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Please use this identifier to cite or link to this item: https://hdl.handle.net/2445/124329
Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin
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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.
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PIÑOL RIPOLL, Gerard, et al. Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin. Neuromuscular Disorders. 2009. Vol. 19, num. 6, pags. 418-422. [consulted: 13 of October of 2026]. Available at: https://hdl.handle.net/2445/124329