Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations | Zendy

Ellen S. Regalado | Zendy; Lauren Mellor-Crummey | Zendy; Julie De Backer | Zendy; Alan C. Braverman | Zendy; Lesley C. Adès | Zendy; Susan Benedict | Zendy; Timothy J. Bradley | Zendy; M. Elizabeth Brickner | Zendy; Kathryn C. Chatfield | Zendy; Anne H. Child | Zendy; Cori Feist | Zendy; Kathryn W. Holmes | Zendy; Glen Iannucci | Zendy; Birgit Lorenz | Zendy; Paul R. Mark | Zendy; Takayuki Morisaki | Zendy; Hiroko Morisaki | Zendy; Shaine A. Morris | Zendy; Anna L. Mitchell | Zendy; John R. Østergaard | Zendy; Julie Richer | Zendy; Denver Sallee | Zendy; Sherene Shalhub | Zendy; Mustafa Tekin | Zendy; Anthony L. Estrera | Zendy; Patricia Musolino | Zendy; Anji T. Yetman | Zendy; Reed E. Pyeritz | Zendy; Dianna M. Milewicz | Zendy

Open Access

Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations

Author(s) -

Ellen S. Regalado,

Lauren Mellor-Crummey,

Julie De Backer,

Alan C. Braverman,

Lesley C. Adès,

Susan Benedict,

Timothy J. Bradley,

M. Elizabeth Brickner,

Kathryn C. Chatfield,

Anne H. Child,

Cori Feist,

Kathryn W. Holmes,

Glen Iannucci,

Birgit Lorenz,

Paul R. Mark,

Takayuki Morisaki,

Hiroko Morisaki,

Shaine A. Morris,

Anna L. Mitchell,

John R. Østergaard,

Julie Richer,

Denver Sallee,

Sherene Shalhub,

Mustafa Tekin,

Anthony L. Estrera,

Patricia Musolino,

Anji T. Yetman,

Reed E. Pyeritz,

Dianna M. Milewicz

Publication year - 2018

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2017.245

Subject(s) - medicine , ductus arteriosus , cardiology , aortic dissection , aneurysm , stroke (engine) , stenosis , thoracic aortic aneurysm , aortic aneurysm , surgery , aorta , mechanical engineering , engineering

Smooth muscle dysfunction syndrome (SMDS) due to heterozygous ACTA2 arginine 179 alterations is characterized by patent ductus arteriosus, vasculopathy (aneurysm and occlusive lesions), pulmonary arterial hypertension, and other complications in smooth muscle-dependent organs. We sought to define the clinical history of SMDS to develop recommendations for evaluation and management.

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