• Medicina clinica · Jun 2014

    Case Reports

    Comprehensive clinical evaluation of a large Spanish family with Anderson-Fabry disease, novel GLA mutation and severe cardiac phenotype.

    • Irene San Román-Monserrat, Victoria Moreno-Flores, David López-Cuenca, Elena Rodríguez-González-Herrero, Encarna Guillén-Navarro, Beatriz Rodríguez-González-Herrero, Marisol Alegría-Fernández, Gabriela Poza-Cisneros, Juan A Piñero-Fernández, Javier Sornichero-Martínez, and Juan R Gimeno-Blanes.
    • Servicio de Medicina Interna, Hospital Clínico Universitario Virgen de la Arrixaca, El Palmar, Murcia, Spain. Electronic address: irene.sanroman@gmail.com.
    • Med Clin (Barc). 2014 Jun 6; 142 (11): 497-504.

    Background And ObjectiveFabry disease is an X-linked multisystemic lysosomal-storage condition. We describe a large family with a novel GLA mutation: p.M187R/g7219 T>G.Patients And MethodsAnamnesis/physical-exam, blood/urine analysis, α-Gal-A activity and/or genetic study of at-risk individuals and multidisciplinary evaluation in confirmed cases.Results4 males and 13 heterozygous-females displayed the mutation. Cardiac/renal/neurological disease was diagnosed at a mean age of 41/29/39 years in males and 51/56/46 years in females. Onset mean age was 20 years versus 42 years. 9/15 had cardiomyopathy. Delta wave suggestive of accessory pathway was identified in 1 male and 2 females. 1 female had cardiac arrest (ventricular fibrillation, 61 years). 2 females and 1 male died suddenly (63, 64 and 57 years). Cardiac-subscore of Mainz Severity-Score-Index was severe for males and females over 40 years. 4/15(26%) developed early renal disease. 2 males needed dialysis. 1 male died at 69 years in spite of kidney-heart transplant.ConclusionWe describe the largest genetically confirmed Spanish family using multidisciplinary evaluation and MSSI calculation. The novel mutation p.M187R/g7219 T>G is associated with a particularly malignant cardiac phenotype in males and females over 40 years. Severity was higher than that of the largest Spanish FOS-cohort. Short-PR with delta is being reported for the first time.Copyright © 2013 Elsevier España, S.L. All rights reserved.

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