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Scientific letters
Low prevalence of cardiac troponin T mutations in a Greek hypertrophic cardiomyopathy cohort
  1. A Miliou1,
  2. A Anastasakis1,
  3. L G D’Cruz2,†,
  4. A Theopistou1,
  5. A Rigopoulos1,*,
  6. I Rizos1,*,
  7. S Stamatelopoulos3,
  8. P Toutouzas1,
  9. C Stefanadis1
  1. 1Centre for the Study of Inherited Cardiovascular Diseases, Cardiology Department, Hippokrateion Hospital, Medical School, University of Athens, Athens, Greece
  2. 2Department of Cardiovascular Medicine, St George’s Hospital, University of London, London, UK
  3. 3Department of Cardiology, Errikos Dinan Hospital, Athens, Greece
  1. Correspondence to:
    Mrs Antigoni Miliou
    4 Trias Street, N Erithrea, 146 71, Athens, Greece; a_miliouhotmail.com

https://doi.org/10.1136/hrt.2003.029819

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    Since the initial description of hypertrophic cardiomyopathy (HCM), sudden cardiac death (SCD) occurring in young and usually asymptomatic patients has received substantial attention in the literature as the most devastating consequence of the disease. Present data from non-referral centres show a benign course of the disease with a subgroup of high risk patients.1

    Molecular genetics have reconfirmed familial HCM as being an autosomal dominant disease with hundreds of mutations in 10 genes encoding sarcomeric proteins.1 Cardiac troponin T (TNNT2) gene mutations have been reported to be consistently associated with a malignant clinical prognosis and the prevalence has been reported to be in the region of 15–20%.2 Recent epidemiological studies in unselected HCM populations lower this percentage dramatically.3 Clinical expression and prognosis of HCM in Greece seems to have a benign course and a moderate morphologic expression.4

    So far, the prevalence and type of mutations for any HCM associated gene has not been reported in Greece. Screening the Greek HCM probands for TNNT2 mutations is the first step to assess the occurrence and overall prevalence of the supposed more aggressive and malignant subset of HCM mutations.

    METHODS

    One hundred and forty three unrelated families of Greek origin (118 men, mean age 47±16 years) participated. The disease was familial in 81 cases (56.6%) and 22 …

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    Footnotes

    • ↵* Now at Department of Cardiology, Attikon Hospital, Athens, Greece

    • ↵† Also at Division of Protein Structure, MRC National Institute of Medical Research, Mill Hill, London, UK