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.
authors.affiliation: University of North Carolina School of Medicine, Chapel Hill, North Carolina.|The Howard Hughes Medical Institute, Baltimore, Maryland.|McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.
authors.forename: Christopher L
authors.initials: CL
authors.lastname: Bennett
authors.affiliation: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.
authors.forename: Hamza
authors.initials: H
authors.lastname: Aziz
authors.affiliation: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Sparks
authors.affiliation: Rush University Medical Center, Chicago, Illinois.
authors.forename: Trushil
authors.initials: T
authors.lastname: Shah
authors.affiliation: Rush University Medical Center, Chicago, Illinois.
authors.forename: Mark
authors.initials: M
authors.lastname: Yoder
authors.affiliation: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.
authors.forename: Gretchen
authors.initials: G
authors.lastname: MacCarrick
authors.affiliation: The Howard Hughes Medical Institute, Baltimore, Maryland.|McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.
authors.forename: Harry C
authors.initials: HC
authors.lastname: Dietz
mesh_terms: D000293:Adolescent; D000328:Adult; D017809:Fatal Outcome; D005260:Female; D006469:Hemoptysis / Q000175:diagnosis* / Q000209:etiology / Q000628:therapy; D006801:Humans; D055947:Loeys-Dietz Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D008297:Male; D008875:Middle Aged; D016896:Treatment Outcome; D055815:Young Adult
keywords: Loeys-Dietz syndrome; critical care; hemoptysis