In order to evaluate the contribution of FBN1, FBN2, TGFBR1, and TGFBR2 mutations to the Marfan syndrome (MFS) phenotype, the four genes were analyzed by direct sequencing in 49 patients with MFS or suspected MFS as a cohort study. A total of 27 FBN1 mutations (22 novel) in 27 patients (55%, 27/49), 1 novel TGFBR1 mutation in 1 (2%, 1/49), and 2 recurrent TGFBR2 mutations in 2 (4%, 2/49) were identified. No FBN2 mutation was found. Three patients with either TGFBR1 or TGFBR2 abnormality did not fulfill the Ghent criteria, but expressed some overlapping features of MFS and Loeys-Dietz syndrome (LDS). In the remaining 19 patients, either of the genes did not show any abnormalities. This study indicated that FBN1 mutations were predominant in MFS but TGFBRs defects may account for approximately 5-10% of patients with the syndrome.
In 2009, the "Guidelines for diagnosis and treatment of myocarditis (JCS 2009)" were issued by the Japanese Circulation Society (JCS). 1 Although this guideline has been widely used in clinical practice for more than a decade, it is certain that they now require adjustment in line with recent trends.Recent Position Statements and Expert Consensuses published in Europe 3 and the USA 2 have shown a shift to general classification of myocarditis into acute myocarditis and chronic inflammatory cardiomyopathy, resulting in a decrease in the use of the term "chronic myocarditis" worldwide. This is attributable to the fact that the understanding of the etiology, pathological condition, and clinical course of myocarditis has gradually deepened through AKIN Acute Kidney Injury Network APACHE Acute Physiology and Chronic Health Evaluation AST aspartate aminotransferase BNP B-type natriuretic peptide BTT bridge to transplantation BiVAD biventricular assist device CK creatine kinase CK-MB creatine kinase myocardial bound COVID-19 COronaVirus Infectious Disease, emerged in 2019 CRP C-reactive protein CRT-D cardiac resynchronization therapy defibrillator CTLA-4 cytotoxic T lymphocyte-associated protein 4 CQs Clinical Questions DI disagreement index DIC disseminated intravascular coagulation DLST drug-induced lymphocyte stimulation test 1. Process of Preparation ▋ 1.1 Purpose, Users, and Targeted Patients of the Guidelines ▋ 1.1.1 Purpose To provide practice guidelines for appropriate diagnosis and treatment management to physicians engaged in clinical care of patients with myocarditis. ▋ 1.1.2 Expected Users The present Guidelines were prepared in the expectation that cardiologists, cardiovascular surgeons, pediatricians, intensive care physicians, general internists, general practitioners, nurses, and other medical personnel who are engaged in the clinical care of myocarditis patients would use them when devising treatment strategies. It is alsoStep 4: Evaluation and Finalization of the Clinical Practice Guidelines The content of the Guidelines was reviewed by external reviewers and based their reports, modifications were made as necessary.
▋ 1.5 PublicationThe final draft was published after approval of the JCS Clinical Practice Guidelines Committee.
▋ 1.6 Conflict of Interest (COI)Conflict of interest, if any, was declared according to the rules prescribed by the JCS. The declaration covered 3 years from 2020 to 2022.
Myocarditis is an inflammatory disease of the myocardium and leads to cardiac dysfunction and heart failure. Although viral infections are considered to be the most common etiology of myocarditis, the identification of the causative virus is still challenging. Recently, next-generation sequencing (NGS) has been applied in the diagnosis of infectious diseases. The aim of the current study was to comprehensively analyze potential pathogenic microorganisms using NGS in the sera of patients with myocarditis. Twelve pediatric and five adult patients hospitalized for acute myocarditis were included. Serum samples in the acute phase were obtained and analyzed using NGS to detect pathogen-derived DNA and RNA. Viral sequence reads were detected in 7 (41%) of the 17 myocarditis patients by NGS. Among these patients, detection of Epstein-Barr virus, human parvovirus B19, torque teno virus, and respiratory syncytial virus reads by NGS was consistent with polymerase chain reaction or antigen test results in one patient each. A large number of human pegivirus reads were detected from one patient by RNA sequencing; however, its pathogenicity to human is unknown. Conversely, the number of detected virus-derived reads was small in most cases, and the pathophysiological role of these viruses remains to be clarified. No significant bacterial or fungal reads other than normal bacterial flora was detected. These data indicate that comprehensive detection of virus-derived DNA and RNA using NGS can be useful for the identification of potential pathogenic viruses in myocarditis.
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