A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy
Why the study?
Can a mutation in the cardiac troponin T gene cause familial hypertrophic cardiomyopathy without left ventricular hypertrophy?
Population
Affected individuals from two families with sudden deaths without an increase in left ventricular mass but…
Comparison
DNA screening of the cardiac troponin T gene on… vs 100 normal control samples.
Design
Case_series
Authors
Discussion
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Implication
May inform genetic evaluation in familial HCM without hypertrophy; leaves open validation of this novel variant.
Key Points
- To identify mutations in the cardiac troponin T gene associated with familial hypertrophic cardiomyopathy without left ventricular hypertrophy.
- Screened DNA from affected individuals for mutations in the cardiac troponin T gene on an exon by exon basis.
- Utilized polymerase chain reaction and direct sequencing for mutation detection.
- Confirmed mutations using restriction digest where appropriate.
- Identified a novel missense mutation in exon 9 resulting in arginine to leucine substitution at amino acid 94 in one family.
- This mutation was not present in 100 normal control samples.
- No mutations were found in the cardiac troponin T gene in the second family.
Structured PICO
Can a mutation in the cardiac troponin T gene cause familial hypertrophic cardiomyopathy without left ventricular hypertrophy?
P
Population
Affected individuals from two families with sudden deaths without an increase in left ventricular mass but with myocardial disarray suggesting hypertrophic cardiomyopathy, and 100 normal control samples.
I
Intervention
DNA screening of the cardiac troponin T gene on an exon by exon basis using polymerase chain reaction and direct sequencing.
C
Comparator
100 normal control samples.
O
Outcome
Identification of a mutation in the cardiac troponin T gene.surrogate
A mutation in the cardiac troponin T gene can cause familial hypertrophic cardiomyopathy with marked myocyte disarray and sudden death without clinical or macroscopic myocardial hypertrophy.
Cite This Study
Varnava et al. (1999) studied this question.