Emergence of gene mutation carriers and the expanding disease spectrum of hypertrophic cardiomyopathy
Key result
An 'echo/TDI' score integrating tissue Doppler imaging and echocardiographic parameters identified affected hypertrophic cardiomyopathy mutation carriers with 67% sensitivity and 96% specificity.
Population
Gene-positive, phenotype-negative mutation carriers in familial hypertrophic cardiomyopathy families.
Design
Editorial
Authors
Discussion
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Implication
May aid preclinical HCM carrier detection; leaves open need for longitudinal outcome data before clinical use.
Structured PICO
P
Population
Gene-positive, phenotype-negative ('preclinical') mutation carriers in familial hypertrophic cardiomyopathy families.
E
Exposure
Combined echocardiography and tissue Doppler imaging (TDI) score
O
Outcome
Identification of affected mutation carriers (MYH7, MYBPC3, and TNNT2 genes)surrogate
Combined echocardiography and tissue Doppler imaging shows promise in identifying preclinical HCM mutation carriers, though long-term longitudinal studies are needed to guide clinical management.
Limitations
- Non-invasive clinical approaches cannot supplant genetic testing
- Unknown whether findings predict eventual development of LV wall thickening
- Lack of long-term follow-up data
- Limited longitudinal follow-up available in this subset
Cite This Study
Maron et al. (2010) conducted an editorial in Hypertrophic cardiomyopathy. Combined echocardiography and tissue Doppler imaging (echo/TDI score) was evaluated on Identification of affected mutation carriers. An 'echo/TDI' score integrating tissue Doppler imaging and echocardiographic parameters identified affected hypertrophic cardiomyopathy mutation carriers with 67% sensitivity and 96% specificity.