Linkage/Locus Report


Title: Linkage of familial dilated cardiomyopathy to chromosome 9.
Authors: Krajinovic M, Pinamonti B, Sinagra G, Vatta M, Severini GM, Milasin J, Falaschi A, Camerini F, Giacca M, and Mestroni L
Journal: Am J Hum Genet, 1995;57:846-852.
International Centre for Genetic Engineering and Biotechnology, Ospedale Maggiore, Trieste, Italy.
PubMed Link: 7573045
Citation Type: phenotype/genotype (clinical and genetic linkage data)
Study Design: family linkage study
Study Measurements: Study measurements:
Summary: In October, 1995 Luisa Mestroni and her group in Trieste reported a large Italian family with autosomal dominant FDC (and subsequently two smaller Italian families) identified clinically by left ventricular dimensions and function (20).  A diagnosis of dilated cardiomyopathy was made by the presence of both (1) an ejection fraction <0.45 by echocardiographic or radionuclide examination, and/or an M-mode echo fractional shortening less than 30%, and (2) a left ventricular end diastolic dimension (LVEDD) > 2.7 cm/m2, excluding any known cause of myocardial disease. Eighty family members were identified in 1987, and 13 were considered to be affected. Linkage was established for chromosome 9q13-q22 with a maximum multipoint lod score of 4.2, with the locus placed between D9S153 and D9S152.  The investigators observed concordance of genetic linkage data when retrospectively compared to data from subjects with a normal ejection fraction but enlarged left ventricular end-diastolic dimensions by echocardiography.
Comment: This was one of the earliest linkage reports of DCM from a carefully characterized kindred.