Dr. Alessandro Giardini
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If your baby has been diagnosed with a haemangioma, it is completely natural to feel concerned, particularly when the birthmark is large or sits on the face. The reassuring starting point is this: most haemangiomas are harmless, resolve over time, and need no treatment at all.
In a small but important number of children, however, a large or patterned haemangioma on the face, scalp, or neck can be the visible signal of something deeper. This is the condition known as PHACES syndrome, where the heart, major blood vessels, brain, and eyes may also be involved. Understanding which haemangiomas are completely benign and which require further investigation — including targeted cardiac screening — is the most important thing a specialist assessment can offer your family.
I regularly see infants and children with haemangiomas at Great Ormond Street Hospital and in private practice to support the cardiac aspects of their care.
A haemangioma is a benign tumour made up of abnormally proliferating blood vessels, affecting somewhere between 4 and 10% of infants — making it the most common tumour of childhood. It is not a cancer, it is not contagious, and in the vast majority of cases it causes no harm at all.
Haemangiomas are not usually visible at birth. They tend to appear in the first one to four weeks of life, often starting as a faint pale patch, a small red macule, or a subtle bruise-like area. Over the following months they grow rapidly, entering what is called the proliferative phase, and typically reach their maximum size somewhere between three and twelve months of age. After that, a slow and spontaneous shrinking process begins, the involution phase, which can take several years to complete fully. By around four years of age, approximately half of all haemangiomas have resolved. By age nine or ten, the majority have gone, sometimes leaving a small area of pale or mildly textured skin.
Haemangiomas are classified by their depth. A superficial haemangioma sits in the surface layer of the skin and looks bright red and slightly raised, with a bumpy texture that gives rise to the popular name "strawberry mark." A deep haemangioma lies in the lower layers of the skin and may appear as a soft blue or skin-coloured swelling with little redness on the surface. A mixed haemangioma has both components. The pattern of involvement also matters greatly: a focal haemangioma is a discrete, well-defined lump, while a segmental haemangioma is broad and plate-like, following a developmental territory of the face or body. It is the large, segmental type that carries the greatest significance for PHACES syndrome.
Haemangiomas are more common in girls, in premature babies, and in twins. Around 60% occur on the head and neck.
The large majority of haemangiomas are what doctors call isolated or simple lesions: they sit on the skin, grow for a few months, then slowly disappear. These are observed, not treated, and require no cardiac or internal investigation.
Certain features, however, increase the likelihood that a haemangioma is associated with underlying conditions, and they should always prompt specialist review:
A large size, typically over 5 cm, is the first important feature. A segmental pattern, covering a broad area of the face, scalp, or neck rather than appearing as a small round spot, is the second. Location on the face, particularly the central face, forehead, or scalp, raises concern further. Multiple haemangiomas on the body (five or more) require assessment for internal haemangiomas in the liver. Associated features such as feeding difficulty, noisy breathing, or poor weight gain, particularly when the haemangioma involves the jaw, neck, or lower face, also warrant prompt evaluation.
In any of these scenarios, doctors consider the possibility of PHACES syndrome.
PHACES is an acronym describing a rare condition in which a large, segmental haemangioma of the face, scalp, or neck is associated with developmental abnormalities in other parts of the body. The letters stand for:
P — Posterior fossa brain malformations
H — Haemangioma (large, segmental, of the face or neck)
A — Arterial abnormalities (of the brain, neck, or aorta)
C — Cardiac defects and aortic arch abnormalities
E — Eye abnormalities
S — Sternal or other midline defects
PHACES syndrome was first described in 1996 by dermatologist Dr Ilona Frieden, who recognised a consistent pattern of internal anomalies in infants presenting with large facial haemangiomas. It predominantly affects girls, with a female-to-male ratio of between four and nine to one, and is considered one of the most important neurovascular conditions of infancy. The diagnosis is clinical: there is no blood test or genetic test that confirms it. Instead, specialist imaging and assessment identify the internal components.
Most children with PHACES syndrome have only some of the features described in the acronym. A complete phenotype with all components is uncommon. The haemangioma on the skin is the visible clue that should trigger the search for internal abnormalities, and it is the reason why every infant with a large segmental facial haemangioma must be evaluated properly.
Studies suggest that around 31% of infants with a large segmental haemangioma on the face or scalp will have at least one feature of PHACES syndrome. That is roughly one in three. The internal features cannot be detected by looking at the skin alone. They require specific investigations and cardiac assessment is at the centre of that evaluation.
This is the area that I find parents are most often not told clearly enough, so I want to address it directly.
Children with PHACES syndrome have a significant risk of heart and major vessel abnormalities. The most common cardiac finding is coarctation of the aorta, a narrowing of the main artery that carries blood from the heart to the body along with other structural abnormalities of the aortic arch. Cardiac involvement, including both structural heart defects and aortic arch variants, is reported in around 20% of PHACES cases in some studies, though figures as high as 40% have been cited when all cardiovascular features are included. Other reported cardiac defects include ventricular septal defects (holes in the heart), atrial septal defects, and less commonly more complex abnormalities of the great vessels.
Coarctation of the aorta, if significant, forces the heart to work harder to pump blood past the obstruction. It causes elevated blood pressure in the upper body and reduced flow to the lower body and legs. In its severe form it can cause heart failure in early infancy. In milder forms it may be entirely silent for months, discovered only on cardiac assessment. Once identified, coarctation can be treated very effectively by surgery or a catheter-based procedure with excellent long-term results in specialist centres. The key is finding it early.
Beyond the heart itself, arterial abnormalities affecting the blood vessels of the brain and neck are the most frequent extracutaneous finding in PHACES syndrome, present in the majority of affected infants. These vascular changes matter enormously because a small proportion of children with severe arteriopathy are at risk of arterial ischaemic stroke, particularly in the first two to three years of life. This is why neurological assessment and MRI of the brain and neck vessels are part of the standard PHACES work-up, alongside the cardiac echocardiogram.
There is also a direct connection between cardiac anatomy and the treatment of the haemangioma itself. Propranolol, the standard first-line medication used to shrink infantile haemangiomas, lowers blood pressure and heart rate. In a baby who has unrecognised coarctation of the aorta or critical arterial disease, giving propranolol without prior cardiac evaluation carries a real risk. Cardiac screening before starting treatment is not optional: it is a mandatory part of responsible management in any infant with a large segmental facial haemangioma.
Cardiac assessment in infants is straightforward, non-invasive, and does not require sedation in most cases.
The central investigation is an echocardiogram, an ultrasound examination of the heart and great vessels, using the same technology as a standard pregnancy scan. It allows full assessment of the heart's structure, the anatomy of the aortic arch, the presence or absence of coarctation or septal defects, and the function of the heart muscle and valves. The examination is painless and takes around 30 minutes in a young infant. I perform echocardiographic assessments for infants referred with suspected PHACES syndrome in both NHS and private settings, and provide a detailed written report to guide the multidisciplinary team.
An ECG (recording of the heart's electrical activity) is also obtained, though it is usually normal in PHACES syndrome and is primarily used to exclude other conditions.
Where echocardiography raises concerns about the aortic arch or great vessels, cardiac MRI provides more detailed anatomical information without radiation exposure.
MRI and MR angiography (MRA) of the brain and neck are essential to map the cerebral arteries and assess for posterior fossa brain abnormalities. These require a brief period of sedation in young infants and are coordinated by the multidisciplinary team.
Ophthalmological assessment looks for eye abnormalities associated with PHACES syndrome, including optic nerve abnormalities and structural changes to the retinal vessels.
In summary: the aim of this process is not to search for problems unnecessarily, but to provide clarity. Most infants evaluated for PHACES syndrome will have a normal echocardiogram. When abnormalities are found, early identification allows early treatment and better outcomes.
Not every baby with a haemangioma needs a heart scan. The following is a practical guide to when specialist referral and cardiac assessment are appropriate.
A small, localised haemangioma in a baby who is feeding normally, growing well, and has no other concerns requires routine monitoring only. These lesions do not need cardiac assessment unless medical treatment with Propranolol is considered.
A large facial or scalp haemangioma measuring over 5 cm, particularly if segmental in pattern, should prompt referral for specialist evaluation, including echocardiography, before any systemic treatment is initiated. This applies even if the baby appears entirely well.
Any baby with a large haemangioma and associated symptoms (feeding difficulty, noisy breathing, failure to thrive, or any cardiac murmur detected on examination) should be assessed urgently.
A baby with any of the following requires immediate medical attention: blue or dusky lips or tongue, laboured or rapid breathing, poor feeding combined with lethargy or pallor, or collapse. These can be signs of severe cardiac disease, including critical coarctation of the aorta, and are a medical emergency.
Treatment of a straightforward haemangioma is needed only when it threatens function (vision, breathing, feeding), causes ulceration, or is large and segmental in the head and neck region, prompting PHACES evaluation. The great majority are observed and left to involute naturally.
When treatment is indicated, oral propranolol is the first-line therapy. It works by constricting the abnormal blood vessels within the haemangioma and suppressing further growth. Many parents notice a visible softening and lightening of the haemangioma within the first 24 to 48 hours of treatment, which can be remarkably reassuring. Treatment is typically continued until around nine to twelve months of corrected age, adjusted individually based on the response.
In PHACES syndrome, propranolol can be used in most infants, but only after comprehensive cardiac and vascular evaluation has been completed and risk has been appropriately stratified. For the small number of infants in whom the severity of cerebral arterial disease makes propranolol too high a risk, alternatives are discussed with the specialist team on an individual basis.
For small, superficial haemangiomas where systemic treatment is not justified, topical timolol gel applied directly to the lesion twice daily is a useful alternative. This is undertaken under the care of a dermatologist.
Where PHACES syndrome is confirmed, each component is addressed individually by the relevant specialists. Significant coarctation of the aorta is treated by surgery or catheter-based intervention, with outcomes that are generally excellent when performed in experienced centres. Neurological monitoring continues for children with cerebrovascular anomalies. Ophthalmological follow-up protects vision where amblyopia is a risk. Throughout this process, the cardiologist remains a central part of the team.
The emotional impact of a large facial haemangioma on a family in the first months of a baby's life should never be minimised. Parents frequently experience significant anxiety, and the appearance of a rapidly growing birthmark on a newborn's face can be distressing in ways that are difficult to articulate.
The vast majority are entirely harmless and resolve naturally over time. Only a small proportion are associated with internal conditions such as PHACES syndrome. Whether further investigation is needed depends on the size, pattern, and location of the lesion, along with any associated symptoms.
PHACES syndrome is a rare condition in which a large birthmark (haemangioma) on the face or scalp is linked with abnormalities of the brain, the blood vessels supplying the brain, the heart and main arteries, and sometimes the eyes. The name is an acronym of the body systems potentially involved. It does not follow a standard pattern of inheritance and cannot be detected by a gene test.
No. Small, focal haemangiomas in well babies do not require cardiac assessment. A heart scan (echocardiogram) is recommended when the haemangioma is large, segmental, and located on the face or scalp, because these features are associated with PHACES syndrome. Cardiac screening is also essential before starting propranolol treatment in this group.
PHACES syndrome is rare in the general population, but studies suggest that around 31% of infants with a large segmental haemangioma on the face or scalp have at least one feature of the syndrome. It is more common in girls, with a female-to-male ratio of around four to one or higher.
The most common cardiac finding is coarctation of the aorta, a narrowing of the main artery leaving the heart. Abnormalities of the aortic arch, ventricular septal defects, and atrial septal defects are also reported. All are identifiable on echocardiogram.
Yes. Echocardiography is completely safe, painless, and uses no radiation. It involves the same ultrasound technology used in pregnancy scans, adapted for use in infants.
In most cases, yes. Propranolol remains the first-line treatment for infantile haemangiomas in PHACES syndrome, but it must only be started after a thorough cardiac and vascular assessment. A large multicentre study of 76 infants with PHACES syndrome treated with propranolol found no strokes or serious cardiovascular events during treatment. Specialist evaluation beforehand is essential.
Most haemangiomas shrink significantly over time, with around half fully resolved by age four and the majority by age nine or ten. Propranolol treatment speeds up this process and prevents complications during the growth phase. The decision about whether treatment is needed is made individually, taking location, rate of growth, and any complications into account.
Yes, in specific circumstances. Haemangiomas involving the jaw, lower face, neck, or airway, sometimes called the "beard distribution", can be associated with subglottic (airway) involvement and may cause noisy breathing or feeding difficulties. These children need prompt specialist assessment, including assessment of the airway.
Author: Dr. Alessandro Giardini, MD, PhD
Written 03/05/2026