Cardiac MRI identifies valvular and myocardial disease in a subset of ANO5-related muscular dystrophy patients
| Autor: | Payam Mohassel, Sandra Donkervoort, Alice B. Schindler, Andrew E. Arai, Pomi Yun, Ranjini Srinivasan, S. Neuhaus, Carsten G. Bönnemann, Jahannaz Dastgir, Ami Mankodi, A. Reghan Foley |
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| Rok vydání: | 2020 |
| Předmět: |
Male
0301 basic medicine Aortic valve medicine.medical_specialty Cardiac fibrosis Anoctamins Contrast Media Magnetic Resonance Imaging Cine Gadolinium Neurological examination Asymptomatic Electrocardiography 03 medical and health sciences 0302 clinical medicine Cardiac magnetic resonance imaging Internal medicine medicine Humans Muscular dystrophy Genetics (clinical) medicine.diagnostic_test business.industry Myocardium Dystrophy Heart Middle Aged medicine.disease Magnetic Resonance Imaging Stenosis 030104 developmental biology medicine.anatomical_structure Neurology Pediatrics Perinatology and Child Health cardiovascular system Cardiology Female Neurology (clinical) medicine.symptom Cardiomyopathies business 030217 neurology & neurosurgery |
| Zdroj: | Neuromuscular Disorders. 30:742-749 |
| ISSN: | 0960-8966 |
| Popis: | Patients with bi-allelic loss-of-function mutations in the gene ANO5 most commonly present with muscular dystrophy. In some studies, patients with ANO5-related dystrophy (ANO5-RD) had evidence of mild cardiac abnormalities; however, cardiac magnetic resonance imaging (MRI) has not been used for myocardial characterization. Ten patients with genetically confirmed ANO5-RD were enrolled in a phenotyping study to better characterize cardiac involvement. Evaluations included medical history, neurological examination and cardiac evaluations (electrocardiogram, echocardiogram and cardiac MRI). All patients were clinically asymptomatic from a cardiac perspective. Muscle MRI was consistent with previous studies of ANO5-RD with increased T1 signal in the posterior and medial compartments of the upper leg and the posterior compartment of the lower leg. Cardiac studies using echocardiography and cardiac MRI revealed dilation of the aortic root and thickening of the aortic valve without significant stenosis in 3/10 patients. There was evidence of abnormal late gadolinium enhancement (LGE) on cardiac MRI in 2/10 patients. In ANO5-RD, the development of cardiac fibrosis, edema or inflammation as demonstrated by LGE has not yet been reported. Cardiac MRI can characterize cardiac tissue and may detect subtle changes before they appear on echocardiography, with potential prognostic implications. |
| Databáze: | OpenAIRE |
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