Should Children from HCM Families be Screened Earlier?

A recent study by doctors at Toronto’s Hospital for Sick Children suggests that current screening guidelines for children from HCM families are inadequate and should instead recommend earlier screening exams. In the U.S., screening begins at age 12 pursuant to American College of Cardiology (ACC)/American Heart Association (AHA) guidelines.  In Europe, screening begins at age 10 pursuant to the European Society of Cardiology (ESC) guidelines.

In particular, the doctors found that out of 524 children who underwent
family screening prior to age 18, 9.9% showed evidence of HCM at first screening and only 1.1% of these children were symptomatic. An additional 28 (5.4%) children developed HCM over 3 years of follow-up, while 41% of major cardiovascular events [death, sudden cardiac death, or need for major interventions such as myectomy, ICD implantation, or heart transplant] occurred in children before the age of 10 year. Therefore, the doctors suggest that certain children appear to be at elevated risk and should be followed from earlier ages.

In particular, the study showed that children at greatest risk are:

  • male
  • have a pathogenic genetic mutations in MYH7 or MYBCP3
  • Have a family history of sudden cardiac death

A companion editorial by Dr. Christopher Semsarian of the University of Sydney in Australia and Dr. Carolyn Ho of the Brigham and Women’s Hospital in Boston points out that even under current guidelines, while screening is optional before age 12 (2011 ACC/AHA Guidelines) or age 10 (2014 ESC Guidelines), screening should still be considered if there is a particularly malignant family history, the child is an athlete or if there are symptoms or other indications of disease.

Semsarian and Ho note that even though screening tests (echocardiograms and EKGs) and non-invasive, there can be both monetary and emotional costs to the family resulting from screening. Hence, they recommend individualization in screening as opposed to a blanket rule; especially given that information relating to genetic status, gender and family history are easily available.  Each family situation should be assessed individually, taking into consideration their own set of unique risk factors and their tolerance for risk.

Editor’s Note:  HCMBeat recently highlighted this study from the U.K. which similarly concluded that the age of screening children in HCM families should be lowered.

 

 

 

When Do You Screen Your Kids For HCM?

A recent study published in Circulation suggests that clinical testing of kids who are first degree family members of HCM patients (i.e. siblings and children of those who have already been diagnosed with HCM) could be improved by starting testing at a younger age. And, genetic testing should further improve diagnosis and treatment for this group.

Continue reading “When Do You Screen Your Kids For HCM?”

ESC Risk Assessment Tool Comes Up Short in Study

A recent study published in the American Journal of Cardiology found that the standards propounded by the American College of Cardiology Foundation with the American Heart Association (ACC/AHA) were superior in predicting which patients would benefit from an implantable cardiac defibrillator (ICD) compared to the calculator set forth by the European Society of Cardiology (ESC).  According to the study, the use of the ESC tool will result in more high-risk patients going unprotected against sudden death.

Specifically, the study found that out of a group of 288 HCM patients, 14 who experienced aborted sudden cardiac arrest (or 43%) would not have qualified for an ICD under the ESC risk model compared to 7% of patients under the ACC/AHA guidelines.

The ACC/AHA guidelines are:

ICD Guidelines rev.

A companion editorial by Dr. Andreas S. Barth pointed out the shortcomings of both models, and reaffirmed the necessity for shared decision making between physicians and patients.  Dr. Barth also expressed hope that a more accurate predictive model will evolve, though he acknowledged the impossibility of designing a model which could predict future events with certainty.

 

Should Alcohol Septal Ablation Be Considered for Younger Patients?

Since the early 1960s, surgical septal reduction, also known as septal myectomy, has been used as a therapy for the treatment of obstructive hypertrophic cardiomyopathy. Pioneered at the National Institute of Health by cardiac surgeon Dr. Glenn Morrow, himself a HCM patient, septal myectomy has become a mainstay of the HCM treatment arsenal.

An alternative to septal myectomy, alcohol septal ablation (ASA), was first performed by Ulrich Sigwart in the United Kingdom at the Royal Brompton Hospital in London in 1994.

For many years, the indications for ASA procedures has been limited to older patients with obstructive HCM who were not otherwise healthy enough to undergo open heart surgery.  However, some doctors are now advocating to expand the indications for ASA to include symptomatic younger patients.

(For more information about myectomy and ASA,  click here and scroll to bottom of page).

Continue reading “Should Alcohol Septal Ablation Be Considered for Younger Patients?”

Comprehensive Overview of Worldwide Guidelines for Assessment and Treatment of HCM

If you are looking for a lengthy, thorough and analytical summary of the current guidelines worldwide for the assessment and treatment of HCM, then this article is a must.  Nature, the International Weekly Journal of Science, has put together a comprehensive article summarizing and synthesizing all of this information.  Just make sure you have some time to read and digest. This is not for those who like to get their soundbites on Twitter!