Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology
Key result
A heterozygous missense mutation (I79N) in the cardiac troponin T (TNNT2) gene was identified in all 9 affected family members, causing variable expression of RCM, HCM, and DCM.
Why the study?
Can a single sarcomeric protein gene mutation cause variable cardiomyopathy phenotypes (RCM, HCM, DCM) within the same family?
Population
A family with autosomal dominant heart disease variably expressed as restrictive cardiomyopathy…
Comparison
Genetic linkage analysis and sequencing of… vs Unaffected family members
Design
Case_series
Authors
Discussion
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Member takes
Implication
Supports comprehensive TNNT2 screening in mixed cardiomyopathy families; extends phenotypic variability evidence but remains hypothesis-generating.
Study Design
Type
Observational (n=15)
Structured PICO
Can a single sarcomeric protein gene mutation cause variable cardiomyopathy phenotypes (RCM, HCM, DCM) within the same family?
P
Population
A family with autosomal dominant heart disease variably expressed as restrictive cardiomyopathy (RCM), hypertrophic cardiomyopathy (HCM), and dilated cardiomyopathy (DCM) (n=15; 9 affected, 6 unaffected).
I
Intervention
Genetic linkage analysis and sequencing of sarcomeric genes
C
Comparator
Unaffected family members
O
Outcome
Identification of the molecular defect triggering divergent remodeling pathwayssurrogate
A single TNNT2 mutation can cause diverse cardiomyopathy phenotypes including RCM, HCM, and DCM within the same family, highlighting the need for comprehensive screening.
Cite This Study
Menon et al. (2008) conducted an observational in Familial cardiomyopathy (n=15). TNNT2 gene sequencing was evaluated on Segregation of polymorphic DNA markers for sarcomeric genes with disease phenotype. A heterozygous missense mutation (I79N) in the cardiac troponin T (TNNT2) gene was identified in all 9 affected family members, causing variable expression of RCM, HCM, and DCM.