Pulmonary Histologic Changes in Marfan Syndrome

Dyhdalo, Kathryn S.; Farver, Carol

doi:10.1309/ajcp79sndhgkqfin

Cited by 59 publications

(46 citation statements)

References 23 publications

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“…5,6 For other pneumothorax-associated syndromes, clearly identifiable pathologic features have been elusive, despite careful analysis. For example, a recent article evaluating known cases of Marfan syndrome 7 describes distal acinar (paraseptal) emphysema as a feature of Marfan syndrome. However, that is also a feature believed to represent a nonspecific reaction to a pneumothorax.…”

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confidence: 99%

“…However, that is also a feature believed to represent a nonspecific reaction to a pneumothorax. 7,8 Identifying the underlying disorder may carry important clinical ramifications, exemplified by the development of renal tumors in Birt-Hogg-Dubé syndrome and aortic root dissection in patients with Marfan syndrome. With this in mind, we conducted a multicenter, 10-year, retrospective review of all cases of SP with the hope of identifying and correlating histopathologic patterns with specific clinical entities.…”

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confidence: 99%

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A Unique, Histopathologic Lesion in a Subset of Patients With Spontaneous Pneumothorax

Belchis

Shekitka

Gocke

2012

Archives of Pathology &Amp; Laboratory Medicine

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Context.-Spontaneous pneumothorax can be idiopathic (primary), or it can occur in association with an underlying predisposing condition (secondary). Spontaneous pneumothorax may be a harbinger of an undiagnosed clinical condition, which may be associated with serious systemic abnormalities, making early recognition and diagnosis important. The pulmonary pathology of some of these disorders has not been fully elucidated.Objective.-To review cases of pneumothorax in the hope of identifying pathologic features that might correlate to specific clinical syndromes.Design.-The pathology computer files at 3 hospitals were searched for all cases of spontaneous pneumothorax, primary and secondary, regardless of etiology during a 11-year period. Ninety-two cases were retrieved. Each of the cases was evaluated for reactive eosinophilic pleuritis, elastosis, pleural fibrosis, emphysema, intra-alveolar macrophages, cholesterol clefts, vasculopathy, and intraparenchymal or intrapleural cysts. Clinical information regarding asthma and smoking history, site of the pneumothorax, family history, radiographic findings, predisposing conditions, recurrence, age, and sex were extracted from the medical records.Results.-In 11 patients (12% of all the patients with spontaneous pneumothorax), a distinctive pattern of pleural fibrosis with islands of fibroblastic foci within a myxoid stroma was noted at the pleural-parenchymal interface or leading edge. These lesions correlated with a select subset of patients, consisting predominantly of young men.Conclusions.-Our review identified a distinct pattern of pneumothorax-associated fibroblastic lesions in a subset of cases of spontaneous pneumothorax. Whether this is related to the pathogenesis of the pneumothorax remains to be elucidated.

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A Unique, Histopathologic Lesion in a Subset of Patients With Spontaneous Pneumothorax

Belchis

Shekitka

Gocke

2012

Archives of Pathology &Amp; Laboratory Medicine

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“…Autosomal dominant mutations result in abnormal fibrillins in Marfan syndrome and congenital contractural arachnodactyly (Beals syndrome) and in defects in the TGF-b receptor in Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome. These lead to excessive TGF-b activation and signaling, which play a key pathophysiologic role in the connective tissue abnormalities in these syndromes (6,7,(46)(47)(48), including dilation of the dural sac (dural ectasia), implying reduced integrity of this connective tissue matrix (25,28,47).…”

Section: Discussionmentioning

confidence: 99%

“…Patients with these disorders demonstrate diverse manifestations of disorganized connective tissue matrices, particularly in the cardiovascular and skeletal systems, but also in the lung (6)(7)(8)(9). Autosomal dominant mutations result in excessive transforming growth factor (TGF)-b activation and signaling, which are important factors in the connective tissue abnormalities seen in individuals with these syndromes.…”

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Enlarged Dural Sac in Idiopathic Bronchiectasis Implicates Heritable Connective Tissue Gene Variants

Daniels¹,

Birchard

Lowe

et al. 2016

Annals ATS

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Rationale: Patients with idiopathic bronchiectasis are predominantly female and have an asthenic body morphotype and frequent nontuberculous mycobacterial respiratory infections. They also demonstrate phenotypic features (scoliosis, pectus deformity, mitral valve prolapse) that are commonly seen in individuals with heritable connective tissue disorders.Objectives: To determine whether lumbar dural sac size is increased in patients with idiopathic bronchiectasis as compared with control subjects, and to assess whether dural sac size is correlated with phenotypic characteristics seen in individuals with heritable connective tissue disorders.Methods: Two readers blinded to diagnosis measured anteriorposterior and transverse dural sac diameter using L1-L5 magnetic resonance images of 71 patients with idiopathic bronchiectasis, 72 control subjects without lung disease, 29 patients with cystic fibrosis, and 24 patients with Marfan syndrome. We compared groups by pairwise analysis of means, using Tukey's method to adjust for multiple comparisons. Dural sac diameter association with phenotypic and clinical features was also tested. Measurements and Main Results:The L1-L5 (average) anterior-posterior dural sac diameter of the idiopathic bronchiectasis group was larger than those of the control group (P , 0.001) and the cystic fibrosis group (P = 0.002). There was a strong correlation between increased dural sac size and the presence of pulmonary nontuberculous mycobacterial infection (P = 0.007) and long fingers (P = 0.003). A trend toward larger dural sac diameter was seen in those with scoliosis (P = 0.130) and those with a family history of idiopathic bronchiectasis (P = 0.149).Conclusions: Individuals with idiopathic bronchiectasis have an enlarged dural sac diameter, which is associated with pulmonary nontuberculous mycobacterial infection, long fingers, and family history of idiopathic bronchiectasis. These findings support our hypothesis that "idiopathic" bronchiectasis development reflects complex genetic variation in heritable connective tissue and associated transforming growth factorb-related pathway genes.Keywords: bronchiectasis; nontuberculous mycobacteria; heritable connective tissue disorders; dural sac diameter Correspondence and requests for reprints should be addressed to M.

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“…f. Respiratory system blisters (bullae) in the pulmonary parenchyma (most commonly detected in the upper lobes), rupture of which may lead to spontaneous pneumothorax. 1,6,26 MRI provides the ability to detect the presence and extent of the aneurysm of the aorta and of these aneurysms relationship with the vessels of the aortic arch. 27 Samples from the aortic root wall of tunica media reveal fragmentation of elastic fibers, cystic necrosis, fibrosis and loss of smooth muscle fibers that reflect the damage and repair process.…”

Section: 25mentioning

confidence: 99%

Pregnancy and Childbirth in Patients With Syndrome-Marfan

Zacharias¹,

Nikolaos²,

Emmanuel³

2017

Gynecol Obstet Res Open J

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Marfan syndrome (MFS) is an autosomal dominant condition with a reported incidence rate of 1 in 3000 to 5000 individuals. The majority of cases of MFS are caused by a mutation in the fibrillin-1 gene (FBN1). Transforming growth factor β (TGF-β) plays an important role in Marfan syndrome. The identification of the FBN-1 mutation will help identify potentially affected family members and promote prenatal diagnostic testing. β blockers decrease myocardial contractility and pulse pressure and may also improve the elastic properties of the aorta. Angiotensin II-receptor blockers attenuate the clinical manifestations of MFS.

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Pulmonary Histologic Changes in Marfan Syndrome

Cited by 59 publications

References 23 publications

A Unique, Histopathologic Lesion in a Subset of Patients With Spontaneous Pneumothorax

A Unique, Histopathologic Lesion in a Subset of Patients With Spontaneous Pneumothorax

Enlarged Dural Sac in Idiopathic Bronchiectasis Implicates Heritable Connective Tissue Gene Variants

Pregnancy and Childbirth in Patients With Syndrome-Marfan

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