Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber disease, is an autosomal dominant disorder of the fibrovascular tissue. It is characterized by the classic triad of (muco-)cutaneous telangiectases, arteriovenous malformations with recurrent epistaxis and hemorrhages, and inheritance. A wide variety of clinical manifestations in HHT have been described. In more than 90% of the patients, nosebleeds are the first predominant symptom, therefore ENT physicians often play a key role as far as diagnosis and management of the disease are concerned. In spite of recent diagnostic and therapeutic progress, a cure for this often burdening and handicapping disease is still not available. Apart from affecting the nose, arteriovenous malformations (AVMs) may also affect the skin, lungs, brain, liver and gastrointestinal tract. The two known genes that are implicated in HHT are endoglin (ENG) located on chromosome 9q33-q34 and activin-receptor-like kinase (ALK1) located on chromosome 12q13. Mutations of ENG are observed in HHT type 1 with an incidence up to 40% for pulmonary AVMs, whereas mutations of ALK1 are observed in HHT type 2 with an incidence of only 14% for pulmonary AVMs, which clinically distinguishes these two types of mutation. The emphasis of this paper is mainly on the clinical manifestation, molecular genetics and diagnosis of HHT, taking account of current literature on HHT in order to better understand the complexity of the disease. Recent therapeutic options in the treatment of HHT have been omitted from this paper as they are subject of a following paper. HHT is more common than previously thought and shows a broad range of different clinical organ manifestations that can be sources of substantial morbidity and mortality, making HHT a continuing challenge for many sub-specialties where interdisciplinary diagnostic screening is mandatory in the management of the disease.

Hereditary hemorrhagic telangiectasia: an update on clinical manifestations and diagnostic measures

Objectives Spontaneous pneumothorax is a common pathology. International guidelines suggest pleurodesis for non-resolving air leak or recurrence prevention at second occurrence. This study comprehensively reviews the existing literature regarding chemical pleurodesis efficacy.

Design We systematically reviewed the literature to identify relevant randomised controlled trials (RCTs), case–control studies and case series. We described the findings of these studies and tabulated relative recurrence rates or ORs (in studies with control groups). Meta-analysis was not performed due to substantial clinical heterogeneity.

Results Of 560 abstracts identified by our search strategy, 50 were included in our systematic review following screening. Recurrence rates in patients with chest tube drainage only were between 26.1% and 50.1%. Thoracoscopic talc poudrage (four studies (n=249)) provided recurrence rates of between 2.5% and 10.2% with the only RCT suggesting an OR of 0.10 compared with drainage alone. In comparison, talc administration during video-assisted thoracic surgery (VATS) from eight studies (n=2324) recurrence was between 0.0% and 3.2%, but the RCT did not demonstrate a significant difference compared with bleb/bullectomy alone. Minocycline appears similarly effective post-VATS (recurrence rates 0.0–2.9%). Prolonged air leak and recurrence prevention using tetracycline via chest drain (n=726) is likely to provide recurrence rates between 13.0% and 33.3% and autologous blood patch pleurodesis (n=270) between 15.6% and 18.2%.

Conclusions Chemical pleurodesis postsurgical treatment or via thoracoscopy appears to be most effective. Evidence for definitive success rates of each agent is limited by the small number of randomised trials or other comparative studies.

https://thorax.bmj.com/content/thoraxjnl/72/12/1121.full.pdf

Effectiveness of chemical pleurodesis in spontaneous pneumothorax recurrence prevention: a systematic review

Do Cardiac Neuropeptides Play a Role in the Occurrence of Atrial Fibrillation After Coronary Bypass Surgery

Background: Heart transplantation has become a widely accepted surgical option for end-stage heart failure in Korea since its first success in 1992. We reviewed early postoperative complications and mortality in 239 patients who underwent heart transplantation using bicaval technique in Asan Medical Center. Methods: Between January 1999 and December 2011, a total of 247 patients aged over 17 received heart transplantation using bicaval technique in Asan Medical Center. After excluding four patients with concomitant kidney transplantation and four with heart-lung transplantation, 239 patients were enrolled in this study. We evaluated their early postoperative complications and mortality. Postoperative complications included primary graft failure, cerebrovascular accident, mediastinal bleeding, renal failure, low cardiac output syndrome requiring intra-aortic balloon pump or extracorporeal membrane oxygenation insertion, pericardial effusion, and inguinal lymphocele. Follow-up was 100% complete with a mean follow-up duration of 58.4±43.6 months. Results: Early death occurred in three patients (1.3%). The most common complications were pericardial effusion (61.5%) followed by arrhythmia (41.8%) and mediastinal bleeding (8.4%). Among the patients complicated with pericardial effusion, only 13 (5.4%) required window operation. The incidence of other significant complications was less than 5%: stroke (1.3%), low cardiac output syndrome (2.5%), renal failure requiring renal replacement (3.8%), sternal wound infection (2.0%), and inguinal lymphocele (4.6%). Most of complications did not result in the extended length of hospital stay except mediastinal bleeding (p=0.034). Conclusion: Heart transplantation is a widely accepted option of surgical treatment for end-stage heart failure with good early outcomes and relatively low catastrophic complications.

박국양

Papers

개심술후 유미심낭(Chylopericardium) 합병증의 수술치험 1예

한국 성인의 기관 길이 측정에 관한 연구

양방향 상행대정맥-폐동맥 단락술 후 폐동정맥루(Pulmonary Arteriovenous Fistula)가 발생한 환자에서 시행한 액와동정맥루 (Axillary Arteriovenous Fistula) 형성술

심방중격결손 수술 후 폐색전증을 동반한 우심방 절개 봉합 부위에서의 우심방 혈전의 수술적 치료

일차성 자연 기흉의 흉강경 수술 시 추가로 시행한 Tetracycline 흉막 유착술의 효용