Massive hemoptysis in Loeys-Dietz syndrome

Christopher L. Bennett; Hamza Aziz; Elizabeth Sparks; Trushil Shah; Mark Yoder; Gretchen Maccarrick; Harry C. Dietz

doi:10.1002/ajmg.a.37487

Massive hemoptysis in Loeys-Dietz syndrome

Christopher L. Bennett, Hamza Aziz, Elizabeth Sparks, Trushil Shah, Mark Yoder, Gretchen Maccarrick, Harry C. Dietz

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Abstract

We describe four unrelated individuals with Loeys-Dietz syndrome (LDS) who presented with massive hemoptysis of unknown etiology. LDS is an autosomal dominant connective-tissue disorder characterized by altered cardiovascular, craniofacial, and skeletal development that is attributed to mutations in the TGFBR1, TGFBR2, SMAD3, or TGFB2 genes. Massive hemoptysis (MH) is a rare and often fatal pulmonary medical emergency. This is the first report of MH in individuals with LDS and establishes it as part of the LDS spectrum. It compels providers to educate their LDS patients on MH, although much investigation needs to be done to determine etiology and appropriate treatment for this newly described LDS feature.

Original language	English (US)
Pages (from-to)	725-727
Number of pages	3
Journal	American Journal of Medical Genetics, Part A
Volume	170
Issue number	3
DOIs	https://doi.org/10.1002/ajmg.a.37487
State	Published - Mar 1 2016

Keywords

Critical care
Hemoptysis
Loeys-Dietz syndrome

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/ajmg.a.37487

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title = "Massive hemoptysis in Loeys-Dietz syndrome",

abstract = "We describe four unrelated individuals with Loeys-Dietz syndrome (LDS) who presented with massive hemoptysis of unknown etiology. LDS is an autosomal dominant connective-tissue disorder characterized by altered cardiovascular, craniofacial, and skeletal development that is attributed to mutations in the TGFBR1, TGFBR2, SMAD3, or TGFB2 genes. Massive hemoptysis (MH) is a rare and often fatal pulmonary medical emergency. This is the first report of MH in individuals with LDS and establishes it as part of the LDS spectrum. It compels providers to educate their LDS patients on MH, although much investigation needs to be done to determine etiology and appropriate treatment for this newly described LDS feature.",

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AU - Sparks, Elizabeth

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AU - Maccarrick, Gretchen

AU - Dietz, Harry C.

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Massive hemoptysis in Loeys-Dietz syndrome

Abstract

Keywords

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