Tsuyoshi Taketani

Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 gene.

Marfan syndrome (MS) is an inherited connective tissue disorder, and detailed evaluations of multiple organ systems are required for its diagnosis. Genetic testing of the disease-causing fibrillin-1 gene (FBN1) is also important in this diagnostic scheme. The aim of this study was to define the clinical characteristics of Japanese patients with MS and enable the efficient and accurate diagnosis of MS with mutational analysis using a high-throughput microarray-based resequencing system. Fifty-three Japanese probands were recruited, and their clinical characteristics were evaluated using the Ghent criteria. For mutational analysis, an oligonucleotide microarray was designed to interrogate FBN1, and the entire exon and exon-intron boundaries of FBN1 were sequenced. Clinical evaluation revealed more pulmonary phenotypes and fewer skeletal phenotypes in Japanese patients with MS compared to Caucasians. The microarray-based resequencing system detected 35 kinds of mutations, including 23 new mutations. The mutation detection rate for patients who fulfilled the Ghent criteria reached 71%. Of note, splicing mutations accounted for 19% of all mutations, which is more than previously reported. In conclusion, this comprehensive approach successfully detected clinical phenotypes of Japanese patients with MS and demonstrated the usefulness and feasibility of this microarray-based high-throughput resequencing system for mutational analysis of MS.

Impact of Complete Revascularization on Long-Term Outcomes After Coronary Artery Bypass Grafting in Patients With Left Ventricular Dysfunction

BACKGROUND The long-term outcomes of complete revascularization (CR) in patients with left ventricular (LV) dysfunction undergoing coronary artery bypass grafting (CABG) remain unclear. Methods and Results: We evaluated a consecutive series of 111 patients with LV ejection fraction ≤35% who underwent isolated first-time CABG: 63 underwent CR and 48 underwent incomplete revascularization (IR). At a median follow-up of 10.1 years, the rates of death from any cause, cardiac death, and major adverse cardiac and cerebrovascular events (MACCE) were significantly greater in the IR group. After adjusting for propensity score, no significant difference was found between the CR and IR groups regarding death from any cause (hazard ratio [HR], 1.45; 95% CI: 0.75-2.81; P=0.271) and cardiac death (HR, 1.45; 95% CI: 0.68-3.10; P=0.337). In contrast, IR increased the risk of MACCE (HR, 1.92; 95% CI: 1.08-3.41; P=0.027), which was principally attributed to an increased risk of repeat revascularization (HR, 3.92; 95% CI: 1.34-11.44; P=0.013). CONCLUSIONS Although IR was not significantly associated with an increased risk of long-term mortality in patients with LV dysfunction who underwent CABG, CR might reduce the risks of repeat revascularization and subsequent MACCE.

Guidelines for Perioperative Cardiovascular Evaluation and Management for Noncardiac Surgery (JCS 2014) ― Digest Version ―

The first edition of the “Guidelines for Perioperative Cardiovascular Evaluation and Management for Noncardiac Surgery” was created in 2002,1 and was revised after five years.2 As more and more elderly patients undergo surgery, and techniques for diagnosis and treatment of cardiovascular disorders have advanced substantially, the second revision has become necessary. In this second revision, the guidelines were revised substantially in terms of the positioning of coronary interventions for patients undergoing non-cardiac surgery, especially those using drug-eluting stents (DES), and aortic stent grafting, and how to use these new techniques with conventional procedures. Guidelines for other cardiovascular disorders were revised to reflect new findings. As the credibility of randomized clinical studies on the perioperative use of beta blockers, such as the Dutch Echocardiographic Cardiac Risk Evaluation Applying Stress Echocardiography (DECREASE) study,2a was questioned2b and became a major issue, the American College of Cardiology and American Heart Association revised their ACC/AHA guidelines on the perioperative use of beta blockers for patients undergoing noncardiac surgery in August 2014. At the same time, the European Society of Cardiology and the European Society of Anesthesiology also revised their ESC/ESA guidelines on this matter.3,4 The guidelines for the use of beta blockers were revised in this version according to the above guidelines.

Acute Stenosis of Porcine Stentless Bioprosthesis Caused by Infective Endocarditis

A 54-year-old man who underwent aortic valve replacement with a Prima Plus stentless bioprosthesis (Edwards Lifesciences, Irvine, Calif) with the use of a subcoronary technique 4 months previously was referred to our hospital with prosthetic valve endocarditis. Clinical symptoms and laboratory test data had been improving since the patient began antibiotic treatment; however, inflammatory markers remained, and blood cultures were positive for coagulase-negative staphylococci. Echocardiography revealed multiple vegetations on the prosthesis and a partial detachment of its proximal suture line (Movie I), but there …