Cardiovascular Genetics and Development

Cardiovascular Genetics and Development

Manchester hosts a nationally-recognised service for patients with familial sudden death syndromes based around a joint cardiology/clinical genetics initiative at CMFT.

In 2010 a group, chaired by Professor Garratt, published the first specific  guidance on indications for implantable defibrillators in these conditions. This,  together with an earlier paper on indications for genetic testing, forms the  core reference material for operation of Inherited Cardiac Conditions Clinics  nationwide. Current research is focused on the development of novel genetic  testing strategies in the evaluation of young sudden death victims (Newman)  and the appropriate selection of young patients for the newer generation of  implantable defibrillators.

 

Professor Keavney’s group recently conducted the world’s first genome-wide  studies of congenital heart disease; their findings suggest that the application of  next-generation sequencing technologies to detection of copy number and single  nucleotide genetic variation may be of benefit in individualised risk stratification  of high-risk families. We plan to test this in collaboration with investigators in  the Human Development domain and Adult Congenital Heart Disease service at  CMFT, which is an integrated service spanning Greater Manchester and the North  of England. This service has led to a demonstrably much improved diagnostic  and therapeutic service, with noticeable firsts with percutaneous pulmonary and  mitral valve implants.


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