ABSTRACT
OBJECTIVE: Mitral valve replacement (MVR) in the setting of severe mitral annular calcification is a technically challenging operation with increased morbidity and mortality. Transseptal/apical transcatheter MVR (TMVR) in mitral annular calcification has emerged as an option for these cases, although may not be feasible due to anatomical reasons. Transatrial TMVR is a potential treatment option for this subgroup of patients. METHODS: Patients who underwent transatrial TMVR between June 2018 and November 2020 at a single institution were included. Patients were selected by a structural heart team based on their surgical risk, pattern of mitral annular calcification, risk of valve migration, left ventricular outflow obstruction, and paravalvular leak. RESULTS: A total of 11 patients underwent transatrial TMVR. Mean patient age was 74.2 years and mean Society of Thoracic Surgeons predicted risk of mortality score was 9.1%. All patients had the presence of both mitral stenosis and regurgitation-dominant etiology-was mitral stenosis in 81.2%, and mitral regurgitation in 18.8%. Among patients, 54.5% had a concomitant cardiac procedure. There was no in-hospital or 30-day mortality. Technical success defined by the Mitral Valve Academic Research Consortium was achieved in 90.9% of patients. Postoperative paravalvular leak was mild or less in all patients. CONCLUSIONS: In this series, transatrial TMVR was shown to be a safe and effective treatment option for patients who are high risk for surgical MVR and should be in surgeons' armamentarium in the treatment of this high-risk patient population. Dissemination of safe technique will be critical in the successful conduct of this surgery.
ABSTRACT
HLA genotype-clinical phenotype correlations are not established for multiple sclerosis (MS) and neuromyelitis optica spectrum disorders (NMOSD). We studied HLA-DRB1/DPB1 genotype-phenotype correlations in 528 MS and 165 NMOSD cases using Japan MS/NMOSD Biobank materials. HLA-DRB1*04:05, DRB1*15:01 and DPB1*03:01 correlated with MS susceptibility and DRB1*01:01, DRB1*09:01, DRB1*13:02 and DPB1*04:01 were protective against MS. HLA-DRB1*15:01 was associated with increased optic neuritis and cerebellar involvement and worsened visual and pyramidal functional scale (FS) scores, resulting in higher progression index values. HLA-DRB1*04:05 was associated with younger onset age, high visual FS scores, and a high tendency to develop optic neuritis. HLA-DPB1*03:01 increased brainstem and cerebellar FS scores. By contrast, HLA-DRB1*01:01 decreased spinal cord involvement and sensory FS scores, HLA-DRB1*09:01 decreased annualized relapse rate, brainstem involvement and bowel and bladder FS scores, and HLA-DRB1*13:02 decreased spinal cord and brainstem involvement. In NMOSD, HLA-DRB1*08:02 and DPB1*05:01 were associated with susceptibility and DRB1*09:01 was protective. Multivariable analysis revealed old onset age, long disease duration, and many relapses as independent disability risks in both MS and NMOSD, and HLA-DRB1*15:01 as an independent risk only in MS. Therefore, both susceptibility and protective alleles can influence the clinical manifestations in MS, while such genotype-phenotype correlations are unclear in NMOSD.
Subject(s)
Biological Specimen Banks , Genetic Association Studies , HLA-DP beta-Chains/genetics , HLA-DRB1 Chains/genetics , Multiple Sclerosis/pathology , Neuromyelitis Optica/pathology , Adult , Case-Control Studies , Female , Genotype , Humans , Japan/epidemiology , Male , Middle Aged , Multiple Sclerosis/epidemiology , Multiple Sclerosis/genetics , Multiple Sclerosis/immunology , Neuromyelitis Optica/epidemiology , Neuromyelitis Optica/genetics , Neuromyelitis Optica/immunology , PhenotypeABSTRACT
BACKGROUND: Progressive multifocal leukoencephalopathy (PML) caused by JC virus (JCV) is a rare but serious complication of some disease-modifying drugs used to treat multiple sclerosis (MS). Japanese MS patients treated with fingolimod were reported to be 10 times more likely to develop PML than equivalent patients in other countries. The strongest susceptibility human leukocyte antigen (HLA) class II alleles for MS are distinct between races (DRB1*15:01 for Caucasians and DRB1*04:05 and DRB1*15:01 for Japanese); therefore, we investigated whether HLA class II alleles modulate anti-JCV antibody serostatus in Japanese MS patients with and without fingolimod. METHODS: We enrolled 128 Japanese patients with MS, in whom 64 (50%) were under fingolimod treatment at sampling, and examined the relationship between HLA class II alleles and anti-JCV antibody serostatus. Serum anti-JCV antibody positivity and index were measured using a second-generation two-step assay and HLA-DRB1 and -DPB1 alleles were genotyped. RESULTS: HLA-DRB1*15 carriers had a lower frequency of anti-JCV antibody positivity (57% vs 78%, p = 0.015), and lower antibody index (median 0.42 vs 1.97, p = 0.037) than non-carriers. Among patients without HLA-DRB1*15, DRB1*04 carriers had a higher seropositivity rate than non-carriers (84% vs 54%, p = 0.030), and DPB1*04:02 carriers had a higher anti-JCV antibody index than non-carriers (3.20 vs 1.34, p = 0.008) although anti-JCV antibody-positivity rates did not differ. Patients treated with fingolimod had a higher antibody index than other patients (1.46 vs 0.64, p = 0.039) and treatment period had a positive correlation with antibody index (p = 0.018). Multivariate logistic regression analysis revealed that age was positively associated, and HLA-DRB1*15 was negatively associated with anti-JCV antibody positivity (odds ratio [OR] = 1.06, p = 0.006, and OR = 0.37, p = 0.028, respectively). Excluding HLA-DRB1*15-carriers, DRB1*04 was an independent risk factor for the presence of anti-JCV antibody (OR = 5.50, p = 0.023). CONCLUSIONS: HLA-DRB1*15 is associated with low anti-JCV antibody positive rate and low JCV antibody index, and in the absence of DRB1*15, DRB1*04 carriers are associated with a high antibody positive rate in Japanese, suggesting the effects of two susceptible HLA-DRB1 alleles on anti-JCV antibody serostatus differ.
Subject(s)
Alleles , Fingolimod Hydrochloride/therapeutic use , HLA-DRB1 Chains/blood , Immunosuppressive Agents/therapeutic use , JC Virus/metabolism , Multiple Sclerosis/blood , Adult , Aged , Biomarkers/blood , Female , Fingolimod Hydrochloride/pharmacology , Genetic Predisposition to Disease/genetics , HLA-DRB1 Chains/genetics , Humans , Immunosuppressive Agents/pharmacology , Male , Middle Aged , Multiple Sclerosis/drug therapy , Multiple Sclerosis/geneticsABSTRACT
Minimally invasive cardiac surgery(MICS)rapidly has become popular in recent years. To perform meticulous surgical procedures in the limited space, specially designed surgical instruments are very useful. For excellent exposure of the surgical target, thoracoscopic system with high imaging quality such as 4K or 3D HD endoscopy is often used. An articulated rib spreader and/or soft tissue retractor is also useful since those instruments do not interfere with other surgical instruments. A suture catcher is used to pull traction sutures through the chest wall. There are various types of atrial retractor designed for MICS. For fine manipulation in the limited space, long-shafted forceps, needle holders, and scissors are necessary. Those instruments reach deeply located targets and do not interfere surgeon's and endoscopic view or other instruments. A knot pusher is another essential device to tie knots through a small incision. The automatic tying device is available outside the country. For cardiopulmonary bypass, cannulas designed for peripheral access are used. Most of those cannulas have multiple side holes that work well for excellent perfusion and drainage. There are also specially designed aortic cross-clamps. To make surgeons more comfortable and improve quality of MICS, surgical devices for MICS need to be further innovated.
Subject(s)
Cardiac Surgical Procedures/instrumentation , Cardiopulmonary Bypass/instrumentation , Humans , Minimally Invasive Surgical Procedures/instrumentation , Suture Techniques , Sutures , ThoracoscopyABSTRACT
A 48-year-old male developed a recurrent aortic-root pseudoaneurysm after surgical repair for acute dissection. Although the initial closure of the pseudoaneurysm was successfully managed by transcatheter endovascular occlusion and coiling utilizing a hybrid transapical and transfemoral approach, the pseudoaneurysm was recanalized after 3 months and a third-time surgical repair was required. The potential risk for recurrence of pseudoaneurysms should be considered when applying endovascular occlusion devices to treat aortic root anatomy.
Subject(s)
Aneurysm, False/surgery , Aorta/surgery , Aortic Aneurysm/surgery , Aortic Diseases/surgery , Aortic Dissection/surgery , Catheterization, Peripheral/methods , Embolization, Therapeutic/methods , Endovascular Procedures/methods , Acute Disease , Aorta/anatomy & histology , Humans , Male , Middle Aged , Recurrence , Reoperation , RiskABSTRACT
BACKGROUND: There is a paucity of data that demonstrates a clinical impact of anatomical measurements of the aortic annulus by three-dimensional (3D) transesophageal echocardiography (TEE) on surgical aortic valve replacement (AVR). The aim of this study is to validate the accuracy of 3D TEE measurements compared with the direct intraoperative annular diameter and to investigate an impact of 3D TEE on a prediction of AVR with aortic annular enlargement (AAE). METHODS AND RESULTS: We retrospectively enrolled 61 patients who underwent both two-dimension (2D) and 3D TEE and transthoracic echocardiography (TTE) before AVR. The annular diameters were measured noninvasively with 2D TEE (D2D) and TTE (DTTE) in a classical manner and the area- and perimeter-derived annular diameters (Darea, Dperim) were measured from using 3D TEE analysis. Intraoperative annular diameter was measured with the manufacture's sizer (Dintraope). Darea showed the best agreement with Dintraope in the Bland-Altman analysis. Darea, Dperim, D2D, and DTTE correlated well with Dintraope (r=0.821, 0.820, 0.532, and 0.610, respectively; all p<0.001). Three patients underwent AVR with AAE and the specificity of Dperim for prediction of AAE was significantly higher than D2D (p=0.008). CONCLUSIONS: 3D TEE measurement of aortic annular diameter showed better agreement with the direct intraoperative measurement than 2D TEE and TTE measurements. 3D TEE measurement could predict AVR with AAE more accurately than 2D TEE and TTE measurements.
Subject(s)
Aortic Valve Stenosis/diagnostic imaging , Aortic Valve/diagnostic imaging , Aortic Valve/pathology , Echocardiography, Three-Dimensional/statistics & numerical data , Echocardiography, Transesophageal/statistics & numerical data , Aged , Aortic Valve/surgery , Aortic Valve Stenosis/pathology , Aortic Valve Stenosis/surgery , Echocardiography, Three-Dimensional/methods , Echocardiography, Transesophageal/methods , Female , Heart Valve Prosthesis Implantation/methods , Humans , Male , Middle Aged , Organ Size , Reproducibility of Results , Retrospective StudiesABSTRACT
Right ventricular perforation leading to cardiac tamponade can occur during the chronic phase after cardiac device implantation. Physicians who manage the pacemaker clinic must be alert to the wide range of symptoms and signs that can accompany delayed right ventricular perforation. Surgical rather than percutaneous lead extraction may be prudent.
ABSTRACT
BACKGROUND: We evaluated the outcomes of totally endoscopic minimally invasive surgery for atrial septal defect (ASD) using a glutaraldehyde-treated autologous pericardial patch in the transcatheter interventional era.MethodsâandâResults:We retrospectively reviewed 37 consecutive patients who underwent totally endoscopic ASD closure with a glutaraldehyde-treated autologous pericardial patch between June 2011 and April 2015. All patients had been deferred from catheter-based intervention for clinical or anatomical reasons. We analyzed operative outcomes and postoperative echocardiographic data. The mean age was 45.7±16.5 years, and 25 patients (67.6%) were women. The mean ratio of pulmonary to systemic flow was 2.4±0.7. Six patients (16.2%) underwent concomitant tricuspid valve repair, and 3 patients (8.1%) underwent concomitant atrial fibrillation surgery. There were no operative deaths, and the median length of hospital stay was 5 days. Postoperative echocardiography revealed trivial residual shunt in 1 patient. During the follow-up period, there were no re-interventions for ASD or readmission for heart failure. Follow-up echocardiography revealed no recurrent shunt or calcification of the autologous pericardial patch. CONCLUSIONS: Totally endoscopic ASD closure with a glutaraldehyde-treated autologous pericardial patch demonstrated excellent outcomes. It is a useful option for patients with unfavorable anatomy or other reasons excluding transcatheter intervention.
Subject(s)
Endoscopy/methods , Glutaral/therapeutic use , Heart Septal Defects, Atrial/surgery , Pericardium/transplantation , Adult , Autografts , Cardiac Surgical Procedures/methods , Female , Humans , Male , Middle Aged , Minimally Invasive Surgical Procedures/methods , Retrospective Studies , Tissue Transplantation/methods , Treatment OutcomeABSTRACT
An 80-year-old man with symptomatic severe aortic stenosis underwent transcatheter aortic valve replacement. Postoperatively, the patient was hemodynamically stable without inotropic or mechanical support. Approximately 30 hours after the procedure, he developed severe abdominal pain, and a blood test result showed elevated serum lactate level. We suspected nonocclusive mesenteric ischemia and performed emergency selective angiography of the superior mesenteric artery, which showed vasospasm. We confirmed the diagnosis of nonocclusive mesenteric ischemia, and it was treated successfully with intraarterial infusion of vasodilators into the superior mesenteric artery.
Subject(s)
Computed Tomography Angiography/methods , Mesenteric Artery, Superior/drug effects , Mesenteric Ischemia/diagnostic imaging , Transcatheter Aortic Valve Replacement/adverse effects , Vasodilator Agents/therapeutic use , Aged, 80 and over , Aortic Valve Stenosis/diagnostic imaging , Aortic Valve Stenosis/surgery , Follow-Up Studies , Humans , Infusions, Intra-Arterial , Male , Mesenteric Artery, Superior/diagnostic imaging , Mesenteric Ischemia/drug therapy , Mesenteric Ischemia/etiology , Postoperative Complications/diagnostic imaging , Postoperative Complications/drug therapy , Postoperative Complications/physiopathology , Risk Assessment , Severity of Illness Index , Transcatheter Aortic Valve Replacement/methods , Treatment OutcomeABSTRACT
Celiac artery (CA) coverage during thoracic endovascular aortic repair has been demonstrated to be a feasible and effective strategy for selected cases. However, there is a potential risk of ischemic complications due to CA coverage in patients with certain types of hereditary hemorrhagic telangiectasia (HHT). Herein, we report a case of thoracoabdominal aortic rupture in a patient with HHT that was successfully treated with emergency thoracic endovascular aortic repair covering the CA preceded by hepatic artery bypass. We also review the hepatic circulatory derangements and unique considerations in the surgical management of HHT.
ABSTRACT
We observed a case of intraoperative type A dissection during open descending and thoracoabdominal aortic replacement. It is difficult to obtain optimal access to the ascending aorta and aortic root through a left thoracotomy. Transection of the pulmonary trunk provided excellent exposure of the ascending aorta and aortic root, and we successfully managed this devastating adverse event.
Subject(s)
Aortic Aneurysm, Thoracic/diagnostic imaging , Aortic Aneurysm, Thoracic/surgery , Aortic Dissection/surgery , Intraoperative Complications/surgery , Thoracotomy/methods , Adult , Anastomosis, Surgical/methods , Aortic Dissection/diagnostic imaging , Blood Vessel Prosthesis Implantation/methods , Cardiopulmonary Bypass/methods , Emergency Treatment , Female , Follow-Up Studies , Humans , Intraoperative Complications/diagnostic imaging , Risk Assessment , Tomography, X-Ray Computed/methods , Treatment Outcome , Vascular Surgical Procedures/methodsABSTRACT
Leaflet resection with sliding valvuloplasty or additional chordal replacement is a standard technique for very large posterior leaflet prolapse. Regular chordal replacement without resection is simpler than those techniques. However, it may not reduce the leaflet height enough to avoid systolic anterior motion. In our technique, two pairs of neochordae are placed on the middle portion of the prolapsing scallop, which fixes the prolapse, reduces the functional height of the posterior leaflet, and blocks the leaflet tip from moving forward. This simple nonresectional technique can be easily performed with minimally invasive approaches. Postoperative echocardiography shows excellent leaflet motion and deep coaptation.
Subject(s)
Chordae Tendineae/surgery , Minimally Invasive Surgical Procedures/methods , Mitral Valve Insufficiency/surgery , Mitral Valve Prolapse/surgery , Aged , Echocardiography , Humans , Middle AgedABSTRACT
OBJECTIVE: In Duchenne muscular dystrophy (DMD) patients cardiac abnormalities are often detected. In adult DMD patients cardiac disease (CD) is a cause of death which increases by age and is related to respiratory dysfunction. Studies have demonstrated that CD in early DMD can be detected by echocardiography (EC) or semi-quantitative gated single photon emission tomography ((201)Tl SQGS), and the accuracy of these two tests is similar. As the disease advances, evaluation of CD by EC becomes difficult due to thoracic deformity and scoliosis. We compared (201)Tl SQGS and EC in the evaluation of cardiac function in late stage DMD, based on the ejection fraction (EF) value calculated by both tests. Twenty-three males with late stage DMD, 12 to 35 years of age (22.2±7.5), were studied by (201)Tl SQGS and EC. The mean EF value by (201)Tl SQGS was 60.8%±14.1%, which differed from that obtained by EC (52.7%±9.8%, P=0.003). Eleven patients less than 20 years old did not demonstrate a significant difference between the two tests (P=0.06), however, 12 patients over 20 years of age had significantly different results between tests (P=0.002). CONCLUSION: Although our patients were few we indicated that in DMD patients, aged older than 20 years, at an advanced stage of the disease, the EF values calculated by EC were lower than those by (201)Tl SQGS possibly due to thoracic deformity.
Subject(s)
Cardiomyopathy, Dilated/diagnosis , Cardiomyopathy, Dilated/etiology , Echocardiography/methods , Image Enhancement/methods , Muscular Dystrophy, Duchenne/complications , Muscular Dystrophy, Duchenne/diagnosis , Thallium Radioisotopes , Tomography, Emission-Computed, Single-Photon/methods , Adolescent , Adult , Child , Humans , Male , Radiopharmaceuticals , Reproducibility of Results , Sensitivity and Specificity , Young AdultABSTRACT
Obtaining excellent exposure of the papillary muscles is challenging in minimally invasive mitral valve repair. We have developed a simple and effective technique using a sterile paper ruler. The ruler is cut to the proper length (8 to 12 cm) depending on the valve size, then rolled and sutured. The rolled ruler, 7 to 11 cm in circumference, is placed inside the mitral leaflets. This technique provides excellent exposure of the papillary muscles without damaging the leaflets and prevents chordal injury during artificial chordal implantation.
Subject(s)
Endoscopy/economics , Endoscopy/methods , Heart Valve Diseases/surgery , Mitral Valve/surgery , Papillary Muscles , Cardiac Surgical Procedures/economics , Cardiac Surgical Procedures/methods , HumansABSTRACT
OBJECTIVE: To clarify the potential association of copy number variations (CNVs) with multiple sclerosis (MS) and neuromyelitis optica (NMO) in Japanese cases. METHODS: Genome-wide association analyses of CNVs among 277 MS patients, 135 NMO/NMO spectrum disorder (NMOSD) patients, and 288 healthy individuals as a discovery cohort, and among 296 MS patients, 76 NMO/NMOSD patients, and 790 healthy individuals as a replication cohort were performed using high-density single nucleotide polymorphism microarrays. RESULTS: A series of discovery and replication studies revealed that most identified CNVs were 5 to 50kb deletions at particular T cell receptor (TCR) gamma and alpha loci regions. Among these CNVs, a TCR gamma locus deletion was found in 16.40% of MS patients (p = 2.44E-40, odds ratio [OR] = 52.6), and deletion at the TCR alpha locus was found in 17.28% of MS patients (p = 1.70E-31, OR = 13.0) and 13.27% of NMO/NMOSD patients (p = 5.79E-20, OR = 54.6). These CNVs were observed in peripheral blood T-cell subsets only, suggesting the CNVs were somatically acquired. NMO/NMOSD patients carrying the CNV tended to be seronegative for anti-aquaporin-4 antibody or had significantly lower titers than those without CNV. INTERPRETATION: Deletion-type CNVs at specific TCR loci regions contribute to MS and NMO susceptibility.
Subject(s)
DNA Copy Number Variations/genetics , Multiple Sclerosis/genetics , Neuromyelitis Optica/genetics , Adolescent , Adult , Aquaporin 4/immunology , Asian People , Chromosomes/genetics , Cohort Studies , Female , Gene Deletion , Genetic Loci , Genome-Wide Association Study , Humans , Male , Polymerase Chain Reaction , Polymorphism, Single Nucleotide/genetics , Receptors, Antigen, T-Cell, alpha-beta/genetics , Receptors, Antigen, T-Cell, gamma-delta/genetics , Reproducibility of Results , Risk Factors , T-Lymphocyte SubsetsABSTRACT
We report a case of right ventricular (RV) diastolic dysfunction due to a large hematoma posterior to the left ventricle (LV) after cardiac surgery. An 80-year-old woman underwent cardiac surgery. After surgery, her physical findings revealed right heart failure. Localized hematoma posterior to the pericardial space and the RV compression to the sternum were shown by computed tomography. Transthoracic Doppler echocardiography demonstrated restrictive physiology of the RV although there was no evidence of constrictive pericarditis. These findings suggest that RV diastolic dysfunction could have occurred due to the hematoma posterior to the LV. Since pleural effusion had persisted despite medical therapy, the hematoma was removed surgically. Soon after surgery, dyspnea and pretibial edema were diminished; bilateral pleural effusion dramatically disappeared. RV diastolic dysfunction estimated by echocardiography was improved and RV compression disappeared. We speculate that there are two physiological mechanisms for the RV compression: (1) the localized hematoma elevated the intrapericardial pressure and (2) the hematoma shifted the entire heart to the sternum. In conclusion, this is the first case report of RV diastolic dysfunction due to large hematoma posterior to the LV.
ABSTRACT
BACKGROUND: Abnormal intrathecal synthesis of IgG, reflected by cerebrospinal fluid (CSF) oligoclonal IgG bands (OBs) and increased IgG index, is much less frequently observed in Japanese multiple sclerosis (MS) cohorts compared with Western cohorts. We aimed to clarify whether genetic and common infectious backgrounds influence CSF IgG abnormality in Japanese MS patients. METHODOLOGY: We analyzed HLA-DRB1 alleles, and IgG antibodies against Chlamydia pneumoniae, Helicobacter pylori, Epstein-Barr virus nuclear antigen (EBNA), and varicella zoster virus (VZV) in 94 patients with MS and 367 unrelated healthy controls (HCs). We defined CSF IgG abnormality as the presence of CSF OBs and/or increased IgG index (>0.658). PRINCIPAL FINDINGS: CSF IgG abnormality was found in 59 of 94 (62.8%) MS patients. CSF IgG abnormality-positive patients had a significantly higher frequency of brain MRI lesions meeting the Barkhof criteria compared with abnormality-negative patients. Compared with HCs, CSF IgG abnormality-positive MS patients showed a significantly higher frequency of DRB1 1501, whereas CSF IgG abnormality-negative patients had a significantly higher frequency of DRB1 0405. CSF IgG abnormality-positive MS patients had a significantly higher frequency of anti-C. pneumoniae IgG antibodies compared with CSF IgG abnormality-negative MS patients, although there was no difference in the frequency of anti-C. pneumoniae IgG antibodies between HCs and total MS patients. Compared with HCs, anti-H. pylori IgG antibodies were detected significantly less frequently in the total MS patients, especially in CSF IgG abnormality-negative MS patients. The frequencies of antibodies against EBNA and VZV did not differ significantly among the groups. CONCLUSIONS: CSF IgG abnormality is associated with Western MS-like brain MRI features. DRB1 1501 and C. pneumoniae infection confer CSF IgG abnormality, while DRB1 0405 and H. pylori infection are positively and negatively associated with CSF IgG abnormality-negative MS, respectively, suggesting that genetic and environmental factors differentially contribute to MS susceptibility according to the CSF IgG abnormality status.
Subject(s)
Asian People/genetics , Immunoglobulin G/cerebrospinal fluid , Multiple Sclerosis/cerebrospinal fluid , Multiple Sclerosis/genetics , Adult , Alleles , Chlamydophila pneumoniae/physiology , Environment , Female , Genetic Loci/genetics , HLA-DRB1 Chains/genetics , Helicobacter pylori/physiology , Herpesvirus 3, Human/physiology , Herpesvirus 4, Human/physiology , Humans , Immunoglobulin G/biosynthesis , Male , Multiple Sclerosis/microbiology , Multiple Sclerosis/virologyABSTRACT
BACKGROUND: Interleukin 2 receptor α subunit (IL2RA) is a genetic risk for multiple sclerosis (MS) in Caucasians. However, the association between MS and IL2RA in Japanese idiopathic demyelinating diseases of the central nervous system has not been examined. OBJECTIVE: To determine whether IL2RA gene polymorphisms confer risks of developing MS or neuromyelitis optica (NMO) in a Japanese population. METHODS: DNA samples were obtained from 115 MS patients, 75 NMO/NMO spectrum disorder (NMOSD) patients, and 238 healthy controls. The single nucleotide polymorphisms (SNPs) rs2104286, rs12722489, and rs7090512 were genotyped by real-time PCR using TaqMan SNP genotyping assays. RESULTS: No significant associations of the three IL2RA SNPs with the development of the diseases were observed. In MS patients only, the annualized relapse rates were significantly higher for the rs2104286-TT genotype than for the non-TT (CT+CC) genotype and for the rs12722489-CC genotype than for the non-CC genotype in females (p = 0.0138 for both), but not in males. CONCLUSIONS: Although the possibility that IL2RA is a risk factor for MS development was not confirmed in this Japanese population, IL2RA gene polymorphisms were able to modify the disease activity in female MS patients, but had no influence on either susceptibility or disease phenotype in NMO/NMOSD patients.