OBJECTIVE: To report on a child with B-cell-negative severe combined immunodeficiency (B-SCID) manifesting as fulminant myocarditis and carry out genetic testing for her. METHODS: A child with B-SCID who presented at Fujian Maternity and Child Health Care Hospital on January 31, 2021 was selected as the subject. Whole exome sequencing was carried out for her. Candidate variant was verified by Sanger sequencing. RESULTS: The female infant had developed recurrent skin and lung infections soon after birth, and was admitted due to fulminant myocarditis. Serological examination has disclosed a remarkable reduction in immunoglobulins. Flow cytometric analysis revealed that her peripheral blood T and B lymphocytes and NK cells were significantly reduced. Whole exome sequencing revealed that she has harbored a homozygous c.C3007T (p.Q1003X) nonsense variant of the RAG1 gene, for which both of her parents were heterozygous carriers. The variant has not been recorded in normal population databases. Based on the guidelines from the American College of Medical Genetics and Genomics, the variant was predicted to be pathogenic. CONCLUSION A case of RAG1 gene associated B-SCID has been diagnosed. Above finding has enriched the spectrum of RAG1 gene variants and enabled early diagnosis and intervention of the disease.
Female ; Humans ; Pregnancy ; Genetic Testing ; Homeodomain Proteins/genetics* ; Mutation ; Myocarditis/genetics* ; Phenotype ; Severe Combined Immunodeficiency/diagnosis* ; Infant

Objective To explore the expression profiles of circulating microRNA(miRNA)and potential markers for the diagnosis of adult fulminant myocarditis(FM). Methods The expression profiles of circulating miRNA were determined by microarray analysis and verified by real-time quantitative PCR.The key role of circulating miRNA in FM was determined via KEGG pathway enrichment.The correlations between miRNA and cardiac function parameters in patients with FM were analyzed.The receiver operating characteristic(ROC)curve was established to evaluate the sensitivity and specificity of circulating miRNA in the diagnosis of FM. Results Compared with healthy controls,the FM patients had up-regulated expression levels of miR-29b(t=18.925,P<0.001)and miR-125b(t=5.981,P=0.029)in the plasma.After treatment,the expression levels of miR-29b(t=12.943,P<0.001)and miR-125b(t=14.016,P<0.001)were significantly down-regulated.KEGG pathway enrichment showed that the targets of miR-29b were involved in inflammatory response and apoptosis pathways.The results of cell proliferation and apoptosis assay demonstrated the transfection of miR-29b mimic had a more significant inducing effect on cardiomyocyte apoptosis than that of miR-125b mimic(χ ²=6.168,P=0.047),whereas there was no significant difference in the inhibition of cell proliferation between the two groups(χ²=1.452,P=0.417).The expression levels of miR-29b and miR-125b were negatively correlated with left ventricular ejection fraction(r=-0.67,P=0.071;r=-0.49,P=0.003).They were positively correlated with cardiac troponin I level(r=0.61,P=0.019;r=0.52,P=0.016),interferon β level(r=0.42,P=0.014;r=0.36,P=0.021),and myocardial edema area(r=0.86,P=0.005;r=0.73,P=0.013).The ROC curve analysis demonstrated that miR-29b had higher sensitivity for the diagnosis of FM(93.6% vs.89.2%;t=0.896,P=0.795)and specificity(72.4% vs.59.6%;t=9.478,P=0.002)than miR-125b. Conclusion The circulating miR-29b may be a potential biomarker for the diagnosis of FM.
Adult ; Biomarkers/metabolism* ; Circulating MicroRNA/metabolism* ; Humans ; MicroRNAs/metabolism* ; Myocarditis/diagnosis* ; Stroke Volume ; Ventricular Function, Left

Diagnostic Errors ; Humans ; Male ; Multiple Endocrine Neoplasia Type 2a/diagnosis* ; Myocarditis/diagnosis*

Sarcoidosis is a multisystem disease characterized by noncaseating granulomas. Cardiac involvement is known to have poor prognosis because it can manifest as a serious condition such as the conduction abnormality, heart failure, ventricular arrhythmia, or sudden cardiac death. Although early diagnosis and early treatment is critical to improve patient prognosis, the diagnosis of CS is challenging in most cases. Diagnosis usually relies on endomyocardial biopsy (EMB), but its diagnostic yield is low due to the incidence of patchy myocardial involvement. Guidelines for the diagnosis of CS recommend a combination of clinical, electrocardiographic, and imaging findings from various modalities, if EMB cannot confirm the diagnosis. Especially, the role of advanced imaging such as cardiac magnetic resonance (CMR) imaging and positron emission tomography (PET), has shown to be important not only for the diagnosis, but also for monitoring treatment response and prognostication. CMR can evaluate cardiac function and fibrotic scar with good specificity. Late gadolinium enhancement (LGE) in CMR shows a distinctive enhancement pattern for each disease, which may be useful for differential diagnosis of CS from other similar diseases. Effectively, T1 or T2 mapping techniques can be also used for early recognition of CS. In the meantime, PET can detect and quantify metabolic activity and can be used to monitor treatment response. Recently, the use of a hybrid CMR-PET has introduced to allow identify patients with active CS with excellent co-localization and better diagnostic accuracy than CMR or PET alone. However, CS may show various findings with a wide spectrum, therefore, radiologists should consider the possible differential diagnosis of CS including myocarditis, dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy, amyloidosis, and arrhythmogenic right ventricular cardiomyopathy. Radiologists should recognize the differences in various diseases that show the characteristics of mimicking CS, and try to get an accurate diagnosis of CS.
Amyloidosis ; Arrhythmias, Cardiac ; Arrhythmogenic Right Ventricular Dysplasia ; Biopsy ; Cardiomyopathy, Dilated ; Cardiomyopathy, Hypertrophic ; Cicatrix ; Death, Sudden, Cardiac ; Diagnosis ; Diagnosis, Differential ; Early Diagnosis ; Electrocardiography ; Electrons ; Gadolinium ; Granuloma ; Heart Defects, Congenital ; Humans ; Incidence ; Magnetic Resonance Imaging ; Myocarditis ; Positron-Emission Tomography ; Prognosis ; Sarcoidosis ; Sensitivity and Specificity

Systemic lupus erythematosus (SLE) is a chronic autoimmune disorder of an unknown origin. The role of leptospirosis as a triggering factor for SLE is unknown. This paper reports an uncommon case of SLE following a leptospira infection. A 29-year-old female was referred due to fevers, myalgia, and facial edema with rash. Laboratory investigations revealed a hepatic dysfunction, significantly raised lactate dehydrogenase with marked leukopenia and thrombocytopenia. A diagnosis of leptospirosis was confirmed. The patient was treated with antibiotic therapy for leptospirosis. She developed dyspnea after one week. The echocardiogram revealed global hypokinesia with a decreased ejection fraction. A positivity of antinuclear, anti-DNA, and anti-Smith antibodies, together with clinical and laboratory improvement by steroid therapy, led to the diagnosis of SLE. This case highlights the presence of concurrent SLE and leptospirosis. As the symptoms of SLE are similar to leptospirosis, accurate diagnosis through high suspicion is essential for appropriate treatment.
Adult ; Antibodies ; Diagnosis ; Dyspnea ; Edema ; Exanthema ; Female ; Fever ; Humans ; Hypokinesia ; L-Lactate Dehydrogenase ; Leptospira ; Leptospirosis* ; Leukopenia ; Lupus Erythematosus, Systemic* ; Myalgia ; Myocarditis ; Thrombocytopenia

No abstract available.
Diagnosis* ; Myocarditis*

Clozapine may be associated with cardiovascular adverse effects including QTc prolongation and, more rarely, with myocarditis and pericarditis. Although rare, these latter cardiovascular adverse effects may be life-threatening and must be immediately recognized and treated. Several cases of clozapine related-pericarditis have been described and often it has a subtle and insidious onset with symptoms that may be often misdiagnosed with psychiatric manifestations (e.g. anxiety, panic or somatization) leading to a delayed correct diagnosis with potential fatal consequences. In the present report we describe the case of a 27-year-old girl with schizoaffective disorder taking long acting aripiprazole and valproate who developed a sudden onset clozapine-related pericarditis during titration phase that resolved with immediate clozapine discontinuation and indomethacin administration. We underline the importance of an early diagnosis of clozapine-related pericarditis and the need to have monitoring protocols to prevent this potentially fatal adverse effect especially when polypharmacy is administered to patients taking clozapine.
Adult ; Anxiety ; Aripiprazole* ; Clozapine ; Diagnosis ; Drug Monitoring ; Early Diagnosis ; Female ; Humans ; Indomethacin ; Myocarditis ; Panic ; Pericarditis* ; Polypharmacy ; Psychotic Disorders ; Valproic Acid*

Coxsackievirus A16 (CA16), which primarily causes hand, foot, and mouth disease (HFMD), is associated with complications, such as encephalitis, acute flaccid paralysis, myocarditis, pericarditis, and shock. However, no case of pancreatitis associated with CA16 has been reported in children. We report a case of CA16-associated acute pancreatitis in a 3-year-old girl with HFMD. She was admitted because of poor oral intake and high fever for 1 day. Maculopapular rashes on both hands and feet and multiple vesicles on the soft palate were observed on physical examination. She was treated conservatively with intravenous fluids. On the fourth hospital day, she had severe abdominal pain and vomiting. The serum levels of amylase and lipase were remarkably elevated (amylase, 1,902 IU/L; reference range, 28–100 IU/L; lipase, >1,500 IU/L; reference range, 13–60 IU/L), and ultrasonography showed diffuse swelling of the pancreas with a small amount of ascites. The real-time reverse transcription polymerase chain reaction result from a stool sample was positive for CA16. CA16 can cause acute pancreatitis, and should be considered in the differential diagnosis of abdominal pain in children with HFMD.
Abdominal Pain ; Amylases ; Animals ; Ascites ; Child ; Child, Preschool ; Diagnosis, Differential ; Encephalitis ; Exanthema ; Female ; Fever ; Foot ; Foot-and-Mouth Disease ; Hand* ; Hand, Foot and Mouth Disease* ; Humans ; Lipase ; Mouth Diseases ; Myocarditis ; Palate, Soft ; Pancreas ; Pancreatitis* ; Paralysis ; Pericarditis ; Physical Examination ; Polymerase Chain Reaction ; Reference Values ; Reverse Transcription ; Shock ; Ultrasonography ; Vomiting

BACKGROUNDMyocarditis is an uncommon but serious manifestation of systemic lupus erythematosus (SLE). This study aimed to investigate clinical characteristics and outcomes of lupus myocarditis (LM) and to determine risk factors of LM in hospitalized Chinese patients with SLE.

METHODSWe conducted a retrospective case-control study. A total of 25 patients with LM from 2001 to 2012 were enrolled as the study group, and 100 patients with SLE but without LM were randomly pooled as the control group. Univariable analysis was performed using Chi-square tests for categorical variables, and the Student's t-test or Mann-Whitney U-test was performed for continuous variables according to the normality.

RESULTSLM presented as the initial manifestation of SLE in 7 patients (28%) and occurred mostly at earlier stages compared to the controls (20.88 ± 35.73 vs. 44.08 ± 61.56 months, P = 0.008). Twenty-one patients (84%) experienced episodes of symptomatic heart failure. Echocardiography showed that 23 patients (92%) had decreased left ventricular ejection fraction (<50%) and all patients had wall motion abnormalities. A high SLE Disease Activity Index was the independent risk factor in the development of LM (odds ratio = 1.322, P < 0.001). With aggressive immunosuppressive therapies, most patients achieved satisfactory outcome. The in-hospital mortality was not significantly higher in the LM group than in the controls (4% vs. 2%,P = 0.491).

CONCLUSIONSLM could result in cardiac dysfunction and even sudden death. High SLE disease activity might potentially predict the occurrence of LM at the early stage of SLE. Characteristic echocardiographic findings could confirm the diagnosis of LM. Early aggressive immunosuppressive therapy could improve the cardiac outcome of LM.

Adult ; Case-Control Studies ; China ; Echocardiography ; Female ; Humans ; Lupus Erythematosus, Systemic ; complications ; Male ; Multivariate Analysis ; Myocarditis ; diagnosis ; etiology ; Retrospective Studies ; Risk Factors

Fulminant myocarditis has been defined as the clinical manifestation of cardiac inflammation with rapid-onset heart failure and cardiogenic shock. We report on the case of a 23-yr-old woman with pathology-proven fulminant lymphocytic myocarditis presenting shock with elevated cardiac troponin I and ST segments in V1-2, following sustained ventricular tachycardia and a complete atrioventricular block. About 55 min of intensive cardio-pulmonary resuscitation, with extracorporeal membrane oxygenation support, bridged the patient to orthotopic heart transplantation. The explanted heart revealed diffuse lymphocytic infiltration and myocyte necrosis in all four cardiac chamber walls. Aggressive mechanical circulatory support may be an essential bridge for recovery or even transplantation in patients with fulminant myocarditis with shock.
Combined Modality Therapy/methods ; Extracorporeal Membrane Oxygenation/*methods ; Female ; *Heart Transplantation ; Humans ; Myocarditis/complications/*diagnosis/*therapy ; Shock/*diagnosis/etiology/*prevention & control ; Treatment Outcome ; Young Adult