Tomoya Kono

Surgical treatment for cardiovascular lesions of patients with Marfan syndrome.

OBJECTIVE Without treatment, the life expectancy of patients with Marfan syndrome is reduced by the associated cardiovascular abnormalities. In this study, we reviewed our experience of the surgical treatment of this condition to identify the primary indication for surgical repair and the optimal surgical management. METHODS Between January 1986 and December 2000, 44 patients underwent surgery for Marfan syndrome at Shizuoka City Hospital. There were 28 male and 16 female patients, with a mean age of 40.9 +/- 15.0 years. Nineteen of the patients had developed type A dissection of the aortic arch. Three patients underwent remodelling of the aortic root. Ten patients required multiple repeat surgical interventions. RESULTS There were four early and five late deaths. The survival rate at 1, 5, and at 10 years was 90.9%, 80.5%, and 74.3%, respectively. Freedom from postoperative events, which included cardiac death, additional surgery, and new or repeat aortic dissection at 1, 5, and at 10 years was 93.0%, 69.1%, and 53.2%, respectively. Among patients having type A dissection, the mean annual enlargement in the diameter at the level of the proximal descending aorta was 4.0 +/- 4.0 mm. Postoperative echocardiography with Doppler studies was performed in series on patients who had received remodelling of the aortic root, with subsequent mild aortic regurgitation in 2 patients and moderate regurgitation in 1 patient. CONCLUSIONS Repeated postoperative studies with CT scans and earlier surgical intervention before the onset of aortic dissection are mandatory for improvement in the long-term survival rate of patients with Marfan syndrome. A valve-sparing procedure for a deformed aortic valve is promising, although the long-term results are not yet clear.

Long-term Follow-up of a Patient with Repeated Pneumothorax duringPregnancy and a History of Catamenial Pneumothorax: A Case Report

We report the subsequent course of a previously-reported (Japanese abstract) case of catamenial pneumothorax (CPT) involving seven recurrences of pneumothorax during pregnancy, treated by thoracoscopic surgery and then small thoracotomy segmental resection and pleural covering with polyglycolic acid felt and fibrin glue. The patient took an oral contraceptive (OC) from 6 months postpartum until discontinuation after 2 years to become pregnant. Pregnancy occurred after 1 year and an elective caesarean section was performed in the 37th week of pregnancy. During that period, there was no evidence of recurrence of pneumothorax. Endometriosis-related pneumothorax during pregnancy recurs with high probability following medical management by thoracic drainage. For pneumothorax during pregnancy occurring on the right side followed by early recurrence after medical management by thoracic drainage, endometriosis should be considered to be a possible cause, particularly when there is a past history of endometriosis. In such cases, we recommend early thoracoscopic surgery comprising not only resection of the endometriosis lesions after careful evaluation but also pleurodesis and/or covering with polyglycolic acid felt and fibrin glue. Further studies are needed to clarify and develop appropriate management of pneumothorax in pregnant women with a history of CPT.

A novel germline mutation in a patient with nevoid basal cell carcinoma syndrome showing cystic lesion in the lung

Nevoid basal cell carcinoma syndrome (NBCCS) manifests multiple defects involving the skin, endocrine and nervous systems, eyes and bones. Mutations in the patched homologue 1 (PTCH1) gene are the underlying causes of NBCCS, leading to aberrant cell proliferation through constitutive activation of the hedgehog signaling pathway. We identified a novel frameshift mutation (c.1207dupT) of PTCH1 in a NBCCS patient, which might explain multiple cystic lesions and neoplastic growth in the patient.

Airway compression by the ascending aorta due to a thin thoracic cage

An 89-year-old woman with dyspnea and disturbed consciousness due to hypoventilation was admitted to our hospital. Chest radiography showed no abnormal shadow, but she was intubated for deteriorated hypoventilation. Bronchoscopy demonstrated obstruction of the left main bronchus at the carina. Computed tomography (CT) showed neither a mass lesion in the mediastinum nor an aortic aneurysm, but compression of the airway by the ascending aorta was observed. It was thought that the patient’s thin thoracic cage was unable to support the weight of the ascending aorta, which consequently compressed the left main bronchus. After inserting stents into both main bronchi, the patient’s consciousness improved, and respirator support was withdrawn. In aged, bedridden, thin patients with hypopnea or recurrent airway infection, CT and bronchoscopy should be performed to investigate airway patency.