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.