Over 50 years ago, very close friends had a seemingly healthy and beautiful 6-week-old girl who became suddenly ashen and stopped breathing. Her father, then a surgery resident, saw she was unresponsive and tried to resuscitate her to no avail. An autopsy confirmed hypoplastic left heart syndrome (HLHS). The family is devastated to this day; Dad changed his career to become a nationally respected congenital heart surgeon (now retired), and Mom has dedicated her life to helping others in a myriad of ways.
Back then, if we could make the diagnosis (usually with cardiac catheterization), we had nothing to offer other than helping parents decide where to let their child die. As nicely documented in this article by Javed, et al, the Mayo group shows that we can use fetal echocardiogram to diagnose and even direct fetal treatment to the unborn, follow the fetal development, and plan neonatal strategies. If not diagnosed early, the mandatory pulse oximetry screening helps send up a red flag that the child needs emergent cardiac consultation, where an echocardiogram can definitively diagnose the situation. (Echo was not available at the time the above-mentioned child was born.) Once diagnosed, we start PGE1 to maintain ductal patency (again not available then) and if needed, open the atrial defect at Cath where a stent can be placed (not even thought of then). This stabilizes the infant toward a stage I operation (not available then). This surgery should only be performed by an experienced surgeon at a center that can provide full care and has a large volume of successful outcomes for this complex patient population.
Once the patient is discharged after the stage I operation, the child is very brittle, susceptible to stresses, even crying, much less dehydration or respiratory disorders that can even lead to cardiac arrest. During this stage it is incumbent on the primary care physician to be ultra-diligent and overreactive. Most families now have home monitoring and direct contact with a tertiary care single ventricle team, but again, as the primary care physician, you will likely see the patient first. Your role is clearly detailed in this article and deserves reading and re-reading.
This is not the patient in whom vaccinations, including RSV prophylaxis, should be deferred. Exposures to unvaccinated children who are ill or exposed to preventable diseases should be avoided. Life gets better after the stage II operation, but this population is still at high risk.
Much work has been done regarding the neurocognitive development in this group of patients. Besides surgeries, possibly poor perfusion in the neonate and even in the fetus are factors. Any illness can result in episodes of hypoxia and reduced cerebral under perfusion. The same applies to coronary circulation, possibly explaining why some patients have such poor right ventricular (systemic) function and tricuspid regurgitation, often leading to the need for transplantation.
HLHS if one of the most studied types of congenital heart disease, yet we know so little about it. Is there an operation better than the Norwood? Do patients who had the Sano operation have late RV aneurysms and scarring at the site of the conduit placement? How many patients have retrograde supra-ductal “coarctation” that may go undetected and lead to CNS and coronary hypoperfusion? What is the status of the gut and kidneys? After palliation stage III (Fontan) operation, a new set of morbidities can emerge including plastic bronchitis, hepatocellular carcinoma, gut protein loss, and on.
We have a lot to learn. In the meantime, we can certainly offer more to families than my friends experienced. Nonetheless, the diagnosis is devastating, and the impact on families is greater than we ever appreciate. This is where you, their trusted primary physician can be of greatest service.
Last, COMMUNICATE any (even seemingly minor) concerns to the cardiology team who shares your care of the very fragile patient. It may save a life.
