The Future of HCM Care

Dr. Stephen Heitner, together with his colleagues at Oregon Health & Sciences University, published an article last week in the European Journal of Heart Failure which gives a glimpse into the treatment of hypertrophic cardiomyopathy (HCM) in the future.  Although recent publications have stated that the majority of HCM patients today have a favorable prognosis when receiving appropriate treatment, a heavy disease burden continues to be placed upon patients.  Hence, better and more effective treatments for HCM are still needed in order to lessen this burden.

The article provides a very thorough overview of both current and future HCM therapies and divides them into a few different categories listed below.

Drugs:

  • Potential for New Drugs:  No drugs have been specifically approved for the treatment of HCM by the Federal Drug Administration. Up until now, all drugs used to treat HCM patients (with the limited exception of propanolol) have been off-label uses.  However, this is likely to soon change. Current trials of myosin modulators like MyoKardia’s mavacamten and Cytokinetic’s CK-274 have so far yielded promising results and have the potential to change the treatment paradigm for HCM.

 

Arrhythmia Management:

 

  • Subcutaneous ICDs (S-ICDs) are sometimes a reasonable choice for preventing sudden cardiac death in HCM patients when pacing is not required. This allows the patient to avoid risks associated with lead malfunction.

Septal Reduction Therapy:

 

Gene Editing and Silencing:

  • Pre-implantation Genetic Diagnosis (PGD):  Current medical technology allows patients with known HCM gene(s) to use pre-implantation genetic diagnosis of embryos together with in-vitro fertilization in order to avoid passing along the HCM gene to the embryo.  The future may soon see these methods being used in tandem with gene repair, using CRISPR/Cas9 in order to edit out the errant gene and replace it with a normal one.

 

  • Gene Silencing:  Allele specific gene silencing may also prove to be a technique used in the future for preventing HCM. This technique involves the introduction of an adenovirus containing a short RNA segment designed to turn off the HCM gene.

 

In conclusion, this paper highlights the many things that HCM patients have to be optimistic about going forward.  Perhaps one day soon one of these methods will lead to the ultimate goal – a cure!

Pre-Implantation Genetic Testing to Eradicate Genetic Disease- An Editorial

In this editorial by Lee Cooper published in today’s issue of Wired Magazine, a patient with Long QT Syndrome makes the case for the use of pre-implantation genetic diagnosis (PGD) used in tandem with in vitro fertilization (IVF) as a means to eliminate hereditary disease.

This technique has already been used in HCM; most successfully in cases caused by a single, identifiable genetic mutation. PGD combined with IVF is a potentially viable option for patients with HCM who are planning to grow their families.

Of course, there are many ethical issues raised with the use of this technology, and the use (or non-use) of these technologies is a very personal decision.  Perhaps such moral uncertainty is what caused Cooper’s doctors to be “reticent to discuss IVF head on” and “bashful about the idea of removing [t]his disease from [his] lineage.”

As Cooper says in the editorial “…we can, and we must be able to speak clearly about the best ways to prevent disease if we are serious about eliminating it.”  If every option were to be laid out on the table for consideration by the patient, then s/he would have the freedom to make a final decision in accordance with his/her own unique set of values.

What do you think?