Paper Information

Journal:   IRANIAN JOURNAL OF PEDIATRICS   JUNE 2016 , Volume 26 , Number 3; Page(s) 0 To 0.
 
Paper: 

LETTER: PREVENT SUDDEN DEATH IN CARVAJAL SYNDROME WITH LEFT VENTRICULAR HYPERTRABECULATION/NONCOMPACTION

 
 
Author(s):  STOLLBERGER CLAUDIA*, FINSTERER JOSEF
 
* RUDOLFSTIFTUNG HOSPITAL, JUCHGASSE, VIENNA, AUSTRIA
 
Abstract: 

Dear Editor, With interest we read the article by Mohammadpour Ahranjani et al. about a nine-year-old girl with heart failure due to systolic dysfunction and left ventricular hypertrabeculation/ noncompaction (LVHT) in whom the association with skin abnormalities led to the diagnosis of Caravajal syndrome (CS) (1). We have the following questions and concerns: mutations in the desmoplakin genes have been identified insomepatients with CS. However, there are also CS-cases in whom no mutations of the desmoplakin gene have been found thus indicating genetic heterogeneity (2).
It would be interesting to know if genetic studies were carried out in the presented patient

 
Keyword(s): CARVAJAL SYNDROME, LEFT VENTRICULAR HYPERTRABECULATION
 
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