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.

 

 

 

Australian Summary of Standards for HCM Diagnosis and Management

A summary of current standards for the proper diagnosis and management of patients with hypertrophic cardiomyopathy was recently published by Australian HCM doctor Chris Semsarian in the journal Heart, Lung and Circulation.

Could it be Non-Genetic HCM?

When a patient is the only person in the family ever diagnosed with HCM, s/he will often wonder whether their disease is, in fact, genetic.  S/he will also wonder whether it will be necessary for all first degree relatives to undergo serial screenings for the rest of their lives.

In answer to this concern, Australian researchers have recently identified a subset of HCM patients who appear to have a non-familial form of the disease and whose relatives may be candidates for less stringent screening protocols.

The study, just published in Circulation: Cardiovascular Genetics by Dr. Jodie Ingles and Dr. Chris Semsarian, found that this group, having neither genetic mutation associated with HCM nor family history of HCM, comprises approximately 40% of all HCM patients. Non-familial HCM patients are more likely to be older when diagnosed, and they often present with non-asymmetric hypertrophy and hypertension.  And, these HCM patients appear to have a more favorable clinical course, with a better track record of survival from major cardiovascular events.

The researchers point out that by sorting patients into more distinct subgroups, doctors will be able to provide more personalized and evidence-based care to patients and their families.  In particular, their recommendation is that first-degree relatives of non-familial HCM patients need only be screened one or more times in adulthood.  Less frequent follow up surveillance is also suggested, in contrast with the more intensive screening guidelines recommended for family members of patients with familial HCM.