Cardiac surgery associated with idiopathic thrombocytopenic purpura (ITP) is rare, and only 10 cases have been reported in the literature. In this report, we described the successful surgical management of a patient with ITP, diabetes mellitus and malfunction of mitral bioprosthetic valve. A 62-year-old male, who underwent mitral valve replacement (MVR) by means of a Carpentier-Edwards valve prosthesis and CABG ten years ago, developed malfunction of mitral prosthetic valve. The preoperative platelet count was 52, 000/mm³ and PA-IgG elevated markedly. The diagnosis of ITP was based on findings of bone marrow examinations. Thrombocytopenia was treated by steroids for 4 weeks and large dose γ-globulin (20g/day) for 5 days preoperatively, but platelet count did not increase. Platelet rich plasma (PRP) was transfused prior to cardiopulmonary bypass (CPB) and fresh blood was added to the priming material of CPB. Re-MVR was performed by means of mechanical valve prosthesis. After operation, large doses of γ-globulin and transfusion of PRP were performed for 3 days, and the postoperative course was uneventful. Other reports in addition to this study reveal that cases of cardiac surgery associated with ITP should be initially controlled preoperatively with steroids or high-dose γ-globulin, and if these treatments are harmful or ineffective, splenectomy should be considered.

A 64-year-old woman with dyspnea on exertion was referred to our hospital. CT revealed type B aortic dissection with 7cm of aneurysm including a thrombus in the false lumen at the distal aortic arch. Four intimal tears at the distal aortic arch were closed directly during hypothermic circulatory arrest, and the descending thoracic aorta was tailored without a prosthetic graft after fixation of the dissecting adventitia to the intima at the distal portion of the false lumen. The postoperative course was uneventful and this patient was discharged on the 22nd postoperative day. Three years after surgery, the postoperative CT revealed no evidence of dilatation of the descending thoracic aorta as far as the abdominal aorta although the dissection of thoracoabdominal aorta remained. This technique is effective as an surgical option for chronic type B aortic dissection to minimize operative stress and complications.

A 61-year-old man was referred to our hospital for treatment of hemolytic anemia after ascending aortic replacement aortic dissection. Cine mode magnetic resonance imaging (MRI) showed stenosis at the proximal anastomostic site of a Teflon strip. We diagnosed hemolytic anemia induced by collision of red blood cells on the inverted felt strip. Conservative therapy with Sarpogrelate and β-blockers was effective to treat his hemolytic anemia. However, 7 years later he was re-admitted because of infective endocarditis at the aortic valve, and underwent aortic root replacement. Intraoperative findings showed a stiff and inverted Teflon felt strip causing stenosis of the proximal anastomosis. Hemolytic anemia should be considered a rare complication of using a Teflon felt strip to reinforce anastomosis for acute aortic dissection.

We present a rare case of acute type A dissection which developed compression of the true lumen after starting cardiopulmonary bypass (CPB) with femoral arterial return. In this case, the entry was located in the proximal descending thoracic aorta, and the dissection expanded up to the ascending aorta in a retrograde direction. After starting CPB, the false lumen suddenly enlarged and the true lumen was compressed. We observed those changes by intraoperative transesophageal echocardiography, so the perfusion was stopped immediately. A long arterial cannula (Wessex) was inserted from the left ventricular apex with the tip of the cannula remaining in the true lumen of the ascending aorta, and antegrade perfusion was restarted. After that we could maintain adequate extracorporeal perfusion and the replacement of the total aortic arch was completed uneventfully.

Ten patients, aged 3 to 43 years, with the tetralogy of Fallot underwent in situ pulmonary valve replacement (PVR) 13 times. The implanted valves were a St. Jude Medical prosthesis (3 times) and a bioprosthetic valve (10 times). In 5 patients PVR was performed at the time of radical repair and in the remaining 5 patients PVR was performed after radical repair. Three patients underwent re-PVR at 6 to 13 years after the first PVR. There was one operative death in re-PVR 14 years after the first PVR and one patient died from congestive heart failure 4 years after PVR. In the patients with the tetralogy of Fallot, the rate of PVR in those who had undergone open Brock's operation were significantly higher than that of the patients without open Brock's operation (p<0.05). Actuarial survival rates at 5 years and 10 years were 88.9% and 88.9%, respectively. Rates of freedom from reoperation at 5 years and 10 years were 88.9% and 59.3%, respectively. Although the early operative results are satisfactory, re-PVR is mandatory in the future. Thus the indications of PVR should be considered carefully.

Alport syndrome (AS) is a progressive inherited kidney disease characterized by hearing loss and ocular abnormalities.There are three forms of AS depending on inheritance mode: X-linked Alport syndrome (XLAS), autosomal recessive AS (ARAS), and autosomal dominant AS (ADAS). XLAS is caused by pathogenic variants in COL4A5, which encodes type IV collagen α5 chain, while ADAS and ARAS are caused by variants in COL4A3 or COL4A4, which encode type IV collagen α3 or α4 chain, respectively. In male XLAS or ARAS cases, end-stage kidney disease (ESKD) develops around a median age of 20 to 30 years old, while female XLAS or ADAS cases develop ESKD around a median age of 60 to 70 years old. The diagnosis of AS is dependent on either genetic or pathological findings. However, determining the pathogenicity of the variants detected by gene tests can be difficult. Recently, we applied the following molecular investigation tools to determine pathogenicity: 1) in silico and in vitro trimer formation assay of α345 chains to assess triple helix formation ability, 2) kidney organoids constructed from patients’ induced pluripotent stem cells to identify α5 chain expression on the glomerular basement membrane, and 3) in vitro splicing assay to detect aberrant splicing to determine the pathogenicity of variants. In this review article, we discuss the genetic background and novel assays for determining the pathogenicity of variants. We also discuss the current treatment approaches and introduce exon skipping therapy as one potential treatment option.

Alport syndrome (AS) is a progressive inherited kidney disease characterized by hearing loss and ocular abnormalities.There are three forms of AS depending on inheritance mode: X-linked Alport syndrome (XLAS), autosomal recessive AS (ARAS), and autosomal dominant AS (ADAS). XLAS is caused by pathogenic variants in COL4A5, which encodes type IV collagen α5 chain, while ADAS and ARAS are caused by variants in COL4A3 or COL4A4, which encode type IV collagen α3 or α4 chain, respectively. In male XLAS or ARAS cases, end-stage kidney disease (ESKD) develops around a median age of 20 to 30 years old, while female XLAS or ADAS cases develop ESKD around a median age of 60 to 70 years old. The diagnosis of AS is dependent on either genetic or pathological findings. However, determining the pathogenicity of the variants detected by gene tests can be difficult. Recently, we applied the following molecular investigation tools to determine pathogenicity: 1) in silico and in vitro trimer formation assay of α345 chains to assess triple helix formation ability, 2) kidney organoids constructed from patients’ induced pluripotent stem cells to identify α5 chain expression on the glomerular basement membrane, and 3) in vitro splicing assay to detect aberrant splicing to determine the pathogenicity of variants. In this review article, we discuss the genetic background and novel assays for determining the pathogenicity of variants. We also discuss the current treatment approaches and introduce exon skipping therapy as one potential treatment option.

This is a case of an 81-year-old male who underwent stent-graft (SG) placement for type B aortic dissection at the age of 79. Two and a half years after the surgery, he was diagnosed with SG infection. Although he was scheduled for SG removal and the in-situ replacement of the descending aorta, he had difficulty maintaining oxygenation under single lung ventilation and detaching the severe adhesion of the aneurysm to the lung; therefore, only the aneurysm sac was opened, and abscess drainage was performed. The continuous irrigation and drainage of the aneurysm sac were performed, but the infection did not improve. On the 6th day after the surgery, the aortic aneurysm in the lung adhesion area was left untreated, and an extra-anatomical bypass was performed from the distal aortic arch to the anterior position of the pulmonary hilum, anastomosing with the abdominal aorta. All SGs were removed, the abscess and intima of the aortic aneurysm were extensively excised, and the remaining cavity was filled with omentum. The infection rapidly improved after the surgery, and he was discharged on the 52nd day after admission. Fortunately, the infection did not recur for 2 years since the surgery. This procedure is useful as an option for surgical reconstruction for stent graft infection for which in-situ descending aorta replacement is difficult.