Spontaneous pneumothorax as manifestation of Marfan syndrome

Viveiro, Carolina; Rocha, P; Carvalho, Cristiana; Zarcos, Maria Manuel

doi:10.1136/bcr-2013-201697

Cited by 7 publications

(6 citation statements)

References 7 publications

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“…Cases with pneumothorax as initial diagnosis of Marfan syndrome are uncommon, and even less common in adults. Rocha et al (10) study in 2008 described a 14-year-old boy and Viveiro et al (11) study in 2013 described a 16-year-old young individual, both of whom were previously healthy and had developed recurrent spontaneous pneumothorax as initial symptoms of Marfan Syndrome.…”

Section: Discussionmentioning

confidence: 99%

Marfan syndrome with pneumothorax: case report and review of literatures

et al. 2017

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Marfan syndrome is a multisystem connective tissue disorder of autosomal dominant inheritance, which typically involves manifestations of the cardiovascular, skeletal, and ocular systems. Pulmonary involvement occurs less frequently. We report a case of a 28-year-old woman suffering from hours of sudden onset, progressive shortness of breath and right-sided chest pain. On physical examination, she presented decreased breath sound on the right side of chest, together with severe scoliosis and marfanoid habitus. The chest computed tomography (CT) suggested hydropneumothorax in right lung. Computer tomographic angiography (CTA) of aorta showed aneurysm-like aortic root dilation at 52 mm with mild to moderate aortic regurgitation. Marfan syndrome was diagnosed and David I operation and bullectomy were performed. showed aneurysm-like aortic root dilation at 52 mm with mild to moderate aortic regurgitation, mild mitral valve prolapses with mild to moderate mitral valve regurgitation.According to the 2010 Revised Ghent Nosology for Marfan syndrome (6), the patient was diagnosed as Marfan syndrome and she presented the following situations: (I) suspected family history; (II) aneurysm-like aortic root dilation at 52 mm in diameter; (III) severe scoliosis (>20°); (IV) characteristic facial appearance: enophthalmos, dolichocephaly, underdeveloped cheekbones; (V) severe myopia >3 diopters; (VI) spontaneous pneumothorax; (VII) arachnodactyly; (VIII) mild to moderate mitral valve prolapse; (IX) positive wrist sign ( Figure 1A).Surgical repair of the thoracic aorta (David operation) and bullectomy were undertaken as treatments for severe aortic root dilation (7,8) and progressive pneumothorax after Marfan syndrome was diagnosed. Intraoperative transesophageal echocardiography showed dilations in aortic sinus and ascending aorta. There was mild to moderate aortic valve regurgitation without thickening or calcification of aortic valves. With the patient positioned supine, operative exposure was obtained via median sternotomy. The aneurysmlike aortic sinus was exposed and there were dilations of aortic sinus at 55 mm and of ascending aorta at 28 mm in diameter. Intracardiac exploratory operation showed aneurysm-like aortic sinus dilation at 55 mm in diameter without thickening of aortic valves or restriction of valve movements. The patient underwent David I operation and the aortic sinus was replaced with an artificial tube graft of 32 mm in diameter. Via opening the right mediastinal pleura, the exploration of the right chest cavity was achieved and the bullectomy was performed by using endoscopic staplers.The patient underwent an event-free recovery and was discharged 20 days post-operatively. Chest X-ray showed less pneumothorax after the surgery. DiscussionThe case introduced a patient with undiagnosed Marfan syndrome who was admitted to hospital due to spontaneous pneumothorax as an initial symptom. The diagnosis of Marfan syndrome was based on her marfanoid habitus, imaging characteristics and the history of sev...

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Section: Discussionmentioning

confidence: 99%

Marfan syndrome with pneumothorax: case report and review of literatures

et al. 2017

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“…Even now, spontaneous pneumothorax, a minor systemic criterion in the Ghent algorithm for Marfan syndrome, can be the initial clinical context that ultimately leads to the Marfan syndrome diagnosis; nonetheless, the true prevalence among all Marfan syndrome patients is unknown [170,184,185]. Small studies indicate a much higher prevalence in Marfan syndrome compared with the general population [171,186,187]. Upper lobe blebs, pulmonary cysts, and overt emphysema, sometimes revealed as incidental findings on imaging, all predispose to pneumothorax.…”

Section: Parenchymal Lung Diseasementioning

confidence: 99%

Features of Marfan syndrome not listed in the Ghent nosology – the dark side of the disease

Kodolitsch

Demolder

Girdauskas

et al. 2019

Expert Review of Cardiovascular Therapy

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Introduction: The revised Ghent nosology presents the classical features of Marfan syndrome. However, behind its familiar face, Marfan syndrome hides less well-known features. Areas covered: The German Marfan Organization listed unusual symptoms and clinical experts reviewed the literature on clinical features of Marfan syndrome not listed in the Ghent nosology. Thereby we identified the following features: (1) bicuspid aortic valve, mitral valve prolapse, pulmonary valve prolapse, tricuspid valve prolapse, (2) heart failure and cardiomyopathy, (3) supraventricular arrhythmia, ventricular arrhythmia, and abnormal repolarization, (4) spontaneous coronary artery dissection, anomalous coronary arteries, and atherosclerotic coronary artery disease, tortuosity-, aneurysm-, and dissection of large and medium-sized arteries, (5) restrictive lung disease, parenchymal lung disease, and airway disorders, (6) obstructive-and central sleep apnea, (7) liver and kidney cysts, biliary tract disease, diaphragmatic hernia, and adiposity, (8) premature labor, and urinary incontinence, (9) myopathy, reduced bone mineral density, and craniofacial manifestations, (10) atrophic scars, (11) caries, and craniomandibular dysfunction, (12) headache from migraine and spontaneous cerebrospinal fluid leakage, (13) cognitive dysfunction, schizophrenia, depression, fatigue, and pain, (14) and activated fibrinolysis, thrombin, platelets, acquired von Willebrand disease, and platelet dysfunction. Expert commentary: Future research, nosologies, and guidelines may consider less well-known features of Marfan syndrome. ARTICLE HISTORY

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“…Patients who have Marfanoid features such as long stature, hyperextendable joints, and dislocated lens should be studied by CT scanning to identify blebs and bullae. This may allow risk stratification for pneumothorax in patients with this syndrome and also favors identification of aortic root disease, which leads to aneurysmal dilation, aortic regurgitation, and dissection [26,27]. A multidisciplinary approach is fundamental in these patients and their family, who must be thoroughly investigated, to confirm the disease and to initiate the treatment, thus decreasing mortality, especially due to cardiovascular causes; also a medical genetics consultation should be provided for genetic counseling [28].…”

Section: Epidemiologymentioning

confidence: 99%

Primary Spontaneous Pneumothorax, a Clinical Challenge

Vallejo¹,

Romero²,

Mejia³

et al. 2019

Pneumothorax

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Primary spontaneous pneumothorax (PSP) is a common disease in medical practice that affects young healthy people with a significant recurrence rate. PSP is the presence of air in the pleural space not caused by injury or medical intervention. Some risk factors include male gender, age, and smoking. Classic clinical presentation starts with acute-onset chest pain and shortness of breath. Physical examination can be normal in small pneumothoraces, but in larger pneumothoraces, breath sounds and tactile fremitus are typically decreased or absent, and percussion is hyperresonant. Chest X-ray can help confirm the diagnosis. Evacuation of air from the pleural cavity and prevention of future recurrences are the primary goals of treatment and depend on the patient's presentation. Initial deciding factors to direct the management are first-time or recurrent spontaneous pneumothorax and size of the pneumothorax. Treatment may include conventional chest tube drainage, video-assisted thoracoscopic surgery (VATS), or open surgery.

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Spontaneous pneumothorax as manifestation of Marfan syndrome

Cited by 7 publications

References 7 publications

Marfan syndrome with pneumothorax: case report and review of literatures

Marfan syndrome with pneumothorax: case report and review of literatures

Features of Marfan syndrome not listed in the Ghent nosology – the dark side of the disease

Primary Spontaneous Pneumothorax, a Clinical Challenge

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