August 1, 2006Journal of Cardiovascular Medicine
A molecular screening strategy based on β-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy
Key result
Comprehensive molecular screening of MYBPC3, MYH7, and TNNT2 genes identified disease-causing mutations in 57% of Italian patients with hypertrophic cardiomyopathy.
Population
88 unrelated Italian patients with hypertrophic cardiomyopathy (HCM) from two Italian centres
Design
Cohort
Authors
Discussion
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Implication
May inform targeted HCM genetic testing; leaves open generalizability beyond Italian cohorts.
Study Design
Type
Observational (n=88)
Multicenter
Yes
Structured PICO
P
Population
88 unrelated Italian patients with hypertrophic cardiomyopathy (HCM) from two Italian centres
I
Intervention
Comprehensive molecular screening of MYBPC3, MYH7 and TNNT2 genes by denaturing high-performance liquid chromatography and automatic sequencing
O
Outcome
Prevalence of mutations in MYBPC3, MYH7 and TNNT2 genes
Comprehensive screening of three major sarcomeric genes (MYBPC3, MYH7, TNNT2) provided a genetic diagnosis in 57% of Italian patients with hypertrophic cardiomyopathy.
Cite This Study
Girolami et al. (2006) conducted an observational in Hypertrophic cardiomyopathy (HCM) (n=88). Molecular screening of MYBPC3, MYH7 and TNNT2 genes was evaluated on Identification of mutations in MYBPC3, MYH7 and TNNT2 genes. Comprehensive molecular screening of MYBPC3, MYH7, and TNNT2 genes identified disease-causing mutations in 57% of Italian patients with hypertrophic cardiomyopathy.