Extensive Arterial Tortuosity and Severe Aortic Dilation in a Newborn With an EFEMP2 Mutation
| Autor: | Laura Pezzoli, Maria Iascone, Maria Elena Sana, Giovanna Mangili, Paolo Ferrazzi, Paolo Emilio Bianchi, Flavia Fabiani, Youcef Sadou, Daniela Marchetti, Anna Locatelli, Giorgio Fasolini |
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| Rok vydání: | 2012 |
| Předmět: |
Joint Instability
medicine.medical_specialty Vascular Malformations Scoliosis Left ventricular hypertrophy Severity of Illness Index law.invention Arachnodactyly Aortic aneurysm Pectus excavatum law Physiology (medical) Internal medicine medicine Humans Flexion contracture Extracellular Matrix Proteins Respiratory distress business.industry Infant Newborn Infant Skin Diseases Genetic Arteries medicine.disease Surgery Mutation cardiovascular system Cardiology Female Cardiology and Cardiovascular Medicine business Ground glass |
| Zdroj: | Circulation. 126:2764-2768 |
| ISSN: | 1524-4539 0009-7322 |
| DOI: | 10.1161/circulationaha.112.119883 |
| Popis: | A female newborn was referred at birth to our hospital because of respiratory distress. Her family history was unremarkable except for the first-degree consanguinity of her parents. She had a mildly dysmorphic appearance, generalized hypotonia, and several musculoskeletal features such as joint laxity, arachnodactyly, pectus excavatum, flexion contracture of the wrists, and feet anomalies (Figure 1). Chest radiography showed a right pneumothorax, lungs with a ground glass appearance, elevation of the right hemidiaphragm, and scoliosis (Figure 2). ECG was normal for the age of patient except for a mild left ventricular hypertrophy (Figure 3). Transthoracic echocardiography revealed an aortic annulus of 7.4 mm with mild aortic insufficiency, a dilated aortic root (11 mm), and an ascending aortic aneurysm (11 … |
| Databáze: | OpenAIRE |
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