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.
The article suggests that the silent gene carriers who do best understand that while they carry the gene, they do not have the disease.
The authors advise genetic counselors to provide clear guidelines to gene positive patients regarding the future implications of their test results, including sports participation, lifestyle choices, family planning and impact on obtaining health and life insurance, along with detailed explanations of what HCM-related symptoms might look like, to be reported to their cardiologist.
It is important to recognize that the implications of having a positive HCM genetic status can and will change over time. For a HCM gene-carrying teenager, the primary concern may be whether they can join the track team. When the teen has matured into their 20s and 30s, the primary concern may be about marriage, procreation and child-bearing. Choice of career may be another concern that carries into middle age.
Ideally, a silent gene-carrier of HCM will have continued access to genetic counseling as they age, so they will be able to benefit from the most up-to-date research on HCM as they make lifestyle choices, when the issues are actually relevant and at the forefront of their lives.
For some quotes from one of the study’s authors, Dr. Carissa Bonner, click here.
A recent Canadian study found that children with HCM who carry a single mutation in the MYH7 gene or who have multiple HCM-causative genetic mutations are at increased risk of major adverse cardiac events when compared to children who carry a single mutation in another gene.
Of the 98 gene positive children in this study, those with a MYH7 mutation or those with multiple mutations were more likely to need a myectomy or an ICD or to experience a sudden cardiac arrest or a heart transplant when compared to children with other HCM causative mutations.
The article also suggests that current screening protocols which recommend clinical and genetic screening for HCM beginning at age 12 may be insufficient.
Dr. Iacopo Olivotto and a team of Italian researchers conducted a recent multi-center trial of the late sodium channel blocker ranolazine. The results of the trial showed that the drug failed to improve functional capacity, diastolic function, quality of life or brain natriuretic peptide (BNP) levels in 80 non-obstructive HCM patients.
Nevertheless, the researchers found that ranolazine is a very safe drug which may still be useful in the treatment of HCM by reducing arrhythmias and improving angina.
A companion editorial by Dr. Perry Elliot from the U.K. shed light on the difficulties inherent in designing clinical trials for HCM. Dr. Elliot noted that Restyle HCM was the third unsuccessful attempt at finding a new drug for HCM in the past year since a study on eleclazine, a drug with similar properties, and another for the drug perhexilene were both halted last year due to lack of efficacy.
Regardless, Dr. Elliot stated that increasing worldwide collaboration between HCM centers and expanding knowledge of certain sub-types of HCM treatable with specifically targeted therapies substantially improve the outlook for upcoming HCM drug trials.
In an editorial entitled “It’s My Heart, Why Not My Data” by Dr. Ira Nash in the January 2, 2018 edition of Circulation, Nash calls for device manufactures to allow patients to access the data generated by their implantable devices.
Nash, a cardiologist who himself has hypertrophic cardiomyopathy, calls the paternalistic practice of limiting data access to physicians anachronistic in a world which has become more and more focused on empowering patients to make collaborative decisions with their physician.
Dr. Nash explains in a postscript to the article that after being denied patient access to the data generated by his implantable loop recorder, he was ultimately granted access to his data as a physician. Most of us don’t have that ability. It would certainly be nice if patients were given the option to access their data simply because it is most important and relevant to them. It is the patient’s life, after all, which is at stake.
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.
Editor’s Note: This post originally appeared on the blog of Dr. Howard J. Luks. Dr. Luks wrote this blog entry in collaboration with HCM expert Dr. Srihari S. Naidu of New York’s Westchester Medical Center. You can find the original post here. You can find both Dr. Luks and Dr. Naidu on Twitter @hjluks and @SrihariNaiduMD.
Sudden cardiac death in young athletes continues with alarming frequency. The most common cause of sudden death in the young athlete is hypertrophic cardiomyopathy or HCM. Simply put, HCM means the heart muscle is bigger. Many of us believe that bigger muscle means stronger muscle. That is not always the case with the heart. The heart is a mechanical pump with a complex arrangement of chambers which store the blood. How that pump works is controlled by a very complex electrical system. Hypertrophic cardiomyopathy can interfere with one or both of these critical functions of the heart and lead to sudden cardiac death.
Continue reading “Sudden Cardiac Death in Young Athletes”
Editor’s Note: This is the 4th of 4 blog entries which summarizes the presentations given at the recent International HCM Summit VI in Boston. The presenter and their hospital affiliation are noted below, along with the topic of their presentation. When possible, you may access the presenters’ slides via hyperlink by clicking on the name. (Note that not all presenters made their slides available).
Continue reading “HIGHLIGHTS FROM THE INTERNATIONAL HCM SUMMIT, PART IV”
**Because so much HCM information was presented at the Summit, this is the third of multiple blog entries. Stay tuned to HCMBeat for more highlights from the HCM Summit. To see Part I of this series of highlights from the HCM Summit VI, click here and to see Part II of this series click here.**
The symposium was organized by long time HCM expert Dr. Barry Maron and his son, Dr. Martin Maron. Both Marons are now affiliated with Tufts Medical Center’s Hypertrophic Cardiomyopathy Center.
What follows are summaries from selected talks presented at the meeting. The presenter and their hospital affiliation are noted below, along with the topic of their presentation. When possible, you may access the presenters’ slides via hyperlink by clicking on the name. (Note that not all presenters made their slides available).
Continue reading “HIGHLIGHTS FROM THE INTERNATIONAL HCM SUMMIT VI, PART III”
According to a recent study by doctors at Tufts HCM Center in collaboration with colleagues in Italy, exercise testing is an invaluable tool in the assessment of hypertrophic cardiomyopathy patients.
In particular, two types of exercise testing are most valuable for HCM patients:
- Exercise Echocardiogram: These tests are valuable in determining whether a patient has obstruction. It provides a physiological way to measure whether or not a patient has an obstructed left ventricular outflow tract and hence, may potentially be in need of an invasive procedure to treat the obstruction. According to the article, approximately 1/3 of HCM patients have latent obstruction which may only be seen during or after exercise. This obstruction is not always apparent from their resting echocardiogram.
- Cardiopulmonary Exercise Testing: These tests help determine functional capacity and provide a quantifiable indicator of heart failure symptoms. This test can identify patients in need of more aggressive treatment options, or who are potentially in need of transplant. A particularly valuable piece of data from this test is the “VO2 max” score, which is a measure of the maximum rate of oxygen consumption during exercise which reflects the cardiorespiratory fitness level of a person.
*Editor’s note – Exercise testing was particularly informative and important in my own HCM treatment. It was only after my doctors performed an exercise echo that the extent of my obstruction became apparent. The symptoms I had been suffering appeared to be out of proportion to what was visualized on my resting echo. The exercise echo helped my doctors understand the cause of my symptoms which made the next step, in my case a myectomy, much clearer.
You can read my full story here .