Cardiologist specialised in Marfan syndrome and other inherited conditions with cardiovascular involvement which require a multidisciplinary approach to treatment
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From the multidisciplinary teamwork we have undertaken at the Hospital Universitario Virgen de la Victoria Marfan Unit we have learned the importance of genetic testing for Marfan syndrome patients, not only to confirm the condition, for early diagnosis of family members and for family planning, but also for prognosis, healthcare management of patients with the condition and carriers of a fibrillin-1 (FBN-1) gene mutation.
The group that I lead published the article "The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome" in the prestigious international journal Orphanet Journal of Rare Diseases. This article showed the importance of the correlation between alterations in the gene fibrillin-1 with physical alterations, illustrating that FBN-1 mutations of different types and in different locations give rise to symptoms that are more or less aggressive. This allows identification of the people who will need more frequent check-ups due to a more aggressive development, or those who will be more unlikely to show complications in follow-up, with the corresponding implications for patient care. This research was the result of the joint effort of cardiologists, cardiovascular surgeons and geneticists, the support of an ophthalmologist (Dr. Rafael Luque Aranda) and a rehabilitation expert (Dr. Adela Gómez), in addition to the collaboration of IMIBA, the Biomedical Research Institute of Malaga and CIBERCV.