More families with cardiomyopathy may soon get IVF help

10th September 2015

More families affected by dilated cardiomyopathy may soon be eligible for IVF treatment to ensure their babies are not affected.

The Human Fertilisation and Embryology Authority (HFEA) is looking at whether to license pre-implantation genetic diagnosis (PGD) for families affected by mutations on the CMD1A gene.


Picture courtesy of Guy's Hospital embryologists

PGD is a technique that enables people with a specific inherited condition in their family to avoid passing it on to their children. It involves checking the genes of embryos created through IVF. Then only those embryos without the gene mutation are implanted in the mother’s womb.

The CMD1A mutations are particularly linked to electrical conduction abnormalities in the heart and muscular dystrophy.

The HFEA has already licensed PGD for dilated cardiomyopathy families affected by mutations on the Troponin T2 gene. It has also licensed PGD for families with hypertrophic cardiomyopathy caused by mutations on the MYBPC3 gene, and for families affected by arrhythmogenic right ventricular cardiomyopathy.

Cardiomyopathy UK and the Genetic Alliance UK, a charity representing over 150 patient organisations for those with genetic conditions, are making a joint submission to the HFEA in favour of the new licence.

PGD is designed to give families affected by a serious disease the chance to go through IVF and PGD if they know the gene mutation in their family causing the disease.

Before granting approval for a licence, the HFEA has to be satisfied that the mutations lead to a significant risk of a serious illness or disability.

Individual families make the application for a licence, supported by their PGD clinic. But once a licence is granted for a particular gene, other families with mutations on the same gene can proceed using the existing licence.

Members of the public can also have their say on the granting of licenses. If you have any feedback on the genetic conditions awaiting consideration by the HFEA, you can send the authority an email and your comments will be discussed at the next licence committee.

For more about the genetics of cardiomyopathy and PGD see here and for a family’s experience of PGD, see here.