Could a Tarantula Help to Unravel the Mysteries of HCM?

Researchers from around the globe have joined together to study an unlikely subject in order to understand the genetics of HCM according to a paper published today in the journal  eLIFE.

Dr. Christine Seidman, a cardiologist from Harvard Medical School, Dr. James Ware  a geneticist from the MRC London Institute of Medical Sciences at Imperial College London, and Dr. Raúl Padrón, a structural biologist at the Venezuelan Institute for Scientific Research, have joined forces in order to study the tarantula.

The reason for their focus on the tarantula is because the proteins comprising the muscles inside the furry spider are actually very similar to proteins inside the human heart.

Dr. Seidman, who had taken note of Dr. Padrón’s work with spiders, sought him out at a meeting to discuss the similarity of heart proteins to those in tarantula muscles and asked him whether they might collaborate.

By studying the way that the spider proteins interact with one another, the scientists hope that they will gain further insight into whether and how certain genes cause different types of hereditary cardiomyopathy, including hypertrophic and dilated.

I hope that they find the answers soon, before any tarantulas escape from their lab!

EEEEEEEKKKK!

 

Cincinnati Children’s Blog Answers Questions About Genetic Testing for Cardiomyopathies

This informative blog article about genetic testing features practical advice about genetic testing and is taken from answers provided in a live presentation by Drs. John Jefferies and Ivan Wilmot.

Issues addressed include: how the test is administered, insurance issues related to the test and the meaning of a positive genetic test.

 

 

Ten Years After Myectomy

 

On August 11, 2016, I celebrated the ten year anniversary of the myectomy I had at Mayo Clinic in Rochester, MN.  To commemorate the auspicious occasion, for the first time in many years, I wrote a blog entry on my old blog, Cynthia’s Summer Adventure.  I created Cynthia’s Summer Adventure so that my friends and family could follow my progress during surgery and also, so that other HCM patients would have an opportunity to see what it was like to go through the myectomy process at Mayo Clinic.

This week I opened my mail, and between the many envelopes containing bills and the ever present promotional leaflets from local realtors, I found a large envelope from Mayo Clinic.  This envelope contained a survey for me to fill out with a bunch of questions about my heart condition.  All of the questions in the survey are specifically targeted at patients with Hypertrophic Cardiomyopathy.  The survey asked me how I am feeling now, what medications I am currently taking and whether I have had other cardiac complications or procedures in the ten years following my myectomy surgery.

Ten years after I had my open heart surgery, I am so glad that I chose Mayo so that I am able to participate in and benefit from all of the meaningful research they are doing on the condition.  This research will continue to benefit my descendants and relatives in the hope that some day, HCM will no longer be part of our lexicon.

Many HCM Patients Physically Inactive

According to a recent study of HCM patients, more than half of the patients surveyed did not participate in adequate physical activity due to complaints of pain, injury and disability.

The takeaway from this study is that for those with HCM, physical activity should be encouraged to the extent possible for each patient.

For more on exercise, see the AHA Guidelines for exercise on the Hypertrophic Cardiomyopathy – HCM For Short page of this website and the HCM exercise program developed by Toronto’s Peter Munk Cardiac Centre listed at bottom of the Resources  page of this website.

 

Unsuspected AFib Detected in HCM Patients

A recent retrospective study published in the Journal of Cardiovascular Electrophysiology found that atrial fibrillation (AF) occurred for the first time in 16 of 30 patients (53%) of patients with implantable devices being followed at the center conducting the study.

Of the patients experiencing AF for the first time, 14 of 16 (88%) of the patients were not aware of having experienced any clinical symptoms.  As patients age, AF appears to be a common consequence of HCM.  Patients may be caught unaware and unprepared, so monitoring is especially important.

HCM May Develop Later in Life

A recent study followed 14 patients carrying one of two known genes associated with HCM (MYBPC3 and MYH7) over a 10+ year period .  At the time  of gene identification, none of the patients shown clinical evidence of hypertrophy.  Over the time span of the study, 3 patients, who were then adults, had developed signs of HCM.  Hence, the study suggests that periodic screenings are necessary for gene positive individuals throughout adulthood.

According to Cardiomyopathy U.K., the researchers undertook this project due to the lack of information and guidelines available to patients who are gene positive but have no outward signs of the disease.

Severe Pediatric Cardiomyopathy Causing Gene Identified

 

 

A recent article in Science Daily discussed findings of geneticists in the Netherlands which revealed the existence of  a mutation in the gene alpha-kinase 3 (ALPK3) which, if inherited from both parents, may cause severe cardiomyopathy in children.

Cardiomyopathy U.K. recently featured this story on their website.

See here for study.