Birthmarks and heart defects?
September 29, 2015 8:10 AM Subscribe
My son's cardiologist seemed very interested in his birthmarks - why?
My three year old son has a ventricular septal defect, also known as a heart murmur. He saw a pediatric cardiologist a few times as a baby and we were told to bring him back for a follow-up visit when he was about three, which we did yesterday. He is doing fine and is asymptomatic, we were told no restrictions and to bring him back again when he is five. But the cardiologist seemed quite interested in a "cafe au lait" birthmark on his leg... She asked us if it has been there since birth (yes) and if he has any others (yes, one other, also on his leg). She seemed satisfied with our answers. I should have asked her at the time why she was interested in his birthmarks, but I didn't think to and it's not important enough to call her and ask. I'm just curious. Googling turned up nothing, so I'm turning to the hivemind - any idea why a birthmark could have any relevance to a heart defect? I'm assuming that the murmur and the birthmarks together could be symptoms of something, but I can't figure out what.
My three year old son has a ventricular septal defect, also known as a heart murmur. He saw a pediatric cardiologist a few times as a baby and we were told to bring him back for a follow-up visit when he was about three, which we did yesterday. He is doing fine and is asymptomatic, we were told no restrictions and to bring him back again when he is five. But the cardiologist seemed quite interested in a "cafe au lait" birthmark on his leg... She asked us if it has been there since birth (yes) and if he has any others (yes, one other, also on his leg). She seemed satisfied with our answers. I should have asked her at the time why she was interested in his birthmarks, but I didn't think to and it's not important enough to call her and ask. I'm just curious. Googling turned up nothing, so I'm turning to the hivemind - any idea why a birthmark could have any relevance to a heart defect? I'm assuming that the murmur and the birthmarks together could be symptoms of something, but I can't figure out what.
Best answer: Cafe au lait spots can be a marker for neurofibromatosis, which is a relatively common genetic condition that also causes a number of other manifestations including skin and bone abnormalities and neurologic issues, . It doesn't seem to be typically associated with VSDs, although there are a few case reports. VSDs are not uncommonly associated with other genetic syndromes, so your cardiologist might have been wondering if he had either NF or a different genetic syndrome. If he did, it would be important to know which syndrome so that you would know if he was at risk for any other complications.
Kids can also have both VSDs and a couple of cafe au lait spots without having any genetic syndrome, but I can see why his cardiologist might have been interested.
posted by The Elusive Architeuthis at 8:37 AM on September 29, 2015 [10 favorites]
Kids can also have both VSDs and a couple of cafe au lait spots without having any genetic syndrome, but I can see why his cardiologist might have been interested.
posted by The Elusive Architeuthis at 8:37 AM on September 29, 2015 [10 favorites]
Best answer: On preview, Elusive beat me to it, but here are some links you might find useful.
Cafe au lait spots can be a sign of Neurofibromatosis (but usually not unless you have 6 or more), which in turn can be associated with heart defects. Google "neurofibromatosis heart" and you'll find more about the relationship, such as. It sounds like the doctor noticed the spot, asked if there were others, and was unconcerned when told there were only two.
posted by beagle at 8:43 AM on September 29, 2015
Cafe au lait spots can be a sign of Neurofibromatosis (but usually not unless you have 6 or more), which in turn can be associated with heart defects. Google "neurofibromatosis heart" and you'll find more about the relationship, such as. It sounds like the doctor noticed the spot, asked if there were others, and was unconcerned when told there were only two.
posted by beagle at 8:43 AM on September 29, 2015
Maybe Watson Syndrome (associated with neurofibromatosis)? It's very rare, though.
posted by thetortoise at 8:44 AM on September 29, 2015
posted by thetortoise at 8:44 AM on September 29, 2015
Getting a little bit more detailed, neural crest cells are the precursors during embryonic development that go on to form a lot of structures of the heart as well as melanocytes, the cells that give skin their pigmentation. It's a fairly common "gotcha" question in medical school and on board exams that differences in skin pigmentation can be a sign of defects in other systems with similar developmental origins (heart, thyroid, etc).
posted by telegraph at 9:19 AM on September 29, 2015 [2 favorites]
posted by telegraph at 9:19 AM on September 29, 2015 [2 favorites]
LEOPARD syndrome is also associated with cafe-au-lait birthmarks & cardiac effects (also very rare). I see it's already been explained very well though!
posted by bighappyhairydog at 12:17 PM on September 29, 2015
posted by bighappyhairydog at 12:17 PM on September 29, 2015
I work for a doctor who sees rule-out neurofibromatosis patients at least 3 times per week. Generally, the accepted "beginning" criteria is having more than 6-7 cafe-au-lait spots before the NF diagnosis is considered. Be aware that there are some kids who don't start developing more CAL spots until 9-10 years of age.
posted by kuanes at 2:22 PM on September 29, 2015
posted by kuanes at 2:22 PM on September 29, 2015
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It is a type of mole that is generally fine if it's been there forever unchanged. But if something that looked like it popped up all of a sudden? That would be cause for a biopsy and cancer screen.
posted by slateyness at 8:35 AM on September 29, 2015