A Case of Hb Aalborg (HBB: c.223G>C) with Chronic Obstructive Pulmonary Disease: A First Familial Presentation in Japan.

The proband was a male in his seventies who came to our facility because of shortness of breath. He was not anemic but presented dissociation between oxygen saturation (SpO2) and partial pressure of oxygen (PaO2) by blood gas analysis, and also demonstrated hemoglobinopathy after measurement of Hb A1c using high performance liquid chromatography (HPLC). Twenty-three percent of unknown hemoglobin (Hb) bands were detected. After sequencing the ß-globin gene, we noted a missense mutation at codon 74 (GGC>CGC) (Gly→Arg) of the ß-globin chain and he was diagnosed with Hb Aalborg (HBB: c.223G>C). One of the proband's siblings was diagnosed to have a low SpO2 level and also diagnosed to carry Hb Aalborg; she was also mildly anemic. This is the first known familial case of Hb Aalborg in Japan. In addition to Hb Aalborg, our case had underlying chronic obstructive pulmonary disease (COPD). Herein we present this case as a rare addition to the hematological literature.

Surgical strategy for aortoesophageal fistula in the endovascular era.

OBJECTIVE: Aortoesophageal fistula (AEF) is relatively rare and usually life-threatening. Lots of strategies have so far been discussed for this entity including the role of endovascular repair. The aim of this study is to review our experiences and reconsider the surgical strategy for aortoesophageal fistula in the endovascular era. METHODS: This is a retrospective multicenter study. From 1995 to 2011, 10 aortoesophageal fistula cases were identified in four institutions. For all of these cases surgical procedures and results were retrieved from medical records. RESULTS: Six patients underwent open aortic repair and four patients underwent thoracic endovascular aortic repair (TEVAR) as a primary intervention. Three patients who underwent open aortic repair with esophagectomy and omental coverage in early phase, either as a primary intervention or performed after bridging TEVAR, showed 100 % 1-year survival. On the other hand, three patients with TEVAR alone did not survive more than 1 year without recurrence. One patient with bridging TEVAR underwent concomitant esophageal resection and conventional aortic graft replacement 2 days later, and simultaneous gastric tube reconstruction was performed with intact whole omentum covering the aortic prosthesis. This patient is doing well with no sign of infection at 1-year follow-up. CONCLUSION: For AEF, TEVAR as a primary approach is quite useful to stabilize the patients' condition. However, definitive aortic repair with omental coverage should be performed as early as possible as a next step. It may be one of the strategies for the treatment of AEF that concomitant esophageal resection and aortic graft replacement is performed with simultaneous gastric tube reconstruction with intact whole omentum after removing the stent graft, so far as the patient's physical condition permits.

Immunoglobulin G4-related disease of the heart causing aortic regurgitation and heart block.

Immunoglobulin (Ig) G4-related disease is a novel disease entity characterized by diffuse lymphoplasmacytic infiltrates and the presence of abundant IgG4-positive plasma cells in extensive fibrosis, frequently associated with tumorous swelling lesion and elevated serum IgG4 concentrations. Immunoglobulin G4-related disease has been described in almost every organ system but rarely affects the heart. We describe a rare case of IgG4-related disease of the heart causing aortic regurgitation and heart block in a 59-year-old woman. The excised lesion revealed a high ratio of IgG4-positive to IgG-positive plasma cells, providing a definite diagnosis of IgG4-related disease. The aortic valve was replaced using Manouguian technique, resulting in a favorable outcome.