Restyle HCM Study: Ranolazine Doesn’t Improve HOCM Heart Failure Symptoms

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.

Doctor with HCM Calls for Patient Access to Medical Device Data

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.

Sudden Cardiac Death in Young Athletes

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”

HIGHLIGHTS FROM THE INTERNATIONAL HCM SUMMIT, PART IV

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).

To see Part I of this series of highlights from the HCM Summit VI, click here, to see Part II of this series click here, and to see part III of this series. click here.

Continue reading “HIGHLIGHTS FROM THE INTERNATIONAL HCM SUMMIT, PART IV”

HIGHLIGHTS FROM THE INTERNATIONAL HCM SUMMIT VI, PART III

**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”

HIGHLIGHTS FROM THE INTERNATIONAL HCM SUMMIT VI, PART II

**Because so much HCM information was presented at the Summit, this is the second 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.**

The 6th International HCM Summit was held October 27, 28 and 29th in Boston, Massachusetts.  This symposium brings together HCM professionals from around the world who are there to learn about and discuss the latest developments in the treatment of HCM.

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 II”

HIGHLIGHTS FROM THE INTERNATIONAL HCM SUMMIT VI, PART I

**Because so much HCM information was presented at the Summit, this will be the first of multiple blog entries.  Stay tuned to HCMBeat for more highlights from the HCM Summit.  You will find Part II of this series by clicking here.**

The 6th International HCM Summit was held October 27, 28 and 29th in Boston, Massachusetts.  This symposium brings together HCM professionals from around the world who are there to learn about and discuss the latest developments in the treatment of HCM.

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 I”

Guest Blogger – When a Seizure is not a Seizure – by Wendy Borsari

It’s strange to think that a chaotic arrhythmia in the heart might actually appear to be a seizure caused by something that has gone haywire in the brain, but with sudden cardiac arrest (SCA) this can sometimes happen.

This is the true story of what happened to my daughter.

Continue reading “Guest Blogger – When a Seizure is not a Seizure – by Wendy Borsari”

CRISPR Eliminates HCM Gene !

Scientists, in a follow up to three earlier, less successful, Chinese experiments, have for the first time used a recently developed gene editing process known as “CRISPR” to remove a genetic defect from a human embryo.  The specific defect that the scientists targeted was a mutation in MYBPC3, a common genetic cause of hypertrophic cardiomyopathy (HCM).

What Happened in the Study?

The study authors consisted of a multi-national team of geneticists, cardiologists, fertility experts and embryologists.  Led by Dr. Shoukhrat Mitalipov of Oregon Health Sciences University, in collaboration with researchers at the Salk Institute in La Jolla, CA, China and South Korea, the researchers were able to largely remove the HCM gene MYBPC3 from very early stage human embryos.

Their research involved using eggs from 12 healthy female donors, and sperm from a male HCM patient with the MYBPC3 gene.  When gene-editing components were introduced to the egg along with the sperm, prior to fertilization of the egg, approximately 3/4 of the embryos repaired themselves using the DNA blueprint provided by the normal, non-mutated copy of the gene from the unaffected female.  This was somewhat surprising to researchers, who had theorized that cells would replicate using a blueprint from the repaired paternal gene – not the healthy gene of the mother.

Ultimately, genes were corrected in 42 of 58 embryos, constituting 72.4% of the total, a higher proportion than expected, and far more than any correction shown in previous experiments.

Implications for the Future

This technique is still far from general usage and will require further study and refinement.  And, currently it is not legal in the United States since the Food & Drug Administration currently prohibits medical gene editing which would impact future generations.

However, it would be possible for this technique to be used alongside current technology to assist families with genetic diseases like HCM.  If used in conjunction with pre-implantation genetic testing and in-vitro fertilization (PGD), the technique could repair the large proportion of embryos (roughly 50%) which must be discarded due to genetic defectiveness.

While there are critics who say that this technology will lead to “designer babies” and that it creates troubling ethical issues for society, most HCM patients believe that it provides a ray of hope, so that hopefully one day, in the not-too-distant-future, our children and grandchildren will be free of the affliction that has permeated our lives, as well as the lives of our siblings, our parents, our aunts and uncles, our cousins, our grandparents, and our great-grandparents.

Story Links:

As this story was reported by all major news sources, links to many of the articles can be found below.

Nature

The Atlantic

New York Times

Washington Post.

NPR

LA Times

Los Angeles Times – Q&A video clip with lead study author Shourkhrat Mitalipov

The Guardian

USA Today

MIT Technology Review

Gizmodo

Boston Herald

LA Times article regarding ethics -response to first article

NOTE THAT APPROXIMATELY A MONTH AFTER THE PUBLICATION OF THIS ARTICLE, THE RESULTS HAVE BEEN CALLED INTO QUESTION BY OTHER SCIENTISTS.

See this article in MIT Technology Review, this article in Science Magazinethis article in Nature, and this article in The Scientist, all of which cite this article in BioRxiv which poses alternative theories for the results claimed by the original paper.

A Conversation with Duke’s Dr. Andrew Wang – Creator of the HCM Care App

A few months ago, HCMBeat featured this post about HCM Care, a new educational website and downloadable app for HCM patients and their families, featuring essential information for patients trying to understand their HCM diagnosis, explained in written and video formats.  HCM Care also provides useful information about genetic testing and family screening for their family members.

myokardia_mockup (003)

Dr. Andrew Wang of Duke University’s HCM Clinic in Durham, N.C., developed HCM Care along with 8 other HCM specialists from 6 hospitals, including Mayo Clinic, Cleveland Clinic and Tufts Medical Center.  Funding and support for the project were provided by MyoKardia, a San Francisco biotech company engaged in the development of a precision medicine approach to the treatment of genetic cardiomyopathies. Their HCM medication, MYK-461, is currently in clinical trials in the U.S.

Cynthia Burstein Waldman of HCM Beat had the opportunity via email to talk with Dr. Wang about his HCM practice and his involvement with the development of HCM Care.  What follows is their written correspondence, edited for clarity:

Continue reading “A Conversation with Duke’s Dr. Andrew Wang – Creator of the HCM Care App”