New Study Finds Genetic Links between Fabry and a Common Heart Disease

Results of a new study identified genetic links between Fabry disease and hypertrophic cardiomyopathy (HCM), a common heart disease, providing information that can help clinicians improve identification and management of patients with Fabry disease. The data were presented by lead author Dana Doheny, MS, CGC, Icahn School of Medicine at Mount Sinai (ISMMS) Department of Genetics and Genomic Sciences, at the 64th Annual Meeting of the American Society of Human Genetics (ASHG) in San Diego, California on October 21, 2014.

The study was conducted by Ms. Doheny and Dr. Robert Desnick  at ISMMS in collaboration with three commercial laboratories that perform genetic testing for HCM, GeneDx (Gathersburg, MD), Harvard Medical School’s Laboratory for Molecular Medicine (Boston, MA) and Transgenomic, Inc. (New London, CT).

Researchers analyzed gene sequencing of more than 6,000 patients diagnosed with HCM and referred by cardiologists for gene testing to confirm if they had HCM, a relatively common inherited disease affecting 1 in 500 people, and whether they might have Fabry disease, the rare metabolic disorder that can cause similar heart manifestations. The results found that about 1.5% of the patients actually had unrecognized Fabry disease, not HCM, and there were patients who had both Fabry disease and HCM. These results are important in helping clinicians accurately diagnosis HCM and Fabry disease and ensuring patients benefit from optimal treatment.

The full abstract, “Autosomal Dominant Hypertrophic Cardiomyopathy (HCM) is an important modifier of the cardiomyopathy of Fabry Disease (FD): Implications for Galactosidase A replacement therapy,” is available online.

GDF funded Ms. Doheny’s attendance at the ASHG Annual Meeting, which is the largest human genetics meeting and exposition in the world and a forum for presentation and discussion of cutting edge science in all areas of human genetics.

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  1. I’m the grandmother of a child girl who has the POMPE DISEASE. she was diagnosed when she was six
    months due to heart problem and enlarged tongue. Now she is 4 years old and she is having every two
    weeks enzyne a-glygosidasy treatment at MAKARIOS HOSPITAL NICOSIA CYPRUS. She is doing quite well though due to face hypotonia needs speach therapist and physiotherapi as she is not walking quite well.