“Genetic defect links respiratory disease and congenital heart disease”
I came across this press release from June 2007.
“The same genetic defect that causes a rare respiratory disease may also lead to some types of congenital heart disease, according to a study from the University of North Carolina at Chapel Hill School of Medicine.
The link between the two diseases starts with cilia, the tiny, hair-like extensions that help the lungs clear of mucus and remove contaminants such as dust. The researchers first noticed the connection in children with a respiratory disease that affects cilia, primary ciliary dyskinesia (PCD). A genetic mutation that impairs cilia movement causes the disease. A few children treated for PCD at UNC-Chapel Hill also had heterotaxy – an abnormal position of the heart and lungs associated with congenital heart disease.
The research team wondered if PCD and heterotaxy were related because other types of cilia, called nodal cilia, are known to play a role in directing and organizing organs in developing embryo. Results of the new study indicate they are connected.
The prevalence of heterotaxy and congenital heart defects was 200-fold higher in people with PCD than in the general population (one in 50 versus one in 10,000), the study found. The research appears in the June 5, 2007, issue of the journal Circulation.
“This should spur physicians treating patients with congenital heart disease to be more vigilant about testing for and treating respiratory defects,” said Dr. Michael R. Knowles, professor of pulmonary and critical care medicine and study senior author. “It is critical for families and physicians to recognize when congenital heart disease develops.”
Children with both heterotaxy and congenital heart disease typically undergo surgery to repair heart defects, and if they have respiratory complications after surgery, it’s often assumed that the cause is their heart problems, Knowles said. But the study indicates these children’s respiratory problems may also have an underlying genetic cause.”
Now, here’s a possible clue as to how heterotaxy and congenital heart disease occurs. What’s nice about this piece of information is it also allows me the knowledge to ask my cardiologist or pulmonary specialist or any doctor that can and will listen for testing for Justin. There are many types of genetic testing that may be done. But, if we not know what to ask for, we won’t get it.I would also like to note that I was never offered this information in the past year while dealing with Justin and his heart issues, while my friend over at Chloe’s blog has been offered some about it. So, it may be that this is not a widely recognized explanation to heterotaxy and congenital heart disease. Nonetheless, it is worth finding out if my child has respiratory disease that I should be aware of. Then, when a cold arises, I will be better equipped as to how to approach it.In more recent news, National Heart, Lung, and Blood Institute is sponsoring a study that will “examine genetic material obtained from blood and tissue samples of patients with CHD and heterotaxy to gain a better understanding of these disorders and of a lung disease called PCD. CHD is prevalent in patients with heterotaxy. It is believed that certain forms of CHD or heterotaxy may have the same genetic origin as PCD.” Read here to learn more.On the way to answers?
July 10th, 2008 at 8:10 am
I’m often amazed at how much and how little medical science knows about the conditions that affect us as humans. In all probability, even highly-motivated and up-to-date experts will have gaps in their knowledge.
I was surprised by how little my very seasoned and well-respected OB/GYN knew about molar pregnancy. It’s very rare, true, but he’s seen it before, and most of my questions met with, “I honestly don’t know,” or “I don’t remember.” I ended up learning most of what I needed to know by researching on my own.
I think this sort of thing — including your finding of this press release — is further proof that we always have to be healthcare advocates for ourselves and our loved ones. While we may not have the training and context that allow us to be experts, we are very often the ones who ask the right questions and persist until we get the answers we need from the people who know.
I still remember the laughter I got from the moment when my Dad’s Gastroenterologist asked me if I was “in the field,” after I asked some rather detailed questions about my Dad’s case. I told him “No, I just researched what I knew and did a lot of reading.” The laughter was his later when I betrayed my ignorance and he urged me to “get back to my reading.” Still, the point had been made. I wasn’t going to sit idly by and wait for someone to dole out little bits of information when I could possibly have a positive impact by asking questions or requesting a second look at something. Besides, it helped me to feel less helpless in the face of the suffering of someone I love and in the shadow of something much bigger than I was.
I hope this clue, whether or not it provides some insight into the particulars of Justin’s case, will keep you going on that path of discovery.
July 10th, 2008 at 7:25 pm
My daughter Chloe has attended a study at the NIH involving PCD and Heterotaxy. It is indeeded amazing.
Anabella
July 10th, 2008 at 11:45 pm
Nikki, I often wonder how my doctors feel when I come in with information. So, I don’t tell them what I’ve read or whatnot. I should have more courage to. I am often afraid that they’ll reject any information that I present to them because I am not a doctor. I’ve been told that doctors hate it that their patients research online because the internet is sometimes loaded with untrue information.
Anabella, I would love to know what you learned while you were at the study. Justin is not old enough to be a subject.