Unwitting Geneticist Discovers Her Own Cardiomyopathy Gene: Heidi Rehm’s Story

Dr. Heidi Rehm is a human geneticist and clinical laboratory director at Harvard Medical School who has spent much of her career studying the genetics of cardiomyopathy.

Imagine her surprise when she found out that she, her mother and her daughter all have a mutation in the MYH7 gene which has been associated with dilated cardiomyopathy!

The unexpected revelation came as an indirect result of a visit to her daughter’s orthodontist.  When one of her daughter’s teeth was delayed coming in, the orthodontist suggested that there might be a genetic cause for the late tooth.  This provided the idea behind her high school daughter’s summer biology research project: 2 weeks in her mom’s lab sequencing her exome, looking for a genetic cause for her delayed tooth.

Though the mouth genetics turned out to be normal and the tooth eventually arrived, an totally unexpected incidental finding turned up instead:  a variation in the MYH7 gene which has been associated with dilated cardiomyopathy.

Continue reading “Unwitting Geneticist Discovers Her Own Cardiomyopathy Gene: Heidi Rehm’s Story”

Insurance Discrimination in Sudden Death Genetic Heart Conditions

A recent study published in the American Heart Association’s Circulation found that a majority of individuals who have a Sudden Arrhythmia Death Syndrome (SADS) diagnosis and/or relatives applying for various types of insurance (such as health, life, travel, and disability) were denied coverage.  The preexisting SADS diagnosis was the predominant reason given for denial.

Though HCM does not generally fall under the SADS umbrella, these findings are equally concerning for HCM families.

SADS conditions generally include:

For more information on these conditions, visit the SADS Foundation.



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.