efficacy as 2 g/kg IVIG and can be an option for the initial therapy of KD patients.

A 10-year-old boy with dyspnea and hypoxia: abernathy malformation masquerading as pulmonary arteriovenous fistula.

BACKGROUND: Abernethy malformation is an extremely rare congenital malformation characterised by an extrahepatic portosystemic shunt. Children with Abernathy malformation can develop hepatopulmonary syndrome (HPS) with pulmonary arteriovenous fistulas (PAVF) or pulmonary hypertension. PAVF manifests as central cyanosis with effort intolerance. We report a case of PAVF in a Ten-year-old Boy. Persistent symptoms identified Abernathy malformation as the cause of progressive symptoms and current understanding of this rare malformation is reviewed. CASE PRESENTATION: A case of 10-year-old boy with Abernethy malformation complicated with HPS initially managed as PAVF was presented. Selective lung angiography showed a typical diffuse reticular pattern on right lower lung, which suggested PAVF. However, cyanosis was not improved post transcatheter coil embolization. Then, liver disease was considered although the patient had normal aspartate aminotransferase and alanine aminotransferase. The significantly elevated serum ammonia was attracted our attention. Abdominal computed tomography also exhibited enlarged main portal vein (MPV), cirsoid spleen vein, and superior mesenteric vein (SMV). Angiography with direct opacification of the SMV with a catheter coming from the inferior vena cava (IVC) and going to the SMV via the shunt vessel (SHUNT) between the MPV and IVC. Occlusion the IVC with an inflated balloon, injection of contrast medium via a catheter placed in the SMV, MPV was showed and absence of intrahepatic branches. Abernethy malformation IB type is finally confirmed. CONCLUSIONS: Abernethy malformation is an unusual cause for development of PAVF and cyanosis in children. Clinicians must be suspicious of Abernethy malformation complicated with HPS. If patients have abnormal serum ammonia and enlarged MPV in abdominal CT, cathether angiography should be done to rule out Abernethy malformation.

Quantitative evaluation of myocardial fibrosis by cardiac integrated backscatter analysis in Kawasaki disease.

BACKGROUND: Kawasaki disease is an acute, systemic vasculitis that affects the coronary arteries. However, the relationship between myocardial fibrosis and Kawasaki disease has been completely unknown until now. We aimed to provide quantitative information about myocardial fibrosis using cardiac integrated backscatter in Han race Kawasaki disease patients. METHODS: Ninety Kawasaki disease patients and 90 healthy control subjects were recruited. Based on Kawasaki disease status, the patients were categorized into 3 groups: acute, subacute, and convalescence phase. Based on coronary artery status, the Kawasaki disease patients were categorized into 3 groups: without coronary artery lesions, with coronary artery dilation, and with coronary artery aneurysms. All subjects underwent two-dimensional and Doppler examinations to measure clinical echocardiographic parameters. Myocardial fibrosis was detected with calibrated integrated backscatter imaging. RESULTS: Left ventricle systolic functions were normal in both the Kawasaki disease and control participants. The myocardial calibrated integrated backscatter values of the left ventricles of the acute (p < 0.001), subacute (p < 0.001) and convalescence phase (p < 0.001) Kawasaki disease patients were significantly greater than those of the healthy controls. The left ventricle myocardial calibrated integrated backscatter values were significantly smaller in the Kawasaki disease patients without coronary artery lesions than in the Kawasaki disease patients with coronary artery dilations and coronary artery aneurysms in different phases. The left ventricle myocardial calibrated integrated backscatter results were positively correlated with coronary artery status in the acute (r = 0.331, p < 0.001), subacute (r = 0.456, p < 0.001) and convalescence phases (r = 0.407, p < 0.001) of Kawasaki disease. CONCLUSION: Our findings may suggest that myocardial fibrosis occurs during early episodes of Kawasaki disease given uncertainties that exist regarding correlations of calibrated integrated backscatter and myocardial fibrosis.

Coronary artery fistula between single right coronary artery and right pulmonary artery: a case report and literature review.

BACKGROUND: Coronary artery fistula and single coronary artery are two different rare congenital anomalies. The cases with co-existed the two anomalies are more rare. To the best of our knowledge with literature review, the coronary artery fistula between single right coronary artery and right pulmonary artery has not been previously reported. CASE PRESENTATION: In the present article, we report a Chinese patient (a 8-month-old male) who presented cyanosis when cried and heart murmur. The cardiac angiography confirmed coronary artery fistula between single coronary artery arising from the right aortic sinus and right pulmonary artery. Furthermore, the right pulmonary artery was interrupted with main pulmonary artery and the pulmonary blood supplied by single right coronary artery. Following the surgical procedure, the anomalous fistula vessel was cut and sutured. The right pulmonary artery was reconstructed to connect with main pulmonary artery. The patient had an uneventful postoperative course and discharged. Then we reviewed the related literature with Medline and Pubmed databases for further details. CONCLUSION: We believe our patient is the very particular case about coronary artery fistula combined with single coronary artery, and it is first reported with our literature review. As other coronary anomalies, coronary or aortic root angiography is the gold standard method for the diagnosis. Furthermore, early surgery is an optimal treatment in our case.

Transcriptome analysis of effects of Tecrl deficiency on cardiometabolic and calcium regulation in cardiac tissue.

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a hereditary heart disease characterized by bidirectional or polymorphic ventricular tachycardia and an increased risk of sudden cardiac death. Although trans-2,3-enoyl-CoA reductase like (TECRL) is a newly reported pathogenic gene leading to CPVT that can influence intracellular calcium regulation, the unidentified mechanism underlying the pathogenesis of TECRL deficiency-mediated CPVT remains mainly elusive. In the present study, Tecrl knockout (KO) mice were established and the differentially expressed genes (DEGs) were investigated by RNA-sequencing from the heart tissues. In addition, 857 DEGs were identified in Tecrl KO mice. Subsequently, a weighted gene co-expression network analysis was conducted to discern the pivotal pathways implicated in the Tecrl-mediated regulatory network. Moreover, pathway mapping analyses demonstrated that essential metabolism-related pathways were significantly enriched, notably the fatty acid metabolic process and calcium regulation. Collectively, the data suggested a synergistic relationship between Tecrl deficiency and cardiometabolic and calcium regulation during the development of CPVT. Therefore, further studies on the potential function of TECRL in cardiac tissues would be beneficial to elucidate the pathogenesis of CPVT.

DSCA-Net: A depthwise separable convolutional neural network with attention mechanism for medical image segmentation.

Accurate segmentation is a basic and crucial step for medical image processing and analysis. In the last few years, U-Net, and its variants, have become widely adopted models in medical image segmentation tasks. However, the multiple training parameters of these models determines high computation complexity, which is impractical for further applications. In this paper, by introducing depthwise separable convolution and attention mechanism into U-shaped architecture, we propose a novel lightweight neural network (DSCA-Net) for medical image segmentation. Three attention modules are created to improve its segmentation performance. Firstly, Pooling Attention (PA) module is utilized to reduce the loss of consecutive down-sampling operations. Secondly, for capturing critical context information, based on attention mechanism and convolution operation, we propose Context Attention (CA) module instead of concatenation operations. Finally, Multiscale Edge Attention (MEA) module is used to emphasize multi-level representative scale edge features for final prediction. The number of parameters in our network is 2.2 M, which is 71.6% less than U-Net. Experiment results across four public datasets show the potential and the dice coefficients are improved by 5.49% for ISIC 2018, 4.28% for thyroid, 1.61% for lung and 9.31% for nuclei compared with U-Net.

Serum Metabolomic Profile in Hypoxia-Induced Pulmonary Hypertension Mice after C75 Treatment.

BACKGROUND: Inhibition of fatty acid synthase (FAS) plays a crucial protective role in pulmonary hypertension (PH). Our aim was to identify novel metabolites in mice with hypoxia-induced PH after treatment with C75 (FAS inhibitor) and to confirm the presence of these metabolites in paediatric patients with PH. METHODS: The PH mouse model was built by chronic hypoxia and ovalbumin (OVA) assistance. Untargeted metabolomics was used to analyse mouse serum. Six children with PH and six relative controls (patients without lung and heart disease) were selected in Shanghai Children's Hospital and they all performed blood tandem mass spectrometry during hospitalization. RESULTS: First, a total of 29 differential metabolites, including lipid metabolites, polyamine, and glutamine were identified as differential metabolites in the hypoxia group compared with the control group. After C75 treatment, symptoms were partially relieved in the PH mouse, and 15 differential metabolites, including lipid metabolites, polyamine, and glutamine were identified in the hypoxia + C75 group compared with the hypoxia group. These differential metabolites were enriched in arginine and glycerolipid metabolism through metabolite set enrichment analyses and were involved in excessive cell proliferation, which was a characteristic of PH. Second, glutamine and caproyl carnitine levels were increased in paediatric patients with PH. CONCLUSIONS: FAS may be a potential PH therapeutic target. Lipid metabolites, polyamine, and glutamine, are closely related to PH. Putrescine and glutamine might be biomarkers for PH.

Construction of ecological security pattern in Ningbo based on remote sensing ecological index and graph theory knowledge.

Constructing ecological security pattern and identifying ecological important areas are the focus of current research on regional ecological security. With Ningbo City as a case study area, we identified ecological sources by remote sensing ecological index, the ecological corridors and pinch point by circuit theory model, and the minimum spanning tree and cuts by graph theory algorithm. The results showed that there were 203 ecological sources in Ningbo, and that the main type of land cover was forest, including a small amount of paddy fields and flooded vegetation. There were 368 ecological corridors with a total length of 573.42 km, being dense in the southwest and sparse in the northeast. There were 91 ecological pinch points, which mainly distributed between coastal areas and closely related ecological sources. According to current situation, we put forward the optimization strategy with 187 primary corridors, 181 secondary corridors, 50 ecological restoration priority areas and 59 long-term ecological restoration areas. The optimization strategy combined with graph theory and circuit theory model would provide a refe-rence for the constructing of ecological security pattern.

Generation of an induced pluripotent stem cell line from a Chinese Han child with catecholaminergic polymorphic ventricular tachycardia.

TECRL, first reported in a Sudanese family with catecholaminergic polymorphic ventricular tachycardia (CPVT) in 2016. TECRL, is an endoplasmic reticulum (ER) protein preferentially expressed in the heart, playing a role in cardiomyocyte calcium homeostasis. Using Sendaivirus-mediated reprogramming, we generated an induced pluripotent stem cell (iPSC) line from the CPVT patient's peripheral blood mononuclear cell. The iPSC exhibited stable amplification, expressed pluripotent markers, and differentiated spontaneously into three layers in vitro. Additionally, the iPSC line maintained a normal karyotype, retained the pathogenic TECRL mutation, and the cell resource facilitated a platform to explore the CPVT mechanisms related to TECRL mutations.

TECRL deficiency results in aberrant mitochondrial function in cardiomyocytes.

Sudden cardiac death (SCD) caused by ventricular arrhythmias is the leading cause of mortality of cardiovascular disease. Mutation in TECRL, an endoplasmic reticulum protein, was first reported in catecholaminergic polymorphic ventricular tachycardia during which a patient succumbed to SCD. Using loss- and gain-of-function approaches, we investigated the role of TECRL in murine and human cardiomyocytes. Tecrl (knockout, KO) mouse shows significantly aggravated cardiac dysfunction, evidenced by the decrease of ejection fraction and fractional shortening. Mechanistically, TECRL deficiency impairs mitochondrial respiration, which is characterized by reduced adenosine triphosphate production, increased fatty acid synthase (FAS) and reactive oxygen species production, along with decreased MFN2, p-AKT (Ser473), and NRF2 expressions. Overexpression of TECRL induces mitochondrial respiration, in PI3K/AKT dependent manner. TECRL regulates mitochondrial function mainly through PI3K/AKT signaling and the mitochondrial fusion protein MFN2. Apoptosis inducing factor (AIF) and cytochrome C (Cyc) is released from the mitochondria into the cytoplasm after siTECRL infection, as demonstrated by immunofluorescent staining and western blotting. Herein, we propose a previously unrecognized TECRL mechanism in regulating CPVT and may provide possible support for therapeutic target in CPVT.

Case Report: Novel LIM domain-binding protein 3 (LDB3) mutations associated with hypertrophic cardiomyopathy family.

Hypertrophic cardiomyopathy (HCM) is an autosomal dominant cardiomyopathy, which is one of the most common reasons for cardiac arrest in children or adolescents. It is characterized by ventricular hypertrophy (usually left ventricle), small ventricular cavity, and reduced ventricular diastolic compliance found by echocardiography in the absence of abnormal load (such as hypertension or aortic stenosis). HCM is usually caused by mutations in genes encoding sarcomere or sarcomere-related genes. Whole exome sequencing (WES) is performed to identify probable causative genes. Through WES, we identified LIM domain-binding protein 3 (LDB3) mutations (R547Q and P323S) respectively in an 11-year-old HCM girl and a 6-year-old HCM boy. Neural network analyses showed that the LDB3 (R547Q and P323S) mutation decreased its protein stability, with confidence scores of -0.9211 and -0.8967. The STRUM server also confirmed that the mutation decreased its protein stability. Thus, LDB3 mutation may be associated with heritable HCM. To our knowledge, this is the first time to report LDB3 heterozygous variants (R547Q and P323S) responsible for heritable HCM.

Associations between Objective and Subjective Housing Status with Individual Mental Health in Guangzhou, China.

Housing is an important social determinant of mental health. However, few studies simultaneously measure the objective housing status (i.e., housing tenure, living space, housing conditions, and housing stability) and subjective housing status (i.e., housing satisfaction) as well as examine their effects on people's mental health (i.e., stress, anxiety, and depression). Thus, using a sample size of 1003 participants by two-stage random sampling survey in Guangzhou, China, this study applies multivariate ordinary least square regression models to comprehensively explore and compare the associations between objective and subjective housing status with mental health, and then analyze the moderating effects of subjective housing status on the relationships between objective housing status and mental health. The findings suggest that there are significant differences in people's mental health based on different housing status. The subjective housing status can better explain the variances in mental health than objective housing status. Also, subjective housing status may partly mitigate the adverse impacts of objective housing disadvantages on some aspects of an individual's mental health. Therefore, housing improvement policies and public health initiatives should be designed based on a comprehensive account of objective and subjective housing characteristics as well as their influences on specific aspects of mental health.

Generation of an induced pluripotent stem cell line from a Chinese Han child with arrhythmia.

CTNNA3, first reported in association with arrhythmogenic right ventricular cardiomyopathy in 2003, is an unique component of both desmosomes and adherens junctions. Using Sendaivirus-mediated reprogramming, we generated an induced pluripotent stem cell (iPSC) line from the peripheral blood mononuclear cells of a child with arrhythmia. The iPSCs exhibited stable amplification, expressed pluripotent markers, and differentiated spontaneously into three germ layers in vitro. Additionally, this iPSC line was found to maintain a normal karyotype and retain the pathogenic mutation in CTNNA3, facilitating a platform to study the disease mechanisms of arrhythmia and dysfunctions related to CTNNA3 mutations.

The Emerging Role of Fatty Acid Synthase in Hypoxia-Induced Pulmonary Hypertensive Mouse Energy Metabolism.

AIMS: This study is aimed at examining whether fatty acid synthase (FAS) can regulate mitochondrial function in hypoxia-induced pulmonary arterial hypertension (PAH) and its related mechanism. RESULTS: The expression of FAS significantly increased in the lung tissue of mice with hypoxia-induced PAH, and its pharmacological inhibition by C75 ameliorated right ventricle cardiac function as revealed by echocardiographic analysis. Based on transmission electron microscopy and Seahorse assays, the mitochondrial function of mice with hypoxia was abnormal but was partially reversed after C75 injection. In vitro studies also showed an increase in the expression of FAS in hypoxia-induced human pulmonary artery smooth muscle cells (HPASMCs), which could be attenuated by FAS shRNA as well as C75 treatment. Meanwhile, C75 treatment reversed hypoxia-induced oxidative stress and activated PI3K/AKT signaling. shRNA-mediated inhibition of FAS reduced its expression and oxidative stress levels and improved mitochondrial respiratory capacity and ATP levels of hypoxia-induced HPASMCs. CONCLUSIONS: Inhibition of FAS plays a crucial role in shielding mice from hypoxia-induced PAH, which was partially achieved through the activation of PI3K/AKT signaling, indicating that the inhibition of FAS may provide a potential future direction for reversing PAH in humans.

Identification and characterization of a novel ELN mutation in congenital heart disease with pulmonary artery stenosis.

Congenital heart defects, one of the most common birth defects, affect approximately 1% of live birth globally and remain the leading cause of infant mortality in developed countries. Utilizing the pathogenicity score and inheritance mode from whole exome sequencing results, a heterozygous mutation (NM_001278939.1: c.1939G>T, p.Gly647Ter) in elastin (ELN) was identified among 6,440 variants in a female proband born with an atrial septal defect accompanied by pulmonary artery stenosis. Results of RT-PCR showed that the mutation (NM_001278939.1: c.1939G>T, p.Gly647Ter) did not affect the expression levels of ELN mRNA but increased protein level. The content of ELN truncate (functional component) was significantly lower in both the intracellular and extracellular compartments after mutation. These results indicate that the ELN mutation (NM_001278939.1: c.1939G>T, p.Gly647Ter) affected the protein truncate, which may be a functional component of ELN and play crucial roles for this pedigree. Here we report of an ELN heterozygous variant associated with congenital heart disease accompanied with pulmonary artery stenosis, which is less common. Based on our results, we speculate that this may be the main molecular mechanism underlying the mutation-led functional changes, and propose that the decrease of ELN protein level may cause this pedigree vascular abnormality, especially pulmonary artery stenosis, and reinforce the view that ELN insufficiency is the primary cause of these vascular lesions. This may be the main molecular mechanism underlying the mutation-led functional changes. Thus, systematic analysis not only enables us to better understand the etiology of this disease but also contributes to clinical and prenatal diagnosis.

A novel endoglin mutation in a family with hereditary hemorrhagic telangiectasia: a case report.

Hereditary hemorrhagic telangiectasis (HHT) is an autosomal dominant vascular disease, and approximately 80% of all HHT cases are caused by gene mutation. In this report, we analyzed the case of an 11-year-old girl who had intracranial bleeding when she was 7 years old. Her brain computed tomography (CT) scans and craniocerebral angiography results revealed that she had multiple cerebral arteriovenous malformations (CAVMs). Cardiac computed tomography angiography (CTA) revealed a pulmonary arteriovenous malformation (PAVM) located in a segment of the left lung. This patient's primary diagnosis was of CAVMs and PAVMs. Both cerebral vascular embolization therapy and interventional treatment for PAVMs were performed to treat these respective conditions. The operations were successful and the patient's prognosis was good. To confirm the patient's diagnosis and the cause of her conditions, peripheral blood was collected from her and her family for whole-exome sequencing (WES). Sanger sequencing was used to verify these results and STRUM software was used to predict the presence of mutant proteins. We found a new mutation of the endoglin (ENG) gene present in this family; this mutation is known as c.1466del (p.Gln489Argfs*2). The patient's mother was a carrier of this heterozygous mutation. STRUM software confirmed that the configuration of the ENG protein p.Gln489Argfs2 site changed with this mutation. We believe this c.1466del (p.Gln489Argfs*2) mutation affects ENG protein function, and the resultant ENG protein dysfunction leads to HHT. When a child has multiple vascular malformation, HHT should be considered as a primary diagnosis.

Generation of an induced pluripotent stem cell line from a Chinese Han infant with floating-harbor syndrome accompanied with dilated cardiomyopathy.

Floating-harbor syndrome, are mainly caused by heterozygous truncating mutations in SRCAP. To our best knowledge, the mutation (c.452_453del) located in the fifth exon of SRCAP, has not been reported yet. Herein, an induced pluripotent stem cell (iPSC) line was generated from the peripheral blood mononuclear cells of an infant with floating-harbor syndrome accompanied with dilated cardiomyopathy through Sendaivirus-mediated reprogramming. These iPSCs have excellent cellular features, including stable amplification, pluripotent markers expression, and spontaneous differentiation into three germ layers, and a normal karyotype. These iPSCs provide a suitable cell model to study the mechanism of Floating-harbor syndrome.

Single-cell RNA sequencing of peripheral blood mononuclear cells from acute Kawasaki disease patients.

Kawasaki disease (KD) is the most common cause of acquired heart disease in children in developed countries. Although functional and phenotypic changes of immune cells have been reported, a global understanding of immune responses underlying acute KD is unclear. Here, using single-cell RNA sequencing, we profile peripheral blood mononuclear cells from seven patients with acute KD before and after intravenous immunoglobulin therapy and from three age-matched healthy controls. The most differentially expressed genes are identified in monocytes, with high expression of pro-inflammatory mediators, immunoglobulin receptors and low expression of MHC class II genes in acute KD. Single-cell RNA sequencing and flow cytometry analyses, of cells from an additional 16 KD patients, show that although the percentage of total B cells is substantially decreased after therapy, the percentage of plasma cells among the B cells is significantly increased. The percentage of CD8+ T cells is decreased in acute KD, notably effector memory CD8+ T cells compared with healthy controls. Oligoclonal expansions of both B cell receptors and T cell receptors are observed after therapy. We identify biological processes potentially underlying the changes of each cell type. The single-cell landscape of both innate and adaptive immune responses provides insights into pathogenesis and therapy of KD.