A Case Of Marfan Syndrome With Spontaneous Pneumothorax: A Case And Review Of The Literature

Objective:The etiology of Marfan syndrome is not clear yet.It is usually considered as an autosomal dominant connective tissue genetic disease.However,there are occasional recessive inheritance,which often involves systemic multiple system.The problems of cardiovascular,bone,skin,eye tissue,and lung tissue are the main manifestations.The patients with Marfan syndrome are complicated with spontaneous pneumothorax,often with severe symptoms,so early diagnosis and early treatment are particularly important.In this paper,we reviewed the literature review and a case report of Marfan syndrome with spontaneous pneumothorax,and raised the understanding of the clinical manifestation,diagnosis,differential diagnosis,treatment and treatment status of this disease.Methods:Clinical data of a case of Marfan syndrome with spontaneous pneumothorax admitted to the Department of thoracic surgery,Shengjing Hospital affiliated to China Medical University?Combined with case analysis and literature review are carried out in combination with the case reports pub:lished by Chinese journal full text database(CNKI)and Wanfang database.Result : In clinical MFS,there are often familial aggregation,and the incidence is about 0.2 per thousand ~0.3 per thousand.Although the clinical is extremely rare,but the morbidity of this disease is high and sudden death occurs easily.It is believed that it is mainly related to the gene mutation of the profibrin-1(FBN-1)and the transforming growth factor 2 beta(TGF-2 beta)receptor.Because of the formation of sedimentary micro fiber FBN1 on muscle elastic protein play a supporting role,FBN1 gene mutation can cause the lateral association between elastin and tissue polypeptide damage;in addition to the deposition of acid mucopolysaccharides,increased sialic acid,hyaluronic acid and chondroitin sulfate to form the accumulation of bad or excessive damage,which lead to fibril protein aggregation and secretion ofextracellular matrix and the defects in the deposition,and the friction of micro fiber and shorter and the incidence of.TGFB2 R gene mutation and TGF2 beta activity and signal transduction disorder,calcification and the growth of the latter and cartilage formation and long bone,it may also be the cause of abnormal skeletal MFS.MFS's disease is mainly related to the development of mesoderm,such as the skeletal system,the eye,the cardiovascular system and connective tissue.The exact cause of MFS patients complicated with spontaneous pneumothorax is unclear,most studies suggest that patients with MFS are prone to cause pneumothorax following 4 points:(1)the lung and airway by embryonic mesoderm to enrich the connective tissue,the thorax and lung and tract development are not parallel,easy to cause the chest the deformity,biapical pulmonary bullae formation,similar to restrictive lung disease.(2)the accumulation of chondroitin sulfate A or C and other visceral polysaccharides in Marfan syndrome affects the structure and function of elastin in lung tissue,and promotes pleural thickening caused by fibrosis and pleural fibrosis.(3)MFS patients with a-anti trypsin activity material defects,the elastase activity increased,elastin is digested by dissolution,alveolar support structure defects(4)because the elastin deposition disorder,vascular wall thinning,can appear double lung blood stasis,clinical manifestations,chest tightness,cough,expectoration,shortness of breath induced bullae rupture.The clinical manifestations of pneumothorax are usually typical.With the popularity of X-ray,CT and other imaging technologies,we can make definite diagnosis,but we should pay attention to heart related diseases at the same time.For young,high-stature and MFS-History inauspicious pneumothorax,attention should be paid to physical examination and family history,except for the possibility of having MFS at the same time.For the treatment of the existing spontaneous pneumothorax,if the situation is urgent,a crude needle should be taken to depressurization,and at the same time,we should strive for a closed thoracic drainage.When the lung parenchyma is fully expanded,the volume of the pulmonary parenchyma is less than 50ml/d,and the 24 h image of the clamp drainage tubeconfirms no air leakage and can be pulled out of the chest tube.Turner and others believe that if there is a pulmonary bullae or persistent gas leakage,surgical resection of the pulmonary bullae should be performed at the same time with the pleura fixation.Amis,Paul,etc.think that if spontaneous pneumothorax occurs 2 times on the same side,it is suggested that partial pneumonectomy should be performed at the same time with pleural fixation.Suzuki believes that if the existence of ipsilateral hypoplastic pulmonary bullae,closed thoracic drainage has high recurrence rate,so for the first time to advocate spontaneous pneumothorax underwent radical surgical treatment to prevent recurrent pneumothorax,although there is currently no related research shows that what treatment is the most appropriate way,but I think.If the MFS images of patients suggests the presence of thin-walled bullae,regardless of whether the occurrence of pneumothorax,have recommended surgical treatment;if episodes of pneumothorax,also recommend surgical treatment as soon as possible,to avoid causing patients with MFS disease progression,overall physical condition is not suitable for surgery.Conclusion: The incidence of Marfan syndrome is relatively low.There are fewer reports related to spontaneous pneumothorax.For those with the above symptoms,chest X-ray or chest CT examination,combined with the patient's past medical history,can be diagnosed.Thoracentesis and closed thoracic drainage are commonly used conservative treatment.In view of the fact that most patients often have recurrent attacks,surgical resection of pulmonary bullae is relatively effective.Clinicians can choose according to the basic conditions of patients and surgeons.