Linkage/Locus Report


Title: Investigation of a family with autosomal dominant dilated cardiomyopathy defines a novel locus on chromosome 2q14-q22.
Authors: Jung M, Poepping I, Perrot A, Ellmer A, Wienker T, Dietz R, Reis A, and Osterziel K.
Journal: Am J Hum Genet, 1999;65:1068-1077.
Mikrosatellitenzentrum, Max-Delbruck-Centrum, Berlin, Germany.
PubMed Link: 10486326
Citation Type: phenotype/genotype (clinical and genetic linkage data).
Study Design: family linkage study
Study Measurements:
Summary: 25 subjects from a German family underwent cardiovascular screening; they exhibited autosomal dominant conduction system disease in adolescence and progressed in some subjects in later years to dilated cardiomyopathy. Initial clinical manifestations were sinus or atrioventricular (AV) node dysfunction, manifested as bradycardia, tachycardia, or supraventricular tachycardia (SVT), with first, second or third degree AV block; bundle branch blocks were also identified. Left ventricular systolic dysfunction was minimal; however, malignant ventricular tachyarrhythmias occurred which led to implantation of implantable cardiac defibrillators (ICD’s) in 4 of 5 affected living subjects. Cardiac dilatation and systolic dysfunction occurred late in this family. A whole genome search revealed linkage on chromosome 2 (q14-22), in a 11 cM interval between markers D2S2224 and D2S112 with a peak lod score of 3.73 at D2S2339.