Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin
| العنوان: | Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin |
|---|---|
| المؤلفون: | Ana Cabello, Iris de la Puerta, Montse Olivé, Pilar Larrodé, Aleksey Shatunov, Lev G. Goldfarb, Gerard Piñol-Ripoll, Feliciano J. Ramos, Juana Pelegrín |
| المصدر: | Recercat. Dipósit de la Recerca de Catalunya instname Dipòsit Digital de la UB Universidad de Barcelona |
| بيانات النشر: | Elsevier, 2009. |
| سنة النشر: | 2009 |
| مصطلحات موضوعية: | medicine.medical_specialty, Weakness, Myocardiopathies, DNA Mutational Analysis, Cardiomyopathy, Miocardiopaties, Neurological examination, Biology, Article, Desmin, Electrocardiography, Atrophy, Internal medicine, medicine, Humans, Age of Onset, Genetics (clinical), Sequence Deletion, Muscle biopsy, medicine.diagnostic_test, Muscles, Homozygote, Restrictive cardiomyopathy, Infant, Heart, medicine.disease, Defibrillators, Implantable, Infart de miocardi, Myocardial infarction, Neurology, Pediatrics, Perinatology and Child Health, Cardiology, Female, Neurology (clinical), Age of onset, medicine.symptom, Cardiomyopathies |
| الوصف: | Desminopathy is a genetically heterogeneous disorder with autosomal dominant pattern of inheritance in most affected families; the age of disease onset is on average 30 years. We studied a patient with a history of recurrent episodes of syncope from infancy who later developed second-degree AV block and restrictive cardiomyopathy; she subsequently suffered several episodes of ventricular tachyarrhythmia requiring implantation of bicameral defibrillator. Neurological examination revealed rapidly progressive bilateral facial weakness, winging of the scapulae, symmetric weakness and atrophy of the trunk muscles, shoulder girdle and distal muscles of both upper and lower extremities. Muscle biopsy demonstrated signs of myofibrillar myopathy with prominent subsarcolemmal desmin-reactive aggregates. Molecular analysis identified a homozygous deletion in DES resulting in a predicted in-frame obliteration of seven amino acids (p.R173_E179del) in the 1B domain of desmin. We describe the youngest known desminopathy patient with severe cardiomyopathy and aggressive course leading to the devastation of cardiac, skeletal and smooth musculature at an early age. |
| وصف الملف: | application/pdf |
| اللغة: | English |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e565f823fc7136b81ae2ab6300130ac4Test http://hdl.handle.net/2445/124329Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....e565f823fc7136b81ae2ab6300130ac4 |
| قاعدة البيانات: | OpenAIRE |
| الوصف غير متاح. |