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.
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.
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.
- 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 well as many other helpful resources which are listed on HCMBeat’s Resources page.
A study published today by Dr. Carolyn Ho, of Boston’s Brigham and Women’s Hospital, and colleagues, including Australia’s Christopher Semsarian, found that there are several factors which appear to stand out in young people who later go on to develop HCM.
The children/adolescents/young adults who participated in the study all carried at least one gene associated with HCM, and were members of families with strong histories of HCM. None of the 38 young people had clinical manifestations of HCM at the beginning of the study period, while 4 went on to develop HCM by the end of the study. In collecting the data analyzed in the study, the test results of the 4 individuals with HCM were compared to the 34 individuals that did not have HCM at the end of the study.
The factors associated with the development of overt HCM, as identified by the researchers, were: abnormal left ventricular relaxation and higher ejection fraction, EKG changes, longer mitral valve leaflets, higher NT-proBNP concentrations and troponin values.
In the conclusion, the authors acknowledged the need for further research and investigation in order to better understand the natural course and evolution of the disease.