Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome

American Journal of Medical Genetics, Part A

Volumn 173, Issue 4, 2017, Pages 959-965

  Logeswaran, Thushiha ^a   Friedburg, Christoph ^a   Hofmann, Karoline ^a   Akintuerk, Hakan ^a   Biskup, Saskia ^b   Graef, Michael ^a   Rad, Ali ^a   Weber, Axel ^a   Neubauer, Bernd A ^a   Schranz, Dietmar ^a   Bouvagnet, Patrice ^c   Lorenz, Birgit ^a   Hahn, Andreas ^a  

^a JUSTUS LIEBIG UNIVERSITY   (Germany)

^b UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^c UNIVERSITÉ LYON 1   (France)

Author keywords

ACTA2; aortic arch coarctation; aortopulmonary window; congenital mydriasis; interrupted aortic arch; pupil dysfunction; R179H; syndrome of generalized smooth muscle dysfunction

Indexed keywords

ACETYLSALICYLIC ACID; PHENYLEPHRINE; PILOCARPINE; SMOOTH MUSCLE ACTIN; ACTA2 PROTEIN, HUMAN; ACTIN;

ACTA2 GENE; ADULT; AORTA COARCTATION; AORTA VALVE REGURGITATION; AORTOPULMONARY SEPTAL DEFECT; ARTICLE; ARTIFICIAL HEART; CARDIOVASCULAR MAGNETIC RESONANCE; CEREBROVASCULAR ACCIDENT; CLINICAL ARTICLE; CONGENITAL HEART MALFORMATION; CONGESTIVE HEART FAILURE; DISEASE CLASSIFICATION; DISEASE COURSE; DOPPLER FLOWMETRY; ECHOCARDIOGRAPHY; END TO END ANASTOMOSIS; FEMALE; GENE; GENE MUTATION; GENETIC CODE; HEART SURGERY; HEMATOMA; HOSPITAL DISCHARGE; HUMAN; HYPERTENSION; INTERNAL CAROTID ARTERY; LEFT SUBCLAVIAN ARTERY; LUNG ARTERY PRESSURE; MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME; MYDRIASIS; MYOCARDIAL DISEASE; NEUROIMAGING; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOSCOPY; OXYGEN SATURATION; PATENT DUCTUS ARTERIOSUS; PHENOTYPE; POSTOPERATIVE COMPLICATION; POSTOPERATIVE PERIOD; PRIORITY JOURNAL; PULMONARY ARTERY; RETINAL ARTERIOLE; SEQUENCE ANALYSIS; SMOOTH MUSCLE; TACHYPNEA; THORACOTOMY; TRICUSPID VALVE; VASCULAR SMOOTH MUSCLE CELL; VISUAL SYSTEM EXAMINATION; WHITE MATTER LESION; AORTIC ANEURYSM; CASE REPORT; DIAGNOSTIC IMAGING; EYE DISEASE; GENE EXPRESSION; GENETICS; HETEROZYGOTE; METABOLISM; MUTATION; PATHOLOGY; SYNDROME;

ACTINS; ADULT; AORTIC ANEURYSM; DUCTUS ARTERIOSUS, PATENT; EYE DISEASES, HEREDITARY; FEMALE; GENE EXPRESSION; HEART DEFECTS, CONGENITAL; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MUSCLE, SMOOTH; MUTATION; MYDRIASIS; PHENOTYPE; SYNDROME;

EID: 85015896656     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.38102     Document Type: Article

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