Clinical History and Management Recommendations of the Smooth Muscle Dysfunction Syndrome Due to ACTA2 Arginine 179 Alterations

Autor: M. Elizabeth Brickner, Reed E. Pyeritz, Kathryn C. Chatfield, Dianna M. Milewicz, Anthony L. Estrera, Ellen S. Regalado, Hiroko Morisaki, Patricia L. Musolino, Lauren Mellor-Crummey, Susan L. Benedict, Mustafa Tekin, Denver Sallee, Kathryn W. Holmes, Timothy J. Bradley, Cori Feist, Glen J. Iannucci, Julie Richer, Sherene Shalhub, John R. Østergaard, Lesley C. Adès, Anne H. Child, Paul R. Mark, Shaine A. Morris, Anna L. Mitchell, Birgit Lorenz, Julie De Backer, Takayuki Morisaki, Anji T. Yetman, Alan C. Braverman
Jazyk: angličtina
Rok vydání: 2018
Předmět:
Eye Diseases
Hereditary/diagnosis
thoracic aortic aneurysm
030204 cardiovascular system & hematology
Aortopulmonary window
Medical Records
0302 clinical medicine
Axillary artery
Ductus arteriosus
Child
Stroke
Ductus Arteriosus
Patent
Genetics (clinical)
Muscle
Smooth/diagnostic imaging
congenital mydriasis
Mydriasis
Eye Diseases
Hereditary
Ductus Arteriosus
Patent/diagnosis
3. Good health
Dissection
medicine.anatomical_structure
Child
Preschool
Cardiology
cardiovascular system
ACTA2
Adult
medicine.medical_specialty
Adolescent
smooth muscle dysfunction syndrome
Arginine
Thoracic aortic aneurysm
Article
Mydriasis/diagnosis
03 medical and health sciences
patent ductus arteriosus
Young Adult
Aneurysm
Internal medicine
medicine.artery
medicine
Humans
Genetic Predisposition to Disease
cardiovascular diseases
Genetic Testing
Arginine/genetics
Aortic Aneurysm
Thoracic
business.industry
Actins/genetics
Infant
Muscle
Smooth
medicine.disease
Actins
Stenosis
business
030217 neurology & neurosurgery
Aortic Aneurysm
Thoracic/diagnosis
Zdroj: Genetics in medicine : official journal of the American College of Medical Genetics
Regalado, E S, Mellor-Crummey, L, De Backer, J, Braverman, A C, Ades, L, Benedict, S, Bradley, T J, Brickner, M E, Chatfield, K C, Child, A, Feist, C, Holmes, K W, Iannucci, G, Lorenz, B, Mark, P, Morisaki, T, Morisaki, H, Morris, S A, Mitchell, A L, Ostergaard, J R, Richer, J, Sallee, D, Shalhub, S, Tekin, M, Estrera, A, Musolino, P, Yetman, A, Pyeritz, R, Milewicz, D M & Montalcino Aortic Consortium 2018, ' Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations ', Genetics in Medicine, vol. 20, no. 10, pp. 1206-1215 . https://doi.org/10.1038/gim.2017.245
ISSN: 1530-0366
1098-3600
DOI: 10.1038/gim.2017.245
Popis: Purpose: 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. Methods: Medical records of 33 patients with SMDS (median age 12 years) were abstracted and analyzed. Results: All 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. Conclusion: Based on these data, recommendations are provided for the surveillance and management of SMDS to help prevent early-onset life-threatening complications.
Databáze: OpenAIRE
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