From Death, Life

Greater love hath no man than this, that a man lay down his life for his friends. – The Gospel of John; Chapter 15, Verse 13

I hate that he’s gone, and I hate everything about the CHD that took this perfect child from us. Nothing can replace him, and nothing will help us “get over” this. It is too much. – Comment left last night by Ewan’s mom.

Lord, yes. Nothing can replace him, and nothing should. This was a life cut much too short. It’s been a rough week in the Congenital Heart Defect (CHD) family, as at least six CHDers of all ages have passed. Always the optimist, my hope is that someone, somewhere learned something new from one these cases. And perhaps they can couple that new knowledge with what they already know and find the key that unlocks the mystery.

Older CHDers can help, too. Something has kept us going much longer than anyone predicted…what? When I shuffle off this mortal coil I plan to leave my heart to medical research. Let them poke and prod as much as they want, I won’t mind. And perhaps someone can figure out why some of us are only granted an hour upon the stage and then are heard from no more, while others seem to be here tomorrow, and tomorrow, and tomorrow.

There is a reason why that happens… what is it? We haven’t found it yet. But I live in the hope that if something – anything – is gleaned from such a sad event it will be knowledge. Even if all that is learned is what not to do, that helps bring us one step closer.

Replace the PulseOx test for CHD!

Just a few weeks ago the Pulse Oximetry test (also known as PulseOx) became part of the Newborn Screening Uniform Panel. In a post on this blog, we discussed how the PulseOx was a good test, but not perfect.

But what if we could discard the PulseOx, in favor of a better test?

Hot off the press – really, it hasn’t even been printed yet, it was electronically published before a print version is available – is a study by the University Medical Center in the Netherlands. Appearing in the European Journal of Clinical Investigation is a study (CLICK HERE to read the abstract) showing that certain biological markers do show up more often in children with Congenital Heart Defects! In the study, higher concentrations of S-adenosylmethionine, S-adenosylhomocysteine, and folate RBC were observed in children with heart defects.

(Don’t ask me to explain all that; it’s DNA and Molecular Biology with a little Chemistry thrown in for good measure!)

Could this test replace PulseOx? Perhaps… but not tomorrow. The study was a relatively small study, with only 329 children participating. (143 CHDers with 186 heart healthy children as a control group) The researchers themselves even stress that more research needs to be done.  But we could very well be looking at the first steps to a foolproof, 100% accurate “GOTCHA!” test for heart defects. And by studying the DNA changes that occur with a CHD, we could unlock the secret to how heart defects occur… and stop them before they begin!

Special thanks to Amy Basken for bringing this research to my attention. Amy is tireless, working for several different CHD groups. Today she represents Mended Little Hearts!

The PulseOx test – not perfect, but good

If you have been reading Facebook or Twitter this past weekend, you’ve probably seen the news: The Health and Human Services’  Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) voted to recommend pulse oximetry screening for critical congenital heart disease be added to the newborn screening uniform panel.

According to what I have read, the Health and Human Services Secretary now has 180 days in which to consider the recommendation and decide to either accept it or reject it. Historically the Secretary acts fairly quickly and usually accepts the recommendations given by her advisors, so the major hurdle could well have been cleared. It could only be a matter of time before the Pulse Oximetry becomes standard practice.

No PulseOx testing protocol exists yet. The official recommendation by the Health Resources and Services Administration addresses this issue, by stating “The Health Resources and Services Administration shall guide the development of screening standards…”

This will delay the process – with no testing protocol, the recommendation can’t be accepted on a Tuesday and the program begin at 12:01 AM Wednesday. For the results to mean anything, a medical test must be administered in the exact same manner each and every time it is given. For example, I need to have some blood drawn this week. The nurse will apply a tourniquet to my arm, inset a needle into a vein in the crook of my elbow, and draw three vials of blood. Everyone else, no matter where they are, who has those tests done will go through the same process. Protocols are an essential part of medical testing. As this 2008 report notes, “Nursing staff received in-service training in the screening protocol and performed the pulse-oximetry procedure.”

In this study the type of  Oximeter is specified (under the heading “Methods”). This is also an important part of the protocol – perhaps not the exact same type of testing equipment, but a standard that must be met, and probably an agreed on calibration procedure. If you step on and off a manual scale enough times, the pointer will no longer return to zero… and your weight will be inaccurate until the scale is “zeroed out.” A pound or two won’t make much difference, but a point or two difference on a PulseOx reading could mean alarmed parents and unneccessary testing. A proper testing protocol would even specify a testing location, as studies have shown slightly lower PulseOx readings when the test is performed on the foot. Fussy or crying babies also produced lower saturation numbers.

Despite what you may have heard, the PulseOx test isn’t that accurate when performed on heart defects that do not cause Cyanosis. Cyanosis (medical term: Hypoxemia) comes from the root word Cyan, meaning “blue,” and is caused by low levels of oxygen in the blood. Cyanosis can be hard to detect, as the oxygen level has to drop below 90% before it begins to appear. Cyanosis will cause the lips, fingers, and toes to have a blueish tinge. (SEE THIS ILLUSTRATION) Non-Cyanotic (also known as “acyanotic”) Heart Defects account for 70% of all defects. When these defects are present, blood oxygenation (and therefore the PulseOx reading) is usually normal. In fact, the recommendation is only meant for CCCHDs, or Critical (sometimes the word Complex is used) Cyanotic Congenital Heart Defects.

While the Pulse Oximetry screening test is not the complete answer for detecting Congenital Heart Defects; it is certainly part of the answer – another piece of the puzzle; another arrow in our quiver. My idea – and I don’t know if it is just a pipe dream, or a discovery we haven’t made yet – is to find a “bulletproof” test that indicates the presence of a heart defect. Does a defective heart release a gene, an enzyme, or any kind of biomarker into the bloodstream?   If we could find that marker and learn how to detect it… Gotcha!

But until that day comes – if it ever comes – you throw everything but the kitchen sink into the fight.

REACH for the goal!

Great news: The Adult Congenital Heart Association (ACHA) announced today that the Research Empowerment in Adult Congenital Heart Disease (REACH)  initiative would receive a one million dollar federal grant! The money will be used to activate CONGENERATE – The Congenital Evaluation, Reporting, and Tracking Endeavor. CONGENRATE is an Electronic Health Record (EHR) designed for Adult Congenital Heart Defect Survivors!

REACH is a joint project between the ACHA and the Alliance for Adult Research in Congenital Cardiology. The two groups are already working together on HEART-ACHD, a two-year study of why adult CHDers “fall through the cracks” and  get away from good Cardiological care. And we aren’t in this alone: CONGENERATE will be tested at Oregon Health Sciences University, Nationwide Children’s Hospital, Cincinnati Children’s Hospital Medical Center, Children’s Hospital Boston/Brigham and Women’s Hospital, and Children’s Hospital of Wisconsin.

Whenever I travel, I take a large folder with me that contains basic health information, my diagnosis, the names of my doctors (Including my team of Cardiologists in Atlanta and that I would rather they be the first doctors contacted) EKGs, and a diagram of my heart. It comes in handy – it was with me when I went to the Emergency Room in Houston, and I have a smaller version in my back pocket when I leave the house.

If CONGENERATE had began five years ago, I wouldn’t need my folder. I’d have an ID card or an access number that could have been entered into a computer and everything you need to know about me would appear on a computer screen! CONGENERATE should be ready to roll out sometime in 2012…. and if it is a success, perhaps the next project would be a similar application for Cardiac Kids!

ACHA’s vision for every CHDer is “a life unlimited by congenital heart disease.”  Projects like CONGENERATE are small baby steps in that direction.

When the test doesn’t work

A recent clinical trial showed disappointing results: Enalapril, used to treat high blood pressure and heart failure, was being tested in infants born with a single ventricle heart. The basis of the trial was that since the drug works in adults, perhaps it will also work in children.

It didn’t work at all.  When the results were analyzed, the outcomes for Enalapril group and the Control group were  practically identical. The results of this randomized trial do not support the routine use of enalapril in this population, the researchers wrote.

Did the drug fail? Certainly, it did not produce the desired result. But the clinical trial shouldn’t be considered a failure – after all, now doctors know what not to do. They may not have any better answers, but now they know that prescribing Enalapril in these circumstances won’t work. And sometimes you have to learn what not to do before you figure out what you should do.

Cardiology is littered with the relics of operations, drugs, and procedures that were abandoned in favor of something better. As I mentioned in my presentation in Houston, I had the Blalock-Hanlon procedure during my first surgery in 1967. At that time it was done regularly – the only way to enlarge or create an Atrial Septal Defect was to open the Right Atrium and use a scalpel or a probe to literally poke a hole. Today the operation has practically been retired, since so much can be done with Catheters. Today’s Heart Parents have never heard of the Waterston Shunt or the Potts Shunt – both operations were dropped when someone thought of a better way.

When someone tells you they have had the Fontan, you should ask them when they had it… it has evolved over the years, and each version has good points and bad points. Protein-Losing Enteropathy (PLE) doesn’t seem to affect anyone except Fontan Survivors, and not all of them. And one day scientists will figure out PLE, or the Fontan will be altered again…. or a better procedure will replace it.

And who knows? Perhaps at a Congenital Heart Defect (CHD) Conference in the year 2041, someone will ask “You had the Fontan? What’s that?”

She blinded me with SCIENCE!

A recent Funky Heart! post has been included in the 24th edition of Scientia Pro Publica, a blog carnival dedicated to scientific subjects written for the layman. Scientia Pro Publica is being hosted this week at 360 Degree Skeptic, the blog of a former professor of psychology at Daytona State College.

All the organs that are fit to print!

There are several new technologies being developed to create replacement body parts in the lab. We’ve discussed Stem Cells and the Wake Forest Institute for Regenerative Medicine (WFIRM), but here’s an idea we haven’t mentioned yet: The Bioprinter.

Imagine a printer – much like the Inkjet or Laser printer that is connected to your computer – that prints out human organs rather than letters or photos! It’s not such a dream!

Dr. Gabor Forgacs is the creator of this particular Bioprinter (There are several; each uses a slightly different process) and it works much like a standard printer. But instead of ink, the printheads fire a mixture of human cells (collected from the organ you want to reproduce) and a growth medium Dr. Forgacs calls “Bioink”. Instead of regular paper, the Bioprinter uses a gelatin sheet called (What else?) Biopaper.

One sheet of Biopaper won’t do it – you print several sheets, align them properly, and wait six weeks. During that time the human cells grow and fuse together as the Biopaper dissolves. The result is a human organ ready for transplant – with a 0% rejection rate. This may not be such a pipe dream – Dr. Forgacs thinks we are five years from a major breakthrough with Bioprinters.

CLICK HERE for Dr. Forgacs’ description of the process in an interview with National Public Radio’s All Things Considered. And while you are doing that, I’m going to make some “adjustments” to my printer….!

Where’s ours?!?

There is a new publication produced by the Centers for Disease Control (CDC) named The Atlas of Heart Disease Hospitalizations among Medicare Benificiaries. It is available from them in printed form (They say it is available but it is not listed – they could be out at the moment); as a downloadable PDF file; or even as a group of interactive maps.

This is really cool stuff, and leads to the question… Where’s ours? Where’s the Congenital Heart Defect (CHD) statistics?

There are some CHD statistics, but the massive amounts of data needed to compile something like The Atlas for CHDs just isn’t available. It’s too spread out – these records live in medical files in places like Johns Hopkins Hospital, The Mayo Clinic, Denver Children’s Hospital… and the list goes on and on. Some of those records even hide in the files of a small community hospital, the only facility  in the hometown of a newborn.

Even though we are working for the Congenital Heart Futures Act and the Registry that the legislation will create, change won’t happen overnight. The actual database has to be created first – a database that can handle approximately 40,000 new entries per year with numerous variables. And once created, such a database will be empty – will designers choose to include records that previously exist? I’d guess yes, but no one will be assigned to cull the records from America’s hospitals and doctors offices. There are just too many. What would probably happen is that the system would “go live” on a certain date and everyone who reports a CHD birth after that date, the information would be entered. At their next appointment with their Cardiologist, CHDers will be asked if they would consent for their records to be entered in the database. Hopefully most of us would say yes.

It would be a few years before there was enough data to study, but once that occurs, I’m hopeful there would be a lot of research done.

Cyanosis causes Cancer?!?!

There is a new scientific study recently published that very well could prove a link between Cyanosis (A common occurrence with Congenital Heart Defects) and – of all things – cancer. The theory of young Cardiac Kids receiving high doses of radiation which possibly cause cancer later in life may prove to only be a theory.

As is often the case, researchers were looking not looking for the results they found. Dolores Takemoto, a professor of Biochemistry at Kansas State University, was studying proteins in the human eye. Her ultimate goal was to try to find ways for diabetics to save their eyesight, but she stumbled upon an unexpected discovery: The protein Coonexin46 (Cx46) will appear when there are low levels of oxygen in the body. This low oxygen condition is known as Hypoxia. And Cx46 is present in cancer cells – especially breast cancer.

So what does this have to do with Congenital Heart Defects? Severe Hypoxia causes Cyanosis… a term that many CHDers are familiar with.

OK, so if Cx46 is present in cancer cells, and appears in the presence of Hypoxia, is there anything we could do to stop it? Yes – but you need a medication that hasn’t been invented yet.

Takemoto’s lab is working on creating a specific  Small Interfering Ribonucleic Acid, also known as a siRNA, to lower the levels of Cx46. A siRNA is a double strand of RNA molecules, and they counter certain genes. This is literally targeted gene therapy, a siRNA (in theory) will attack and smother a certain cell type and leave everything else alone.

Another researcher working on this problem with Takemoto is following a different path, studying the cancer prevention implications. The discovery of the Hypoxia/Cx46 connection opens the door not only to advances in fighting Congenital Heart Defects and Aquired Heart Diseases, but also to various types of cancer research and diabetes control.

“If we win here we can run the table.” – Sam Seaborn, The West Wing

Devil in the Slot

BONUS: 100 Karma Points to the first person who can leave a comment telling me where the title of this post originated!

You have a heart defect.

No, I’m not talking about the 1 in 125 of us who live with a Congenital Heart Defect, I’m talking about YOU. Mr. or Mrs. Average. You were born with a heart defect. Two of them, actually.

Obviously, you don’t need to breathe while you are still in your mother’s womb. You can’t breathe, unless you can somehow magically breathe fluid. So your lungs are “turned off” and you have two small defects that allow the heart to function but blood to bypass the lungs and pick up its oxygen from your mother. When you are born and you take your first breath, the body sends a signal to those two defects to shut down and for the lungs to take over.

(Pretty cool, huh?)

One of these small defects is called the foramen ovale and it is really a very small Atrial Septal Defect. In fact, it isn’t really a hole in the septum, it is two overlapping flaps. When you begin to breathe and blood begins to flow properly, these two flaps will eventually seal closed and everything will be great. In about 30% of people, however, it doesn’t close. When that happens, it is called a patent foramen ovale, sometimes called a PFO (“patent” means “stuck open”).

Many times this doesn’t cause much of a problem; sometimes it is even undetectable unless the patient coughs while having an ultrasound.

Now here is the problem: when a person has a PFO, or when it is slow to close, occasionally a small “pouch” forms in the wall of the Left Atrium. Doctors at the University of California at Irvine recently found that pouch while doing autopsy research, and it could be the source of several problems.

That little pouch is nice and quiet; any blood that gets in there settles down – it’s no longer part of the normal blood flow, and it is pretty calm in there. While the heart is pumping and blood is churning all around it, it’s a nice quiet little neighborhood… almost a gated community. (This Link has a good explanation and has a nice drawing of the pouch about halfway through the article. )

That’s not good. Blood can settle in the pouch and form a clot. And since it is on the left side of the heart, the clot skips the lungs (which not only add oxygen to the blood, but they also act as scrub brushes, too!) and then it is off on a tour of the body. Round and round she goes, where she stops nobody knows. But if it stops in the wrong place….

STROKE!

So if the doc tells us we have a PFO, we should get it closed, right? Perhaps, and perhaps not. The medical evidence isn’t in yet. We know what might happen, what could happen – but how many times is the pouch really the cause of a stroke? We don’t know yet. A clinical study (the RESPECT trial) is being conducted right now to determine if a PFO causes more strokes. At least one doctor isn’t waiting to find out – she’s full steam ahead. The Food and Drug Administration is saying wait a minute, slow down, catch your breath… let’s see what the evidence says. Then we can decide. (You really need to read what Isis has to say about PFOs, she gets the point across quite well, in simple English and with a lot of humor, too!)

So, is there really a devil hiding in that “slot” that could be in your heart? And if there is, what are the chances of him coming out? No one knows… yet.