Spontaneous pneumothorax can be associated with <i>TGFBR2</i> mutation

Chambers, Joseph E.; Dalton, Louise; Subramanian, Deepak; Gooptu, Bibek; Balan, Anu; Park, Soo‐Mi; Holden, Simon; Marciniak, Stefan J.

doi:10.1183/13993003.00952-2015

Cited by 7 publications

(4 citation statements)

References 6 publications

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“…Pneumothorax is an occasional feature of Loeys-Dietz syndrome (110). It has been described once as the presenting feature (111). Other features are vascular (arterial aneurysms, dissections, and tortuosity), skeletal (pectus excavatum or carinatum, joint laxity or contractures, cervical spine instability, scoliosis, arachnodactyly, club foot), craniofacial (bifid uvula [ Figure 2K] or cleft palate, hypertelorism, craniosynostosis), cutaneous (translucent skin, dystrophic scars, easy bruising), and uterine (rupture during pregnancy) (112).…”

Section: Syndromes Of Disordered Connective Tissuementioning

confidence: 99%

The Genetics of Pneumothorax

Boone

Scott

Marciniak

et al. 2019

Am J Respir Crit Care Med

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A genetic influence on spontaneous pneumothoraces-those occurring without a traumatic or iatrogenic cause-is supported by several lines of evidence: 1) pneumothorax can cluster in families (i.e., familial spontaneous pneumothorax), 2) mutations in the FLCN gene have been found in both familial and sporadic cases, and 3) pneumothorax is a known complication of several genetic syndromes. Herein, we review known genetic contributions to both sporadic and familial pneumothorax. We summarize the pneumothorax-associated genetic syndromes, including Birt-Hogg-Dubé syndrome, Marfan syndrome, vascular (type IV) Ehlers-Danlos syndrome, alpha-1 antitrypsin deficiency, tuberous sclerosis complex/lymphangioleiomyomatosis, Loeys-Dietz syndrome, cystic fibrosis, homocystinuria, and cutis laxa, among others. At times, pneumothorax is their herald manifestation. These syndromes have serious potential extrapulmonary complications (e.g., malignant renal tumors in Birt-Hogg-Dubé syndrome), and surveillance and/or treatment is available for most disorders; thus, establishing a diagnosis is critical. To facilitate this, we provide an algorithm to guide the clinician in discerning which cases of spontaneous pneumothorax may have a genetic or familial contribution, which cases warrant genetic testing, and which cases should prompt an evaluation by a geneticist.

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Section: Syndromes Of Disordered Connective Tissuementioning

confidence: 99%

The Genetics of Pneumothorax

Boone

Scott

Marciniak

et al. 2019

Am J Respir Crit Care Med

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“…Aneurysms and dissections have also been reported in carotid, vertebral, pulmonary, iliac, popliteal, hepatic, splenic, and coronary arteries . The significance of Loeys–Dietz syndrome is the tendency for rapid progression of disease with the mean age of death being 26.1 years , although aortic dissections have occurred in infants as young as three months of age, and intracerebral hemorrhage in children as young as three years. Atrial fibrillation and left ventricular hypertrophy may be found .…”

Section: Discussionmentioning

confidence: 99%

“…The clinical manifestations and potential findings at autopsy have been summarized in Table , although there is wide variation in the expression of the syndrome among the various subtypes, with familial cases having less severe manifestations. Both nonpenetrance and mosaicism may occur .…”

Section: Discussionmentioning

confidence: 99%

“…Although a single case of Loeys–Dietz syndrome with multiple left ventricular aneurysms has been reported, their exact relationship to the syndrome has yet to be determined . Other rare presentations have been of spontaneous pneumothorax , massive hemoptysis of uncertain etiology , and spontaneous rupture of the spleen and intestine . Mitral valve disease is less common than Marfan syndrome, although there is an increase in incidence of certain congenital cardiac conditions such as patent ductus arteriosus, bicuspid aortic valve, and atrial septal defect .…”

Section: Discussionmentioning

confidence: 99%

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Manifestations and Medicolegal Significance of Loeys–Dietz Syndrome

Byard

2017

Journal of Forensic Sciences

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Loeys-Dietz syndrome is a recently described autosomal dominant disorder with underlying vasculopathy characterized by aortic and other vascular aneurysmal dissection/rupture. A 61-year-old man is reported who died suddenly and unexpectedly and at autopsy was found to have a ruptured abdominal aortic aneurysm. Additional findings included dolichostenomelia, high-arched palate, and pectus excavatum. There was a strong family history of Loeys-Dietz syndrome, although the decedent had never been tested. Death was, therefore, due to a ruptured abdominal aortic aneurysm in a case of probable Loeys-Dietz syndrome. Although Loeys-Dietz syndrome shares common characteristics with Marfan and other connective tissue syndromes, it is a distinct entity with a much more aggressive clinical course. Lethal events may not occur until later adult life; however, the identification of the syndrome and differentiation from other connective tissue disorders at autopsy is important so that genetic investigation of close relatives can be undertaken with prophylactic surgical treatment if necessary.

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Inherited Pulmonary Disorders

Marinicak

Lomas

2017

Encyclopedia of Life Sciences

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Hereditary lung diseases can affect the airways (asthma, COPD, cystic fibrosis and primary ciliary dyskinesia), parenchyma (pulmonary fibrosis, Birt–Hogg–Dubé syndrome and, tuberous sclerosis) and vasculature (hereditary haemorrhagic telangiectasia) of the lung. Such conditions include simple monogenic disorders such as Kartagener syndrome and α1‐antitrypsin, wherein mutations of critical genes are sufficient to induce well‐defined disease phenotypes. However, many are complex genetic traits in which inheritance subtly affects pathogenesis, for example asthma and idiopathic pulmonary fibrosis. A greater understanding of the genetic basis of pulmonary conditions has provided new insights into their underlying pathophysiology and helped in some cases to shed light on more common sporadic forms. Importantly, the identification of causative genes has also enabled prenatal diagnosis and genetic counselling to be introduced for many diseases. Key Concepts Common diseases frequently have a genetic component which with the advent of genome‐wide association studies can now be elucidated. The study of rare monogenic disorders can provide important mechanistic clues to the pathogenesis of more common sporadic disease. Pulmonary manifestations can be the presenting feature of several important inherited diseases. Making a definitive genetic diagnosis permits the practicing of personised medicine. Molecular testing using gene panels and whole genome sequencing is revolutionising respiratory medicine.

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Spontaneous pneumothorax can be associated with TGFBR2 mutation

Cited by 7 publications

References 6 publications

The Genetics of Pneumothorax

The Genetics of Pneumothorax

Manifestations and Medicolegal Significance of Loeys–Dietz Syndrome

Inherited Pulmonary Disorders

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