| 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. |
