Continuing Genetic Counseling Helpful for Silent HCM Gene Carriers

An article entitled Psychosocial Impact of a Positive Gene Result for Asymptomatic Relatives at Risk of Hypertrophic Cardiomyopathy was published in this week’s Journal for Genetic Counseling.

The article focuses on the motivation for and the impact of HCM genetic testing on family members.  The 32 participants in the study all encouraged family members to undergo genetic testing with the hope that the knowledge gained would benefit family members down the line.  However, the study found that the psychological impact of a positive result, in the absence of overt disease, was highly variable. Some gene positive individuals perceived that they had an absolute risk of developing HCM, with substantial detriment to their lifestyle choices, while others were not at all affected by the result and made no lifestyle changes.

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Lifestyle Influences HCM

According to this recent article published in the Journal of the American Heart Association, lifestyle choices can influence the development and/or progression of HCM.

In particular, the authors made the following recommendations:

  •  Exercise:  Recreational exercise should be encouraged in HCM patients.
    • This recommendation was largely based on the findings of the recent RESET-HCM study which found that moderate exercise, specifically tailored to each individual patient’s capacity, was beneficial to the patient’s general health and well being.  **For an in-depth look at the RESET-HCM study, check out this recent HCMBeat interview with the authors of the study, Drs. Sara Saberi and Sharlene Day.
  • Eating and Drinking: 
    • Patients should avoid large meals and should not exercise immediately after eating.  
    • Care should be taken to avoid becoming dehydrated.
    • Alcohol should only be consumed in moderation.
  • Healthy weight should be maintained.
  • Hypertension should be treated aggressively, though treatment may be challenging, especially in obstructive HCM.
  • Obstructive Sleep Apnea, which may exist in as many as 70% of HCM patients, should be treated to minimize potential for arrhythmia and to improve blood flow.