Background There are currently no UK data or guidelines concerning transthoracic echocardiogram (TTE) and paediatric cardiology referral from clinical genetic services in children, outside specific disorders. Current regional practice dictates nearly all paediatric patients seen by the clinical genetic team are referred for a cardiology review irrespective of examination or diagnosis.

Aim The main aim of this audit was to examine cardiology referrals from the regional genetics service to evaluate their appropriateness and ascertain if a local guideline could be developed to better select those cases requiring cardiology referral.

In particular, for each referral, we asked:

• Is there a known or suspected genetic diagnosis?

• Has the child had a cardiac examination and what were the findings?

• Is there documentation of the likelihood of finding a structural heart defect?

• What were the TTE findings in those referred?

Methods Paediatric patients were identified from all new referrals seen in the regional genetics service from April 2012 to February 2015. Patients with known or suspected Marfan or hypermobile Ehlers-Danlos syndrome, previously diagnosed cardiac abnormality, protected address, teratogenic exposure and those seen in the cardiac genetics service were excluded.

Results A total of 678 patients were identified: 71 were selected at random for analysis.

• 37/71 (52%) had a genetic diagnosis

• 47/71 (66%) had evidence of cardiac examination. 8 of which were abnormal

• ²9/66 (44%) were considered to be at high likelihood of having a TTE finding

• 64 (90%) children were referred for TTE: 44 were normal, 6 were awaited or failed to attend and 14 had a significant finding (eg ASD, Dilated Aortic Root, Pulmonary Stenosis)

• There was no correlation between examination findings, likelihood of heart disease and the final TTE findings

Discussion 22% of children referred to cardiology had significant findings on TTE. This compares to a reported background population rate of congenital heart disease of 1% and therefore the current practice of near automatic referral for cardiology from the genetic clinic appears to be appropriate. Our data would suggest it is currently not possible to accurately predict those cases most likely to have structural heart disease and reduce referrals to cardiology.