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April 2, 2012Annals of MedicineOpen Access

Two founder mutations in the alpha-tropomyosin and the cardiac myosin-binding protein C genes are common causes of hypertrophic cardiomyopathy in the Finnish population

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Key result

The TPM1-D175N and MYBPC3-Q1061X founder mutations were found in 6.5% and 11.4% of Finnish patients with hypertrophic cardiomyopathy, respectively, accounting for 17.9% of cases altogether.

Why the study?

What is the prevalence of TPM1-D175N and MYBPC3-Q1061X founder mutations in Finnish patients with hypertrophic cardiomyopathy?

Population

306 unrelated Finnish patients with hypertrophic cardiomyopathy from regions covering a population of…

Design

Cross-sectional

Authors

PJPertti JääskeläinenKuopio University HospitalTHTiina HeliöHeart Failure & TransplantKAKatriina Aalto‐SetäläElectrophysiology

Discussion

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Implication

May guide Finland-specific HCM genetic testing; leaves open prognostic and therapeutic implications.

Study Design

Type

Cross-Sectional (n=306)

Multicenter

Yes

Structured PICO

What is the prevalence of TPM1-D175N and MYBPC3-Q1061X founder mutations in Finnish patients with hypertrophic cardiomyopathy?

P
Population
306 unrelated Finnish patients with hypertrophic cardiomyopathy screened for two founder mutations.
E
Exposure
Genetic screening for TPM1-D175N and MYBPC3-Q1061X mutations
O
Outcome
Prevalence of TPM1-D175N and MYBPC3-Q1061X mutationssurrogate

Two founder mutations account for nearly 18% of HCM cases in Finland, suggesting routine genetic screening for these variants is warranted in this population.

Cite This Study

Jääskeläinen et al. (2012) conducted a cross-sectional in Hypertrophic cardiomyopathy (n=306). TPM1-D175N and MYBPC3-Q1061X founder mutations was evaluated on Prevalence of TPM1-D175N and MYBPC3-Q1061X mutations. The TPM1-D175N and MYBPC3-Q1061X founder mutations were found in 6.5% and 11.4% of Finnish patients with hypertrophic cardiomyopathy, respectively, accounting for 17.9% of cases altogether.

synapsesocial.com/papers/6a88332ffc0635f4eccf0b8ahttps://doi.org/10.3109/07853890.2012.671534

Topics

Hypertrophic cardiomyopathy
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Genetics of hypertrophic cardiomyopathy in eastern Finland: few founder mutations with benign or intermediary phenotypes2004 · 60 citations
  2. 2Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives2008 · 138 citations
  3. 3The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands2003 · 152 citations
  4. 4Cardiac Myosin-Binding Protein C Mutations and Hypertrophic Cardiomyopathy2009 · 335 citations
  5. 5A Mutant Tropomyosin That Causes Hypertrophic Cardiomyopathy Is Expressed In Vivo and Associated With an Increased Calcium Sensitivity1998 · 169 citations