New Diagnosis - Hypertrophic cardiomyopathy

Dr. Paul Grayburn at Cardiology Consultants of Texas met with us this afternoon, and in his opinion Keith's issue is Hypertrophic Cardiomyopathy, NOT a subvalvular web. Hypertropic Cardiomyopathy (HCM) is a genetic disease where the heart muscle becomes abnormally thick. About 1 of every 500 people have this condition.

For the technical jargon, where the cardiac catheter showed a gradient of 80, the ECHO today was only about 35. Keith's septum (the wall between the left and right sides of the heart) measures 1.8 cm. Typically, people with hypertrophic cardiomyopathy who die from sudden death have a septum that's about 3 cm.

Symptoms are (from my favorite web site for Medical Info, the Mayo Clinic list http://www.mayoclinic.com/health/hypertrophic-cardiomyopathy/DS00948:

• Shortness of breath, especially during exercise (Keith has this)


• Chest pain, especially during exercise or exertion (Keith says he sometimes has pain in his diaphragm)


• Fainting, especially during exercise or exertion (Hasn't happened, but Keith has felt like this could happen occasionally while exercising)


• Dizziness (Keith has this every great once in a while)


• Fatigue (If this happens, Keith denies it)


• Heart palpitations - the sensation of rapid, fluttering or pounding heartbeats (Keith has this)

The good news is that while Keith has symptoms, they are normally during exercise, and don't impact his ability to live a normal life. (Grayburn says he will sometimes see someone who has such shortness of breath that it's all they can do to walk from the lobby into his office.) The bad news is that there is a higher risk of "sudden death" for people who have this genetic condition. (Grayburn says that when we hear about a high school football player who drops dead on the field during practice, it is almost always a result of hypertrophic cariomyopathy.)

The basic treatment options for this are:

1. Medicine - Toporol XL (the real stuff, not the generic) is the preferred drug, followed by Verapamil.


2. Cardiac Catheter procedure - spray alcohol onto the part of the heart that is enlarged and essentially cause a heart attack in order to kill the excess heart tissue. (This just sounds awful to me, and I can't help but have visions of someone like me trying to "finesse" the alcohol... "oops, got the wrong spot" or "oops, did a bit too much there!")


3. Traditional surgery where a piece of the enlarged part of the heart is cut away.

Grayburn states that since Keith's quality of life is good NOW, he believes we should go the Toporol XL route and see how that works.

The ECHO results from today are being sent to Cooper Clinic so the cardiologists there can review the information and give us their thoughts. Right now our plan is:

• Keith will take 50 mg Toporol XL daily and will have another ECHO with Grayburn on November 17.


• Since this is a genetic disease, Chris, Jessie and Rory need to have an ECHO to see if they have this condition. (Grayburn has a goal of coming up with a blood test that will identify if someone has the genes found in this condition, so his office can do the ECHOs free of charge as part of that study.)


• Keith & I are going to take a CPR class. This was the number one "task" that Grayburn gave me - luckily, The Cooper Institute offers this class really often, so I should be able to get trained within the next couple of weeks. (Grayburn didn't know about this blog; otherwise he probably would have suggested that I run home and write everything down!)


• Investigate purchasing a defibrillator or two. My good friend Norma, formerly with American Heart, says the price of these units has fallen dramatically, so I'm thinking it might make sense for us to go ahead and have one at home as well as one in Keith's office. (http://www.americanheart.org/presenter.jhtml?identifier=3056596). Grayburn has stated that if Keith does pass out or faint, we'll need to install a defibrillator immediately.


• Keith has a note that gives him 100% freedom to exercise at the gym - cardio, strength, core conditioning, etc.

Getting a diagnosis that includes "sudden death" as an option isn't great, but somehow we both feel like things could be a lot worse. While it might be new to us that Keith has this condition, the reality is that he's been this way since birth. And, we can potentially treat the situation with medications rather than surgery.

All in all, we are both so thankful that we live in a time and place where so many problems are treatable/solveable.