| Title |
Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations
|
|---|---|
| Published in |
Genetics in Medicine, January 2018
|
| DOI | 10.1038/gim.2017.245 |
| Pubmed ID | |
| Authors |
Ellen S Regalado, Lauren Mellor-Crummey, Julie De Backer, Alan C Braverman, Lesley Ades, Susan Benedict, Timothy J Bradley, M Elizabeth Brickner, Kathryn C Chatfield, Anne Child, Cori Feist, Kathryn W Holmes, Glen Iannucci, Birgit Lorenz, Paul Mark, Takayuki Morisaki, Hiroko Morisaki, Shaine A Morris, Anna L Mitchell, John R Ostergaard, Julie Richer, Denver Sallee, Sherene Shalhub, Mustafa Tekin, Montalcino Aortic Consortium, Anthony Estrera, Patricia Musolino, Anji Yetman, Reed Pyeritz, Dianna M Milewicz |
| Abstract |
PurposeSmooth 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.MethodsMedical records of 33 patients with SMDS (median age 12 years) were abstracted and analyzed.ResultsAll patients had congenital mydriasis and related pupillary abnormalities at birth and presented in infancy with a patent ductus arteriosus or aortopulmonary window. Patients had cerebrovascular disease characterized by small vessel disease (hyperintense periventricular white matter lesions; 95%), intracranial artery stenosis (77%), ischemic strokes (27%), and seizures (18%). Twelve (36%) patients had thoracic aortic aneurysm repair or dissection at median age of 14 years and aortic disease was fully penetrant by the age of 25 years. Three (9%) patients had axillary artery aneurysms complicated by thromboembolic episodes. Nine patients died between the ages of 0.5 and 32 years due to aortic, pulmonary, or stroke complications, or unknown causes.ConclusionBased on these data, recommendations are provided for the surveillance and management of SMDS to help prevent early-onset life-threatening complications.GENETICS in MEDICINE advance online publication, 4 January 2018; doi:10.1038/gim.2017.245. |
X Demographics
The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 2 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 65 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 65 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 15 | 23% |
| Researcher | 8 | 12% |
| Other | 5 | 8% |
| Student > Ph. D. Student | 5 | 8% |
| Student > Master | 4 | 6% |
| Other | 8 | 12% |
| Unknown | 20 | 31% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 28 | 43% |
| Biochemistry, Genetics and Molecular Biology | 5 | 8% |
| Agricultural and Biological Sciences | 2 | 3% |
| Unspecified | 2 | 3% |
| Nursing and Health Professions | 1 | 2% |
| Other | 5 | 8% |
| Unknown | 22 | 34% |
Attention Score in Context
This research output has an Altmetric Attention Score of 4. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 07 October 2019.
All research outputs
#7,782,070
of 25,382,440 outputs
Outputs from Genetics in Medicine
#1,922
of 2,945 outputs
Outputs of similar age
#144,566
of 450,436 outputs
Outputs of similar age from Genetics in Medicine
#46
of 59 outputs
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