Cardiac troponin T lysine 210 deletion in a family with dilated cardiomyopathy.
BACKGROUND
The gene for cardiac troponin T (TNNT2) is 1 of 7 autosomal disease genes implicated in familial dilated cardiomyopathy (FDC). Identical deletions in exon 13 of TNNT2 have been reported in 2 families with FDC, but little is known about the frequency of this deletion among patients with FDC and idiopathic dilated cardiomyopathy (IDC) and the associated phenotype.


RESULTS
Exon 13 of the cardiac troponin T gene was sequenced in 61 subjects with FDC and 53 subjects with IDC. A 3-base pair deletion (DeltaLys210), identified in 1 family with at least 7 clinically affected family members, is reported. Age of disease onset and disease severity varied widely among affected individuals; phenotypic findings included dilated cardiomyopathy, sudden cardiac death, conduction system disease including atrial fibrillation and atrioventricular block, and heart failure. Sudden-onset, rapidly progressive disease was observed in younger individuals.


CONCLUSIONS
Cardiac troponin T exon 13 lysine deletions can cause FDC of varying severity and are an important but uncommon cause of FDC.
Hanson
Emily L
EL
Department of Medicine, Oregon Health Sciences University, Portland, OR 97201, USA.
Jakobs
Petra M
PM
Keegan
Hugh
H
Coates
Kelly
K
Bousman
Sylvia
S
Dienel
Nicholas H
NH
Litt
Michael
M
Hershberger
Ray E
RE
D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000235:genetics; D005091:Exons; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008239:Lysine / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D020107:Troponin T / Q000235:genetics*
D020107:Troponin T; D008239:Lysine