More families with cardiomyopathy can now benefit from special IVF treatment

16th August 2016

Families affected by cardiomyopathy due to changes on the MYH7 gene are now eligible for IVF treatment to ensure their babies are not affected.

The Human Fertilisation and Embryology Authority (HFEA) has licensed pre-implantation genetic diagnosis (PGD) for families who have dilated cardiomyopathy (DCM) co-existing with left ventricular noncompaction (LVNC5), which is caused by a mutation in the MYH7 gene. 

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.

                                                                                                   Picture courtesy of Guy's Hospital embryologists

The new PGD licence is the latest in a series of licences granted in the last few years for genetic changes that cause cardiomyopathy. The HFEA has already licensed PGD for dilated cardiomyopathy families affected by mutations on the Troponin T2 gene and in the Lamin A/C 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.  A decision on a licence for Danon disease, a rare disease that causes cardiomyopathy, is awaited.

Danon disease causes muscle weakness – including heart muscle –and can also affect mental abilities. Men tend to be more severely affected, showing symptoms in childhood or adolescence. Most also have hypertrophic cardiomyopathy, but some may have dilated cardiomyopathy. Women tend to get the disease later and develop hypertrophic or dilated cardiomyopathy more equally. People with the disease may suffer from heart failure and electrical problems.

Cardiomyopathy UK and the Genetic Alliance UK, a charity representing over 150 patient organisations for those with genetic conditions, have made joint submissions to the HFEA in favour of new PGD licences for families with gene mutations causing cardiomyopathy.

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.

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