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Chronologic electrocardiographic changes in patients with hypertrophic cardiomyopathy associated with cardiac

Masami Shimizu1, Hidekazu Ino, Masato Yamaguchi

  • 1Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Medicine, Graduate School of Medical Science, Kanazawa University, Kanazawa, Japan. shimizu@med.kanazawa-u.ac.jp

American Heart Journal
|February 9, 2002
PubMed

Insights

The K183del mutation in the cardiac troponin I gene can cause hypertrophic cardiomyopathy (HCM). Early identification of abnormal Q waves in teenage carriers is crucial for preventing sudden cardiac death.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Genetic Cardiology

Background:

  • Hypertrophic cardiomyopathy (HCM) is a genetic heart condition.
  • The K183del mutation in the cardiac troponin I (cTnI) gene is a known cause of HCM.
  • The precise clinical presentation of the K183del mutation remains unclear.

Purpose of the Study:

  • To establish the phenotypic expression of the K183del mutation in the cTnI gene.
  • To identify early indicators of HCM in mutation carriers.
  • To inform strategies for preventing sudden cardiac death in affected families.

Main Methods:

  • Analysis of 10 probands with HCM and K183del mutation.
  • Inclusion of family members, totaling 80 subjects (47 carriers, 33 non-carriers).
  • Evaluation of electrocardiogram (ECG) and echocardiographic findings in relation to age and carrier status.

Main Results:

  • ECG abnormalities appeared in early teenage years, preceding echocardiographic changes in carriers.
  • Abnormal Q waves were the earliest and most frequent ECG abnormality.
  • Sudden cardiac death occurred in a 14-year-old carrier, highlighting the risk.

Conclusions:

  • Abnormal Q waves in specific ECG leads (II, III, aVF, V5, V6) are the initial phenotypic manifestation of K183del-associated HCM.
  • Genetic diagnosis before age 10 and vigilant monitoring for Q wave development are recommended for family members.
  • Early intervention may be key to preventing sudden death in families with this mutation.
Abstract

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