Phenotype #0000165048

Individual ID 00216596
Associated disease EDMD
Phenotype details heart failure NYHA class 3ñ4, LV dilation/hypokinesia, LVEF 25%, atrial dilation L/R, chronic atrial flutter; 43y/44y-stroke; received heart transplant; 41y-pacemaker (VVI)
Diagnosis/Initial Emery-Dreifuss muscular dystrophy
Inheritance Isolated (sporadic)
Diagnosis/Definite EDMD-2
Age/Examination -
Age/Onset 36y
Phenotype/Onset atrioventricular block, dilated cardiomyopathy
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2010-03-06 13:42:31 +01:00 (CET)
Date last edited 2012-03-09 19:17:22 +01:00 (CET)

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