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.
Almost 5% of children included in this study were diagnosed with HCM at the time of their initial screening. The majority of these children (72%) had not yet reached the age of adolescence. Childhood diagnoses were not that unusual in this sample: a childhood diagnosis was made in 8% of families that were screened.
Hence, this article suggest that regular screenings of youth in HCM families should start before age 10. Note that current ACCF/AHA Guidelines followed in the U.S. (published in 2011 and set to be updated next year) make screening before age 12 optional. The 2014 ESC guidelines followed in Europe recommend screening of children in HCM families from age 10 onward, unless there is a particularly bad family history or other factors which might call for heightened scrutiny.
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:
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.
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?”
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!