Sudden cardiac arrest in a child with nemaline myopathy
نویسندگان
چکیده
منابع مشابه
Sudden cardiac arrest in a child with nemaline myopathy
BACKGROUND Nemaline myopathy is a rare, non progressive congenital skeletal muscle disorder defined by the presence of inclusions known as nemaline rods in muscle fibers. Several clinical subtypes have been described, according to degree of muscle weakness, severity and age at onset. The course of nemaline myopathy is very slowly progressive, and death is usually due to respiratory failure. Car...
متن کاملPotential causes of sudden cardiac death in nemaline myopathy
Letter to the Editor With interest we read the article by Marseglia et al. about a 6yo boy with nemaline myopathy (NM) but without evidence for previous cardiac disease who experienced non-triggered asystole, underwent prolonged resuscitation, and died 1 week later from secondary cerebral hypoxia [1]. We have the following comments and concerns. Was the previous history positive for palpitation...
متن کاملNemaline myopathy with dilated cardiomyopathy in childhood.
We present a case of a 9-year-old boy with nemaline myopathy and dilated cardiomyopathy. The combination of nemaline myopathy and cardiomyopathy is rare, and this is the first reported case of dilated cardiomyopathy associated with childhood-onset nemaline myopathy. A novel mutation, p.W358C, in ACTA1 was detected in this patient. An unusual feature of this case was that the patient's cardiac f...
متن کاملSarcomere Dysfunction in Nemaline Myopathy
Nemaline myopathy (NM) is among the most common non-dystrophic congenital myopathies (incidence 1:50.000). Hallmark features of NM are skeletal muscle weakness and the presence of nemaline bodies in the muscle fiber. The clinical phenotype of NM patients is quite diverse, ranging from neonatal death to normal lifespan with almost normal motor function. As the respiratory muscles are involved as...
متن کاملFatal nemaline myopathy in infancy.
The clinical and neuropathological findings in two infants with congenital nemaline myopathy are described. One patient presented at birth with severe hypotonia, respiratory failure and contractures and died shortly after the neonatal period. The other presented at age two months with hypotonia and, following a period of clinical stability, died at age seven months from respiratory failure. Pat...
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ژورنال
عنوان ژورنال: Italian Journal of Pediatrics
سال: 2015
ISSN: 1824-7288
DOI: 10.1186/s13052-015-0124-8