Genes in HLHS version3
Research type
Research Study
Full title
Finding the genes that cause hypoplastic left heart syndrome (HLHS)
IRAS ID
184830
Contact name
Bill Chaudhry
Contact email
Sponsor organisation
Newcastle upon Tyne Hospitals Foundation Trust
Duration of Study in the UK
14 years, 8 months, 28 days
Research summary
Hypoplastic left heart syndrome (HLHS) is a rare form of congenital heart disease (CHD) in which the main pumping chamber, heart valve and blood vessel supplying blood to the body are extremely underdeveloped. The genes involved are not known but there is an 8% risk of recurrence in family members and a 20% chance of having another similar heart defect. Many pregnancies are terminated following an antenatal ultrasound diagnosis and babies that are born will need repeated major surgeries. This study will identify families where several members are affected by HLHS and CHD and try to identify mutated (altered) genes that are common to all affected family members. These candidate genes will be analysed in the laboratory to see if they can cause HLHS. We will be alerted to families through the Fetal Medicine or Paediatric Cardiology Departments and they will be invited by their clinicians to meet and tell us about their family histories. We will interview participants in the Paediatric Cardiology, Fetal Medicine or Genetics clinic rooms or by phone if more convenient. Key individuals will be asked to provide DNA and some may be offered a heart scan to check for similar silent heart problems, e.g. a bicuspid aortic valve. The study itself will continue for more that 15 years, but actual contact with each participant family will be over a few weeks. We disseminate findings through scientific publication, the patient support group, Little Hearts Matter, and via a web site. Finding the genes that cause HLHS will help design genetic tests for early diagnosis and opens up the possibility of treatments to prevent heart defects in these high risk groups.
We will also review HLHS heart scans and case notes to understand the anatomy of HLHS and if there are other associated malformations.REC name
North East - Newcastle & North Tyneside 1 Research Ethics Committee
REC reference
15/NE/0242
Date of REC Opinion
28 Jul 2015
REC opinion
Unfavourable Opinion