Cardiogenetics: Detecting and Preventing Heart Disease Before it Strikes

Tune in to the full podcast with Dr. Susan O’Donoghue.

A relatively new sub-specialty of cardiology is helping people with a family history of certain serious heart problems understand their risk of developing the same conditions and how to prevent them.  Called cardiogenetics, the service is usually only available at advanced heart centers like MedStar Washington Hospital Center, which opened the first program in the Washington metropolitan area. But during the field’s short history, cardiogenetics has already demonstrated its value in identifying some inherited heart syndromes and improving, even saving, the lives of individuals with genetic-based heart disease.  

That’s because some very specific and dangerous heart problems are known to have strong genetic components. Yet until now, we’ve had to rely on clinical findings, EKGs and imaging to diagnose and treat such conditions—most often, after symptoms have surfaced and the damage has already begun. In contrast, cardiogenetics gives us a new type of tool that can actually help predict the likelihood of developing the disease, allowing us to make pre-emptive strikes before problems arise.  

Cardiogenetic Testing—When and Why  

Despite the prevalence of cardiovascular disease in the United States, cardiogenetic testing is only used for a subset of conditions. Testing is most often recommended because of a suspicious finding on a patient’s EKG or other test, his or her symptoms, or personal or family history. Red flags include fainting or palpitations during exercise, a diagnosis of heart failure at age 40 or younger, multiple family members with the same heart condition, or an incidence of sudden, unexpected death in the family.  

To date, the conditions most suitable for cardiogenetic testing are a few specific structural and electrical abnormalities that can produce fatal irregularities in the heart’s rhythm, including hypertrophic cardiomyopathy (HCM) and long QT syndrome (LQTS). Anyone with an inherited heart disease like HCM or LQTS may face a 50/50 chance of passing this genetic error on to their children.  

Hypertrophic cardiomyopathy, an abnormal thickening in the walls of the heart muscle that restricts blood flow and weakens the heart, may result in ventricular fibrillation, a fatal arrhythmia. Quite common, HCM occurs in roughly 1 out of every 500 people and is the leading cause of sudden cardiac death in people 30 and younger, in which the heart suddenly stops beating, without warning.  

If an individual is found to have a defective HCM gene, we can then screen family members to determine who, if anyone, is at increased risk for the condition and needs close follow-up for early identification of disease and intervention. If the genetic error is discovered in a child, for instance, precautions might include frequent monitoring, an echocardiogram every few years and other safety measures, such as avoiding competitive sports. Conversely, a negative finding frees parents and kids from increased vigilance, life-style restrictions, and worry…at least for HCM.  

How it Works

Cardiogenetic testing is extremely simple for the patient, as it only involves collection of blood or saliva samples. Then the tricky part begins, as specialists work to find potential molecular changes that indicate—or, more often, suggest—the presence of the genetic material responsible for the disease.  

There are three possible outcomes:

  • Positive: a genetic error is causing the patient’s disease or symptoms.
  • Negative: there is no evidence of a genetic mutation.    
  • Inconclusive: something genetically unusual is discovered, but science does not yet understand the relationship between the mutation and the disease; i.e., the genetic variation could be harmless or harmful.

If tests identify a genetic disorder, recommendations range from avoiding certain things (like some common medications, strenuous exercise or excessive alcohol consumption) to watchful waiting to the prompt initiation of medical, electrophysiological or surgical treatment.

Fortunately, we have the full array of proven and promising treatments available, multiple experts in every aspect of cardiac care and a certified genetic counselor in cardiology who can help guide patients and families in their decisions.

Knowledge is Power

As scientists continue to learn more about the genetic basis for heart disease, the field of cardiogenetic testing will evolve as well. Until then, interpretation is often as much art as science.

Because of the field’s newness and complexity, current consensus guidelines advise that cardiogenetic testing only be carried out by dedicated centers, like ours, that offer genetic counseling before and after testing. That assures that patients and family members understand the various implications of results and options so they can make fully informed decisions.    

Meanwhile, a patient’s best bet to defeat or minimize hereditary disease, of any type, is to be aware of his or her family’s medical history. In the presence of arrhythmias, congestive heart failure or cardiac arrest, ask your physician whether cardiogenetics testing might be appropriate for you. Results can help you eliminate, postpone or reduce the effects of genetic conditions or, if negative, reassure you that you’re not following in your family’s footsteps. Either way, knowledge is power!

Listen to Dr. O’Donoghue’s podcast interview about cardiogenetics.



First in Northeast Region to Implant Investigational Stroke-Reducing Device

Washington, D.C., March 9, 2017 – MedStar Heart & Vascular Institute at MedStar Washington Hospital Center became the first facility in the Northeast region to implant an investigational device designed to prevent stroke in patients with atrial fibrillation (A-fib) or an abnormal heart rhythm.  

The electrophysiology team–Manish Shah, MD and Sarfraz Durrani, MD– implanted the AMPLATZER™ Amulet investigational device, as part of a nationwide clinical trial to evaluate the device’s safety and effectiveness. The Amulet works by sealing off the left atrial appendage (LAA), a small area of the heart, where blood clots form and migrate into the bloodstream, potentially causing a stroke.  

“The Amulet left atrial appendage closure system is a new device that may potentially offer protection to our patients at high risk of stroke who are poor candidates for blood thinning medications,” said Dr. Shah, who is the principal investigator of the Amulet trial and director of the Clinical Cardiac Electrophysiology Fellowship Training Program at MedStar Washington Hospital Center.  

In some patients with A-fib, the LAA does not contract effectively and it can become a source of blood clots. These clots can then be released into the heart and enter the bloodstream, where they can travel to the brain and cause a stroke. Currently, patients with A-fib are often prescribed blood-thinning medication, but this treatment option comes with a lifetime of medical management and the risk of major bleeding. By closing the LAA with the Amulet, physicians can block off the LAA and potentially reduce the risk of stroke.    

Patients enrolled in the clinical trial are randomly assigned to receive either the AMPLATZER™ Amulet or the WATCHMAN™, the only FDA-approved LAA closure device in the control arm of the study. The main difference between the two devices is that Amulet does not require patients to take blood thinners for 45 days after implantation.  

In the meantime, WATCHMAN has been a game-changer to protect A-fib patients from stroke. After WATCHMAN gained its FDA approval, MedStar Washington Hospital Center became the first facility in the Washington region to implant the device. To date, more than 100 patients have been outfitted with the WATCHMAN devices. That’s more implants than any other institution on the Mid-Atlantic seaboard. 

Safer, Faster, More Comfortable Cardiac Catheterization Gaining Ground

Since the 1970s, heart specialists have diagnosed and even treated certain conditions through cardiac catheterization—the process of threading a thin tube through an artery to reach the heart and its vessels. The technique gives cardiologists a close look at what’s going on inside, and even more importantly, the ability to intervene on the spot in cases of blocked, narrowed or weakened arteries.

In fact, cardiac catheterization is so common today that more than 1 million people in the United States undergo the procedure each year. And in nearly every case, cardiologists use the femoral artery, a large vessel deep in the groin, as the point of entry.

But not always.

Listen to the full podcast with Dr. Robert Lager.

The Current Landscape

“There’s been a push over the last five years or so to approach cardiac catheterization through the wrist, using the much smaller radial artery,” says Robert Lager, MD, an interventional cardiologist at MedStar Heart & Vascular Institute at MedStar Washington Hospital Center, and president of MedStar Cardiology Associates. “It poses less of a risk of bleeding—the major complication of traditional cardiac catheterization techniques—and it’s more comfortable for patients.”

That’s because recovery from the femoral approach requires patients to remain motionless on their back for four to eight hours to prevent significant post-procedure bleeding and other potential complications. For many, that inconvenience is a small price to pay for a potentially life-saving procedure. But for those with congestive heart failure, back or breathing problems, the protracted time lying flat can be miserable.

By contrast, recovery from the transradial approach is fast and easy.

“In theory, a patient could literally walk off the table after transradial catheterization,” says Dr. Lager, who uses the approach for approximately 80 percent of his cases. “In reality, we keep people in bed for an hour or so post-procedure to monitor for any problems from sedation. But they’re free to sit up, and even get a drink or eat soon afterward.” In addition, the time to discharge is shortened for those going home, and avoiding the groin allows patients to resume more strenuous activities like climbing stairs and aerobic activity earlier in their recovery, adds Dr. Lager.

Transradial cardiac catheterization has been the norm in many parts of Asia and Europe for decades. In the U.S., it currently only accounts for about 30 percent of procedures, in part because of the steep learning curve. However, that ratio is quickly changing.

“As more cardiology fellowship programs train new doctors to use the wrist instead of the groin for cardiac catheterization, we are getting closer to a tipping point of transradial becoming the default approach,” says Dr. Lager. “It’s already the preferred choice among younger cardiologists.”

Who Should Get Transradial Cardiac Catherization?

Not everyone is a good candidate for the transradial catheterization, however. Patients on dialysis may not be eligible, for example. And patients who have had bypass surgery can also pose more technical challenges, although Dr. Lager still uses the wrist for the vast majority of his bypass patients. In fact, national statistics report a 90 percent success rate for the transradial approach overall.

For those who are eligible, however, the advantages in comfort and convenience are compelling.

“Patients are already seeking out physicians who will do the transradial procedure,” concludes Dr. Lager. “As more people learn about its benefits, the demand is only going to increase.”

Catch the full podcast featuring Dr. Lager here.

On a New Mission

Leading up to this summer's opening of the Nancy and Harold Zirkin Heart & Vascular Hospital at MedStar Washington Hospital Center, we will be sharing a series of stories that provide a glimpse into the lives of some of our heart and vascular patients, the care they received and what life has been like for them since being treated. Today we visit with retired Navy Admiral, Tim Heely. 

An Unexpected Trip To The Hospital

Tim Heely, a retired Navy Admiral and F-18 pilot, has always been very active and diligent about his health. One night, after his daily run of about 5 miles, Tim started to experience pain in his arm and had difficulty catching his breath. True to his nature as a navy pilot, Tim was predisposed to not go to the doctor and decided to wait it out. He thought he merely had a case of pneumonia and never expected to eventually need a heart transplant.

Eventually, Tim’s wife convinced him to see a doctor, and they went to MedStar St. Mary’s hospital close to their home in Southern Maryland. Within minutes, Tim was being sent to MedStar Washington Hospital Center in D.C. Once they arrived, Tim had a couple of stents implanted by the time his wife was able to park the car and enter the building.

Tim had had a heart attack that did so much damage, his heart was unable to sustain itself. Tim says, “I like to think that when I went in [St. Mary’s] they knew exactly where to send me and who to call. There’s strength in having that tie.”

New Wingmen, A New Heart

Tim explains, “As a navy pilot, I took risks every day and loved it. I learned to trust my training, my aircraft and my wingmen.”

Throughout the course of 5 days, Tim put his full trust in the heart and vascular team at MedStar Washington as they worked diligently to stabilize his heart. Unfortunately, Tim’s body rejected each treatment attempt. It was then decided that a Left Ventricular Assist Device (LVAD) would be the best option while he waited for a new heart.

Tim received the LVAD on May 17th, 2011 and enjoyed good health for 2 years, until a complication meant that it was time for a heart transplant.

On May 7th, 2013, Tim received a new heart.

“Thanks to the doctors and the nurses I’m back alive and I shouldn’t be,” Tim recounts. He remembers one specific instance during the beginning of his care when his body was rejecting multiple treatments. One resident was really putting in the extra effort. She noticed something was wrong, made phone calls and spent a lot of time trying to figure out what was going on.

When Tim received his heart transplant, he recognized the voice of one of his doctors, the same resident that had put so much attention to his care nearly 3 years before. Tim expressed his gratitude, “There's like 3-5 times where someone really made a difference, and if they weren’t there I would have been dead, this was one of those times.”

Transplant Triathlons

Although Tim decided not to return to work due to a stressful commute, he has started his own company and is also taking part in his own self-run transplant triathlons. He walks, kayaks and bikes multiple miles a day. “I feel really good. I want to be the guy that didn’t let this get him down. I wanna be the guy where people say ‘can you believe what this guy did?’ ”

Since that day, Tim has seen all of his children marry, and he now has 2 grandsons. “I’m very grateful and I feel in a lot of ways better than I felt before because I’ve died and come back and everything means a little bit more to me. Every day I wake up and I thank my donor and the donor’s family.”

Tim has also served as a mentor for other patients receiving care at the MedStar Washington Heart and Vascular Institute, “I’ve mentored about 6 people on getting the LVAD or getting a heart transplant. I like telling them that there is hope.”

Tim shares that getting a heart transplant “...was a very good learning experience on so many levels. Everyone has a problem and you may just not know it. None of us is perfect, we all have something.”

Have any questions?

We are here to help! Contact us for more information about heart transplants or to schedule an appointment. Call us at 202-877-3627.

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Building a Future

Leading up to this summer's opening of the Nancy and Harold Zirkin Heart & Vascular Hospital at MedStar Washington Hospital Center, we will be sharing a series of stories that provide a glimpse into the lives of some of our heart and vascular patients, the care they received and what life has been like for them since being treated. Today, we visit with Alberto Gomez. 

Advanced Heart Failure Takes its Toll

Alberto Gomez is the owner of a Washington, D.C.-based construction company who has always enjoyed good health, and who has rarely spent much time with doctors aside from yearly physical examinations.

However, noticeable fatigue and discomfort led him to seek care at MedStar Washington Hospital Center. At the age of 66, Alberto was diagnosed with advanced heart failure. He was given the sobering news that his heart was functioning at an estimated 15%, and that he would need a heart transplant in order to survive.

“It was a very sobering experience to come from not having seen doctors in a long time to seeing them every day, to every 5 minutes, to every 15 minutes,” shares Alberto.

A Second Chance

After meeting with Dr. Ezequiel Molina, a cardiac surgeon at MedStar Washington Hospital Center, Alberto learned that he was a candidate for a new technology called Left Ventricular Assist Device or LVAD, a device that is implanted into the chest that supports the pumping function of the heart. This would be his lifeline until he was able to receive a heart transplant.

After receiving the LVAD, Mr. Gomez suffered complications, such as strokes, that left him with limited movement and speech impairments. Throughout this process, he received a lot of therapy and encouragement from his team at MedStar, “and the smiles,” says Alberto. “I tell a lot of jokes so I can laugh when people laugh, and I can enjoy them when they enjoy them.”

Alberto’s willingness to work in conjunction with the doctors, as well as the holistic approach to care that Alberto received from the team at MedStar, made a huge impact on his recovery process. He shares that, “the support one receives from the professional staff, the administrative staff, the nurses, and everyone around, they create the environment for recovering much faster than it would normally take.”

A New Heart

On November 9, 2014, Alberto received a call from Jessica Rice, a heart transplant coordinator at MedStar Washington Hospital Center, letting him know that a matching heart had been found.

On December 10, 2014, the same influential team at the Hospital Center that worked with Alberto to diagnose and treat his advanced heart failure with the LVAD device, helped implant his new heart. Continuing his care with the same team was paramount in his process. “They knew what was inside, they knew what they had to take out, and now they knew how they were going to transplant the new organ in,” says Alberto. “My doctors were not just my doctors. They were my friends, they became part of the family, they were my confidence.”

Back To The Business Of Life

Alberto is still growing accustomed to life with his new heart. His motto is, “it’s not a fast race, it’s a race of endurance. It’s not how fast I go, it’s how secure I get there.” He is much more careful with how he cares for his body, he is more aware of the movements he makes and is careful not to put too much strain on his muscles until he recovers his full strength.

Now, Alberto is back to running his construction business, Prince Construction, with a keener outlook on life.

Alberto wakes up each day with gratitude, “you appreciate now what used to be somebody else’s heart, and it’s a heart that you take care of and every day the first thing you do is thank God for being alive and pray for the donor and the family who were generous enough to allow their sibling to provide a heart for you to keep living.”

He wants others experiencing a weakened heart or coping with advanced heart failure to know that, “there is hope that there are ways to overcome it, and with faith and determination and with professional knowledge of the doctors you are in great shape to recover."

Have any questions?

We are here to help! Contact us for more information about advanced heart failure or to schedule an appointment. Call us at 202-877-3627.

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