Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin

@article{PiolRipoll2009SevereIC,
  title={Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin},
  author={Gerard Pi{\~n}ol-Ripoll and Alexey Shatunov and A. Mara{\~n}on Cabello and Pilar Larrod{\'e} and Iris de la Puerta and Juana Pelegr{\'i}n and F. J. Hidalgo Ramos and Montse Oliv{\'e} and Lev G. Goldfarb},
  journal={Neuromuscular Disorders},
  year={2009},
  volume={19},
  pages={418-422}
}
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… CONTINUE READING

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