Screening for Congenital Heart Disease in First Degree Relatives


Reviewed by Salim Aftimos and Tom Gentles (PCCS)
Clinical Guidelines Back Newborn Services Home Page

The baseline prevalence of congenital heart disease (excluding PDA in preterm infants, mitral valve prolapse, and biscuspid aortic valves) is approximately 0.5-0.8% of all live-births.

The recurrence risk for siblings of children with congenital cardiac malformations have been variably estimated in the region between 1% and 4%, provided there is no strong family history of that particular malformation. The risk is higher in first degree relative  where the lesion is Hypoplastic Left Heart Syndrome (HLHS, 19.3%) and coarctation of the aorta (9.4%). 1 The most common finding in relatives was of a bicuspid aortic valve (BAV), but some individuals had significant left-sided obstructive lesions including HLHS and coarctation.

If a neonate is born who has a first degree relative (parent or sibling) who has been diagnosed with HLHS, coarctation, or BAV:


Number  Details
  • Cardiac Fellow / Registrar on Call

021 986945

  • Clinical Charge Nurse
021 332861
  • Ana Kennedy -Nurse Practitioner
021 774606
  • Heather Spinetto - Nurse Specialist
021 983986
  • Marian Hamer - Nurse Specialist
021 614348
  • Rosalie Charman

See also the management of antentally diagnosed congenital heart disease

1 Loffredo CA, Chokkalingam A, Sill AM, Boughman JA, Clark EB, Scheel J, Brenner JI.  Prevalence of congenital cardiovascular malformations among relatives of infants with hypoplastic left heart, coarctation of the aorta, and d-transposition of the great arteries.  Am J Med Genet 2004 Jan 30;124A(3):225-30.