Spotlight on Virginia HCM Specialist

MD Magazine has a nice feature about Dr. Robert Battle of the University of Virginia’s HCM Center. Read it here.

HCM Researchers Put their Heads Together to Improve Lives of HCM Patients

A recent paper published in the journal Circulation looked at the clinical course of approximately 4,600 HCM patients over the course of more than 24,000 clinical years, which the paper describes as the largest comprehensive cohort of HCM patients ever studied.

This study examined patients from eight high volume HCM centers which aggregated their institutional data into a database known as the Sarcomere Human Cardiomyopathy Registry (or the acronym the “SHaRe” for short). The results of the study showed that, in general, HCM patients are at substantially elevated risk for atrial fibrillation and heart failure, and have significantly higher mortality rates than that of the general U.S. population.

The SHaRe Registry centers that participated in the study are:

  • Brigham and Women’s Hospital, Boston
  • University of Michigan Medical Center
  • Stanford University Medical Center
  • Boston Children’s Hospital
  • Yale-New Haven Hospital
  • Careggi University Hospital, Florence, Italy
  • Erasmus University Medical Center, Netherlands
  • Laboratory of Genetics and Molecular Cardiology, Sao Paulo, Brazil

Working together, these centers, led by Dr. Carolyn Ho, M.D. of Boston’s Brigham and Women’s Hospital, made some significant findings.

Patients with HCM Genetic Mutations Fare Worse HCM patients with a known genetic mutation were diagnosed with clinical disease at a younger age (37.5 years, compared to 51.1 years for patients without a mutation) and were more than twice as likely to experience HCM-related complications and early death than HCM patients who had a non-genetic form of HCM.  Patients with more than one mutation and those who carried a MYH7 mutation were found to have a higher risk of HCM related complications than those with single mutations or those with a MYBPC3 mutation.

HCM Burden Increases Over Time:  The burden of disease and complications increased progressively over time for HCM patients, with most HCM-related complications occurring later in life between the ages of 50-70 years.  In particular, the researchers found that patients who were less than 40 years old at diagnosis had a 77% chance of having an adverse incident such as a cardiac arrest, heart failure, atrial fibrillation, stroke, or death by the time they reached age 60. The most common complications were heart failure and atrial fibrillation.  In contrast, patients diagnosed with HCM after the age of 60 years of age had only a 32% cumulative incidence of such complications by age 70 years.

HCM Mortality is Significant:  Mortality among HCM patients was found to be significantly higher than that of the general U.S. Population. In fact, among young HCM patients ages 20 – 29, mortality was found to be four times higher than that of their healthy counterparts.

The lead author of the paper, Dr. Ho, suggests two major takeaways from this research:

1. A young age of diagnosis and the presence (or absence) of sarcomere mutation(s) should be taken into consideration when forming treatment plans.

2.  Given that the majority of HCM complications occur later in life, there is need for long-term care and follow-up of HCM patients, as well as for the development of new therapies that prevent long term complications such as heart failure and atrial fibrillation.

 

Broad Survey of HCM by Dr. Barry J. Maron

The August 16, 2018 online version of the New England Journal of Medicine contains an broad overview of the current state of clinical knowledge and treatment of HCM written by HCM expert Dr. Barry Maron.  It is entitled “Clinical Course and Management of Hypertrophic Cardiomyopathy.” 

Dr. Maron discusses the many advances that have been made in the diagnosis and treatment of hypertrophic cardiomyopathy since it was first described 55 years ago, noting that life expectancy and qualify of life have dramatically improved in this period of time.  According to Dr. Maron, the contemporary management paradigm for HCM have reduced “the risk of adverse cardiovascular events and death to levels below the levels among patients with other cardiac or non-cardiac disorders.”

 

Cardiac MRI Helps Assess Sudden Death Risk

A recent study by doctors at the Cleveland Clinic suggests that the presence of late gadolinium enhancement  (LGE) should be added to the various risk factors currently used to assess patients who are at low or intermediate risk of sudden death.  The presence and balancing of these risk factors are used by patients and doctors to determine the need for implantable cardiac defibrillators (ICDs).   LGE is an indication of cardiac scar tissue and can be seen on cardiac MRI scans.  This study recommended that LGE comprising a total of 15% or more of left ventricular mass be used as an additional risk factor. The study found that this indicator worked equally well when applied to both obstructed and non-obstructive HCM patients.

Interestingly, an earlier but recent study published by Cleveland Clinic doctors found that the risk factors currently in use to determine the need for an ICD fall short as applied to patients with the obstructive form of HCM.

Risk factors in common use today have been propounded by the American College of CardiologyAmerican Heart Association (ACC/AHA) in the U.S., while a different set of guideline and a mathematical risk calculator was promulgated more recently in Europe by the European Society of Cardiology (ESC).  You can find more about the ACC/AHA and ESC guidelines here.

A second and related finding of this study by the Cleveland Clinic, known for its large HCM program and high volume of myectomies, was that patients who undego  myectomy appear to experience a protective effect from their surgeries.  Even when found to have 25% or more LGE, patients in this study who previously underwent myectomy experienced a lower than expected rate of adverse events.

SCD Risk Assessment Guidelines in HCM: Impact of Myectomy & AFib

A recent study by doctors at the Cleveland Clinic found that current guidelines used to assess risk of sudden cardiac death (SCD) in HCM fall short when applied to the population of patients with the obstructive form of HCM (HOCM).

The study looked at both the European Society of Cardiology (ESC) and American College of Cardiology (ACC)/American Heart Association (AHA) guidelines, and found that both sets of guidelines came up short in predicting SCD.  In particular, the study found that patients who had previously undergone myectomy had a reduced risk of SCD that is not accounted for in existing risk models.

Conversely, the study found that patients with atrial fibrillation had a higher risk of SCD, which is also not reflected in the existing risk models.

A companion editorial by Dr. Harzell Schaff of the Mayo Clinic explains the likely reasons for the myectomy findings, while a second accompanying editorial by Dr. John Jefferies of Cincinnatti Children’s Hospital (who has recently accepted an appointment at the U. of Tennessee Health Science Center in Memphis) maintains that the ESC and ACC/AHA guidelines should be changed to reflect the lower SCD risk following myectomy.

Click here for previous coverage of the ESC and ACC/AHA guidelines.  If you would like to try out the ESC Risk Calculator for yourself, click here.

 

 

New Educational Resource for HCM Patients

As of July, 2018 the HCMCare.com website and app have been updated to include even more information for HCM patients. Check it out.

HCM Beat

NOTE:  As of July, 2018 the website and app have been updated to include even more information for HCM patients. Check it out.

Have you heard that there is a new online educational resource about HCM? Check out HCM Care.com, an informational website about HCM developed by MyoKardia in partnership with Duke Clinical Research Institute.

This website features general information about HCM including diagnosis, testing, treatment, lifestyle, genetics and family screening.  It is also available as a FREE downloadable app for both Apple and Android operating systems.

Click here to find on iTunes and Google Play.
HCMCare features video clips from the following physicians:

  • Dr. James Daubert from Duke University Medical Center
  • Dr. Milind Desai from Cleveland Clinic
  • Dr. Carolyn Ho from Brigham and Women’s Hospital
  • Dr. Martin Maron from Tufts Medical Center
  • Dr. Andrew Wang from Duke University Medical Center

Be sure to check out HCMCare, as…

View original post 14 more words

Is Whole Genome Sequencing a Better Method for HCM Genetic Testing?

According to this study published recently in the Journal of the American College of Cardiology, whole genome testing may sometimes be used to identify the gene(s) responsible for HCM when targeted genetic testing (the type used in the clinical setting) has been inconclusive.

In particular, the study found the responsible gene(s) in 9 of 26 families (20%) in whom targeted testing had previously been inconclusive.

When used as the initial form of genetic testing, whole genome sequencing identified the responsible HCM gene in 5 of 12 families, or 42%.

According to this article in Wired U.K., a whole genome sequencing test costs about $600 and takes just a few weeks to complete.  On the other had, the cost of data storage necessary to store such a large amount of collective data is, according to this article, prohibitively high.

If not for everyone, perhaps whole genome sequencing could be used in families where traditional genetic testing has proven inconclusive.  Time will tell.

CNN Chief Jeff Zucker Set for HCM Surgery

According to several news reports, CNN chief and former NBCUniversal head Jeff Zucker is taking six weeks off to undergo elective surgery to treat his hypertrophic cardiomyopathy.  Specific details about the surgery were not revealed.  New York Magazine reported that in 2010 he visited Minneapolis Heart Institute where he was told he needed an implantable defibrillator.

The most common surgery for the treatment of HCM symptoms is a septal myectomy.

See these stories for more info:

Wall Street Journal

Atlanta Journal Constitution

Los Angeles Times

Deadline

Variety

Hollywood Reporter

HCMBeat wishes Mr. Zucker the best of luck during his surgery and recovery.

Here is a link to some resources we have collected for patients who are going through myectomy:  Resources for Patients About Myectomy

The Business of HCM

This article in Cardiovascular Business discusses the financial benefit to a hospital that adds a center for the treatment of HCM.  In particular, hospitals can expect to see higher volumes in the areas of echocardiograms, cardiac MRI, and electrophysiology.

Is Direct-to-Consumer Genetic Testing Helpful or Harmful to HCM Families?

This recent article published in Nature discusses several real-life scenarios in which patients were mistakenly diagnosed with serious genetic cardiac conditions, including HCM, as a result of erroneous direct-to-consumer genetic testing.

These misdiagnoses directly resulted from misinterpretation of raw data by third party interpretation services that were working with raw data provided to them by direct-to-consumer genetic testing companies.

After medical testing, none of the patients discussed in the highlighted cases were ultimately found to have disease or be in need of medical intervention, though all underwent unnecessary medical testing and/or invasive procedures. Some even made radical lifestyle changes as a result of the erroneous genetic information.

This article demonstrates the unreliability of direct-to-consumer genetic testing, which has the potential to cause great upheaval to both patients and the medical system.

As always, patients seeking genetic testing should do their homework. Genetic testing for heart conditions is best when done by the experts – cardiac genetic counselors!