Inside a Case Study for Pediatric Heart Failure

2013 Pediatric Heart Failure Summit

When medical meetings want to present a particular topic, they introduce the topic as a “case study.” A case study is the story of a single person that incudes the topic of interest.  While the topic might be of interest to a larger group of people, the case study is an N=1, the discussion of only the single person, and appropriate treatment options for that person in the case study.  The topic of the case study presented at the 2013 Pediatric Heart Failure Summit, is a boy with Duchenne and heart failure.  While this is a difficult topic to think about and discuss, it is one that is close to all of our hearts.  The discussion of options is definitely food for thought.


Case study: BT is a 14-year-old boy with end stage heart failure resulting from Duchenne and dilated cardiomyopathy.  He is on several cardiac medications (ACE inhibitor, beta blocker, diuretic), steroids, and several supplements.  He has been non-ambulatory since the age of 11 but has excellent upper body strength and function.  He has good pulmonary function, needing BiPap only at night.  He has no other organ involvement (i.e., kidneys, GI system, liver, etc. are all working well).  He has been closely monitored for many years, however his cardiac function recently has been noted to be slowly declining.


  • What should be the next step? 
  • Is he maximized on his current cardiac medication therapy and would other heart failure medications (such as an inotrope (milrinone) that can help with the heart’s ability to contract or “squeeze”) help him?
  • Should he receive a left ventricular assist device?
  • Should he be listed for cardiac transplant?


Before I go any further I would like to pause and acknowledge a few important “miracles”.

1) I am sitting in an international pediatric heart failure summit as a representative of Parent Project Muscular Dystrophy, a national patient/parent advocacy group, not as a medical “expert,” and we (the patients and parents) are part of the discussion. 

2) The topic of discussion, amidst all possible topics (and there are thousands), is the ethical management of a child with Duchenne who has end stage heart failure.  3) For this child, all options are on the table.  There are 100ish experts in the room, and no one bats an eye when the “t” word (transplant) is mentioned.  

And (4) there is real discussion. 


Now back to the case study.  And, for an upfront disclosure, I will just hit the “high points,” as this could get extremely long.


All options for this 14-year old are discussed.  First, it is felt that this child is indeed not maximized on his cardiac medications – his ACE inhibitor dose could be raised, his beta-blocker dose is appropriate, inotropes could be added to improve the heart’s ability to “squeeze,” and other less commonly used heart failure medications could be added.  If BT was started on inotropes (milrinone) in the hospital, he could be sent home on “home milrinone therapy,” and could potentially do very well for several years.  He would need to come in for regular follow up visits (weekly, then bi-weekly, monthly then every 6 months), have labs drawn,  have echocardiograms to monitor heart function, have EKG’s to monitor for arrhythmias that can develop on milrinone, have a “port” (an indwelling IV catheter to continuously deliver the milrinone) inserted and carry around a small pump (which cannot be submerged under water or hit/dropped and damaged), monitor his IV site for infection, and monitor his other organ function, especially pulmonary function, closely.  This is clearly the least invasive choice and is likely to prolong his life, so a very viable option.  


A left ventricular assist device (LVAD), which is a implanted device that would assist BT’s left heart in pumping blood to his body, is another potential option.  LVAD’s are expensive and every center is not “expert” in their use.   The question of when is the best time to “pull the trigger” and implant the LVAD is always an issue.  Should the LVAD be implanted when BT is still doing fairly well?  An LVAD is not risk-free, so implanting the device too early might expose BT to the risk of bleeding, stroke, and infection sooner than necessary.  Or do you wait until he “needs it,” meaning that his lungs, kidneys, etc., are beginning to fail, which increases the risk that the LVAD will not help him? And how long will the LVAD be implanted?  Is this a “bridge to transplant” (using the LVAD only until a new heart is available and transplanted) or “destination therapy” (meaning that the LVAD will stay implanted and will assist BT’s heart for the rest of his life)?  Will his insurance cover the implantation of the device and follow up care?  Who will implant the device – the pediatric or adult institution?  How much experience do they have with LVAD’s and Duchenne (centers with the most experience will have the most success)?  Where will he be followed while he has the LVAD (at the center that implants the LVAD or at a different center)?  BT will need regular follow up visits (weekly, then bi-weekly then monthly then every few months), labs (the list isn’t short), anti-coagulation therapy (blood thinners that put him at risk for bleeding), and other medications.  He will need to carry around a small pump and have care takers who are comfortable dealing with the pump and the battery.  Emergency services near his home and school will need to be aware of, and comfortable with, the device.  If we assist the left side of the heart, how long might it be before the right side begins to fail?  How risky is it to implant a Bi-VAD (a bi-ventricular assist device that helps both the right and left sides of the heart) instead of or after an LVAD?  And, as this patient is likely to have the LVAD for many years, what should be done when the other organs (stomach, liver, kidneys, GI system, etc.) begin to fail?  But the LVAD can essentially last forever – when the battery begins to wear out or the device begins to fail, they can be replaced.  It is an invasive therapy, but also a viable option.


What about transplant?  Transplant has long been felt to be the grand prize and a second chance.  But while medications can be tweaked and will work as long as they can be added, increased and they do their jobs, and LVADs can essentially work forever, transplants have huge risk of rejection in the first year.  If a transplant recipient lives through the first year after transplant, the average life of a heart transplant can be 10 to 20 years before the transplant begins to fail or the body rejects the foreign heart.  In addition, Duchenne patients come “pre-medicated” to combat rejection, having been on daily steroids for many years.  A transplant patient will also have regular follow up visits (weekly, then bi-weekly, then monthly, and then every 6 months), many medications (it is a very, very long list), have labs drawn(again, a long list), and cardiac biopsies looking for signs of rejection (done in the cardiac catheterization lab under anesthesia every 6 months). There is also a shortage of available hearts (80,000 – 150,000 adults are currently on the heart transplant list with about 20,000 hearts available each year) and a long list of patients who have been on the transplant list for a long time, some longer than 2 years.  So is transplant, indeed, the grand prize?  Is a patient with Duchenne an appropriate candidate to list?  However, this is a 14 year old who will die, most likely, sooner from the transplant than from his Duchenne.  So transplant is also added to the list of viable options.


In the end, there are no right or wrong decisions.  As in life, there are many things to consider when making a decision regarding next steps in heart failure management. And, as in life, the discussion raises many more questions than it answers.  Missing from the discussion were the difficult questions:  

  • Who decides what therapy and when? 
  • Who sets therapeutic limits and decides when we have done enough and it is time to stop? 
  • Are quality and quantity of life the same thing, and is quantity of life more important than a dignified death? 
  • Can we really ask parents to make hard, hard decisions about lengthening or shortening the lives of their children? 


But – there was a discussion, an amazing discussion, and you and your children’s voices were represented.   Cardiac care has long been of paramount importance to the Duchenne community. Now, through PPMD’s efforts, Duchenne is finally gaining increased importance in the pediatric cardiology community.  Through PPMD’s Cardiac Initiative (advocating for cardiac focused research and care), Pat Furlong’s letter to Katherine Sebelius (advocating for cardiac transplant, when appropriate, for people with Duchenne), our four part Cardiac Webinar series, PPMD’s efforts in Washington (continuing to push for reauthorization of the MD-CARE Act which includes continued improvements in cardiac care and increased allocation of  funds to Duchenne and cardiac focused research), the Transforming Duchenne Care Initiative (which includes optimal care, including cardiac care, for everyone across the US), and PPMD’s research efforts (focusing on novel therapies for the management of Duchenne and heart failure), PPMD has come a very long way in raising awareness that the heart is a muscle too.  We have raised awareness that there is critical need for both the Duchenne and Cardiology communities to collaborate to combat a monster – heart failure.


It is unlikely that we will ever have a protocol that says that every patient gets X therapy at X age and at X stage of disease, as each boy/young man is clearly different and their needs are clearly unique. However, I do hope that we will arrive at a time when all therapies will be available to all patients with Duchenne. I hope that each patient will have access to caring knowledgeable cardiology providers who will thoughtfully review all clinical options and partner with patients and families to arrive at a reasonable plan of care.  We are not quite there yet, but, as I like to say, we are dangerously close.  There are miracles in this world and I am pleased to say that I believe I witnessed one at this international heart failure summit. We are on the road to improved cardiac care for individuals with Becker and Duchenne. 


Our voices are being heard.

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