Congenital myopathy associated with the triadin knockout syndrome

Homozygous/Compound Heterozygous Triadin Mutations Associated With Autosomal-Recessive Long-QT Syndrome and Pediatric Sudden Cardiac Arrest: Elucidation of the Triadin Knockout Syndrome.

BACKGROUND Long-QT syndrome (LQTS) may result in syncope, seizures, or sudden cardiac arrest. Although 16 LQTS-susceptibility genes have been discovered, 20% to 25% of LQTS remains genetically elusive. METHODS AND RESULTS We performed whole-exome sequencing child-parent trio analysis followed by recessive and sporadic inheritance modeling and disease-network candidate analysis gene ranking to...

congenital pseudohorseshoe lung associated with scimitar syndrome

abstract horseshoe lung is a congenital pulmonary malformation that is usually associated with scimitar syndrome. this malformation consists of fusion of both pulmonary lobes from the posterobasal segments. the fusion appears in the retrocardiac area, in front of the esophagus and thoracic aorta. pleural separation of pulmonary lobes distinguishes pseudohorseshoe appearance from a true horsesho...

Congenital myopathy with cytoplasmic bodies.

Since early infancy, a 15-year-old girl had suffered from an apparently static neuromuscular disorder that chiefly afflicted her proximal muscles but did not spare her distal ones. Her CPK values had repeatedly been mildly elevated and her electromyogram had been considered "myopathic". There were no similar neuromuscular disorders in the family. Quadriceps muscle biopsy showed a type I myofibe...

Is Turner's syndrome associated with cardiomyopathy and myopathy?

Severe hydrocephalus associated with congenital varicella syndrome.

Congenital varicella syndrome refers to the spectrum of fetal anomalies associated with maternal varicella zoster virus (VZV) infection during the first trimester of pregnancy. The syndrome is rare and the risk to the fetus uncertain. We describe an unusual case of congenital varicella syndrome in which hydrocephalus was the main consequence and likely represented VZV reactivation in utero.