Patent foramen ovale: genetic link?

[dmartien]

There have been many discussions on this board (and elsewhere) about the condition patent foramen ovale (PFO) and its link with DCS. Post 3 in this thread is a good start for information on this topic: http://www.scubaboard.com/showthread.php?threadid=40141&s=

There are two questions that I have not found answers to when perusing these discussions:

1. Is there a genetic predisposition to PFO? My uncle died in surgery at the age of 9 to correct a rather severe PFO (probably bad enough to be considered an atrial septal defect.) Am I more likely to have a PFO as a result? If so, I guess it would be recommended that I get the echocardiogram! I've been diving for 7 years now with no apparent DCS, but I'd like to be cautious.

2. How does one decide to use the information from an echocardiogram test. If a PFO is found, does one stop diving altogether? Or just dive more conservatively? Get corrective surgery? I guess a consultation with a good cardiologist would be required.

Thanks for any information you can provide!

 

[lragsac]

There have been many discussions on this board (and elsewhere) about the condition patent foramen ovale (PFO) and its link with DCS. Post 3 in this thread is a good start for information on this topic: http://www.scubaboard.com/showthread.php?threadid=40141&s=

There are two questions that I have not found answers to when perusing these discussions:

1. Is there a genetic predisposition to PFO? My uncle died in surgery at the age of 9 to correct a rather severe PFO (probably bad enough to be considered an atrial septal defect.) Am I more likely to have a PFO as a result? If so, I guess it would be recommended that I get the echocardiogram! I've been diving for 7 years now with no apparent DCS, but I'd like to be cautious.

2. How does one decide to use the information from an echocardiogram test. If a PFO is found, does one stop diving altogether? Or just dive more conservatively? Get corrective surgery? I guess a consultation with a good cardiologist would be required.

Thanks for any information you can provide!

First my disclaiimer: I'm not a physician. I just read a lot (mostly from peer-reviewed medical journals) and have had some personal "medical experiences" which have spurred my interest in these kinds of topics. In my reading, I haven't come across anything that suggests PFO is inherited. However, having a PFO, which is a congential abnormality, can apparently predispose you to stroke, and, as you mentioned, DCI. Also, there is evidence to suggest a common genetic background predisposing one for both PFO and migraine.
In response to your second question, I think that is something that is most certainly a decision that you and your healthcare providers must make together. I am a strong believer in getting as educated as possible about one's medical condition and in working with your physician(s) as a team. There is a lot that is just not known for certain when it comes to diving, so the best you can do is learn all you can, seek the most knowledgeable providers, and make an informed decision based on how much risk you are willing to accept. If your answer is zero, then stop diving. If your answer is "a little", then maybe you adjust your profiles to be very conservative.
BTW, if you see a cardiologist and want to get tested for a PFO, the gold standard test is a transesophygeal echocardiogram (w/ contrast bubble study).

 

[GoBlue!]

In the last few years, there have been many papers reporting various genetic mutations that have led to different types of congenital heart anomalies. Nothing is primetime yet. What you're really concerned about is whether or not the presence of a PFO is inherited in an autosomal dominant fashion; that, we simply don't know.

One point re: the last post, I'm not sure that there is much evidence suggesting a common genetic predisposition between migraine & PFO. There is increasing evidence of an association, but I haven't yet seen causality or a genetic basis implicated. Although, I readily admit that this is far outside my expertise & I don't spend much time reading the neurology literature.

Jim