Managing Brain and Heart Health

While the red birthmark is the most visible part of PHACE, the most important parts for your child’s long-term health are the blood vessels of the brain and the heart. Because these structures develop at the same time as the skin, they can have unique “detours” or narrowings that require careful, long-term monitoring by specialists ^[1][2].

Brain Blood Vessels (Cerebrovascular)

The “A” in PHACE stands for arterial anomalies. In the brain, these can include vessels that are narrow, twisted, or even missing.

• Arteriopathy: This is a general term for a disease of the arteries. In about 29% of children in long-term studied cohorts with PHACE, these vessel differences can be “progressive,” meaning they change or narrow further as the child grows ^[3][4].
• Moyamoya: In about 7% to 9% of cases within these cohorts, the brain’s main arteries narrow so much that the body tries to grow a “puff of smoke” of tiny, fragile backup vessels to compensate ^[3][5].
• Stroke Risk: Hearing about brain vessel issues is frightening, but it is important to know that actual strokes are rare in PHACE syndrome, occurring in only about 2% of children in studied cohorts ^[5][3]. Most children with these vessel differences lead healthy, active lives ^[3].

For children with clinically significant or demonstrated impaired cerebral perfusion, surgeons may consider a cerebral revascularization (such as a pial synangiosis). This individualized procedure helps bring a new, healthy blood supply to the surface of the brain to prevent future issues ^[6][7].

Heart and Aorta (Cardiac)

The most common heart issue in PHACE is coarctation of the aorta, a narrowing of the large vessel that carries oxygen-rich blood to the rest of the body ^[2]. However, the narrowing in PHACE is often more “complex” and longer than a typical coarctation ^[8][9].

• Surgical Repair: If the narrowing is significant, a cardiovascular surgeon will perform a reconstruction. This may involve using a patch or a graft to widen the vessel so blood can flow freely ^[8][10].
• Recurrence: Because the body continues to grow, and depending on the underlying vessel disease, recurrent obstruction can occur. About 40% of children who have this heart surgery in small series developed a “re-narrowing” (recurrent obstruction) later in childhood ^[8]. This doesn’t necessarily mean the first surgery failed; it often means the repaired area hasn’t grown at the same rate as the rest of the child’s body ^[8][11]. Lifelong blood-pressure monitoring and assessment is necessary after coarctation repair.

The Importance of Individualized Surveillance

Because these blood vessel changes can evolve over time, your child will need a “roadmap” of imaging that follows them into adulthood.

1. Baseline Imaging: Detailed MRI/MRA and echocardiograms are done at diagnosis ^[1].
2. Regular Follow-ups: Even if the first scans look good, doctors may repeat them periodically to catch any “silent” changes in the arteries before they cause symptoms ^[3][12]. Normal baseline findings may lead to less intensive follow-up. Repeat pediatric MRI may involve sedation and contrast.
3. Multidisciplinary Care: Your child should be seen by a team that includes a neurologist (for the brain) and a cardiologist (for the heart) who are familiar with PHACE, as the management is different than for other heart or brain conditions ^[2][13].

While these internal differences require extra attention, most children with PHACE do very well when their health is managed proactively by an experienced medical team ^[3][8]. Do not impose activity restrictions unless the cardiology or neurology team recommends them.