Coarctation of the aorta

Coarctation of the aorta can be diagnosed antenatally through ultrasound scanning. Diagnosis can be challenging, so where there is suspicion of a cardiac anomaly, a referral should be made to a specialist paediatric cardiology service for assessment.

Figure 1 indicates the anatomical change in coarctation of the aorta.

Figure 1: Coarctation of the aorta

Clinical features may include:

• poor feeding;
• lethargy;
• tachypnoea;
• congestive heart failure;
• differences between the upper and lower limbs, such as:
  • delayed pulse in the lower limbs (radiofemoral delay);
  • blood pressure discrepancies between the upper and lower limbs (for example, the upper limbs might experience hypertension while the lower limbs experience hypotension or normal blood pressure);
  • skin of the upper body appearing pink in colour, while the lower body is cyanotic; and
  • heart murmur, specifically a systolic murmur in the left infraclavicular area. If patients present later in life, it is often with a systolic or continuous murmur or hypertension.

Genomic testing should be considered, as a number of cases of coarctation will be associated with underlying Turner syndrome (45XO). The majority of cases, however, are not associated with an identified genetic cause.

The recurrence risk following an affected pregnancy is around 1 in 200 (or 0.5%). Where a congenital heart anomaly is detected, there is overall a 1% chance of having a further pregnancy or child with congenital heart disease (which may be a different form of congenital heart disease to that of the previous child).

Parents who have a child diagnosed with Turner syndrome have a slightly greater recurrence risk (just over 1%) of having a further pregnancy with the condition.

If the baby has a severe form of coarctation of the aorta, surgery will be offered in the first few days of life and several techniques may be used:

• removing the narrowed section of the aorta and anastomosing the two ends;
• balloon angioplasty or stenting; and
• surgical angioplasty with grafts.

Diuretics and inotropes are used to treat congestive heart failure, if it occurs.

For parents with a child diagnosed with Turner syndrome or a complex congenital heart anomaly, a fetal echocardiogram should be offered during any future pregnancies, depending on local protocols.

For clinicians

• Fetal Medicine Foundation: Ultrasound demonstration coarctation of the aorta
• NHS England: National Genomic Test Directory

For patients

• British Heart Foundation: Understanding your child’s heart: Coarctation of the aorta
• Great Ormond Street Hospital for Children NHS Foundation Trust: Information for families: Coarctation of the aorta (PDF, three pages)
• Turner Syndrome Support Society