Heterotaxy w/diabetes insipidus?

[rjthkids]

My youngest child was born 28 days ago with multiple congenital issues, including from a cardiac standpoint: CAVC, D-TGA, RAA, bilateral SVCs, Interrupted IVC, and mild pulmonary stenosis. Currently right now she is having issues with mild pulmonary overcirculation (O2 saturations running from 95%-100%, fluid seen on x-ray, and tachypnea).

Adding a complicating wrench into everything is the fact that she was diagnosed earlier this week with Diabetes Insipidus, and has numerous issues with keeping her sodium levels under adequate control (they have been persistently in 171-176) and maintaining an appropriate fluid balance and replacing her excessively high urine output. Because she also has cleft lip and palate, a head MRI was done that showed an absent septum pellucidium but a normal pituitary gland and otherwise normal MRI (there were concerns about optic nerve hypoplasia, which was ruled out). She also has right sided hemi-facial microsomia with a missing right ear and post-op for a Ladd's procedure for malrotation.

Currently, her cardiology team is concerned that part of the reason her pulmonary overcirculation has been mild up until this point is because her untreated DI has meant she has been voiding such a large fluid volume, and that in getting her DI appropriately managed and her urine volume to decrease, it will make her pulmonary edema significantly worse. Adding diuretics becomes complicated because of the need to manage her endocrine needs. She is currently in the CICU.

My question to you is: how often is a combination of heterotaxy and diabetes insipidus seen? Is this combination of issues something cardiologists are in general familiar with? How closely to do I need to manage the communication between endocrinology and cardiology? Who will fundamentally be the ones responsible for managing her fluid balance--- cardiology or endocrinology? She has also not gained any weight since birth--- is that a cardiac or endocrine issue, or both?

[rjthkids]

She has had multiple genetic tests, including karotyping, chromosomal micro-array, and specific breakage testing for certain rare disorders, all of which have come back normal. It is believed that her DI is central as opposed to nephrogenic. The neurologist has cleared her head MRI w/contrast as a normal variant and she does have a full pituitary gland.

Thank you for your feedback, as it reinforces my understanding that who we choose as a long term endocrinologist will be very, very important for her overall management and care.

[Marie M Gleason, M.D.]

It sounds like your child has a very complex medical situation.  Whenever there are multiple medical problems like this, one has to be concerned about genetic anomalies.  Has your child had genetic testing?  Regardless, when it comes to the issue of who will be "in charge" if the fluid balance. I think it will need to be a joint venture with the endocrinologists being the primary managers.  Diabetes insipidus is a rare pediatric condition, and is not commonly seen in conjunction with congenital heart disease/ heterotaxy syndrome, so the pediatric cardiologist is very unlikely to feel comfortable managing this serious problem.  The fact that there are central nervous system abnormalities suggests that the DI could be centrally mediated as opposed to a primary renal (kidney) problem.  Once the endocrinologists have better control of the DI, then the cardiologists will have a better idea of how much diuretic will be needed.  Of course, simultaneously with this, the lungs will be relaxing and by nature, more blood flow will start to circulate to the lungs. Clearly there will need to be ongoing communication between both services.  If the joint management of diuretics becomes too complicated then surgery to place either a pulmonary artery band or some other palliative procedure may be needed to prevent too much blood flow to the lungs. This might make the management of diuretics easier. The absence of weight gain here is a difficult question to answer:  if there is uncontrolled DI, that could be the issue; if there is too much pulmonary blood flow, that could be the issue; and if the child is syndromic, that could be the issue.  Likely there is a component of all 3 things here.  Maximizing caloric intake will be key.  It sounds like there is a complex road ahead.  Best of luck.