Evaluación clínica detallada de una familia española con enfermedad de Anderson-Fabry, nueva mutación en GLA y fenotipo cardiaco grave / Comprehensive clinical evaluation of a large Spanish family with Anderson-Fabry disease, novel GLA mutation and severe cardiac phenotype

Background and objective: Fabry 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 methods: Anamnesis/physical-exam, blood/urine analysis, a-Gal-A activity and/or genetic study of at-risk individuals and multidisciplinary evaluation in confirmed cases. Results: 4 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. Conclusion: We 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 (AU)

Fundamento y objetivo: La enfermedad de Fabry es un trastorno sistémico por depósito lisosomal ligado a X. Describimos una familia grande con una mutación nueva en GLA: p.M187R/g7219 T > G. Pacientes y Métodos: Anamnesis/exploración, análisis sangre/orina), actividad alfa-Gal-A y/o estudio genético a individuos en riesgo y evaluación multidisciplinar de casos confirmados. Resultados: Cuatro varones/12 mujeres presentaban la mutación. Se diagnosticó enfermedad cardiaca/ renal/neurológica a los 41/29/39 años como media en varones, y a los 51/56/46 años en mujeres. La media de inicio fue 20 años frente a 42. Presentaban miocardiopatı' a 9/15. Se identificó onda delta indicativa de vía accesoria en un varón y 2 mujeres. Una mujer sufrió parada cardiorrespiratoria (fibrilación ventricular, 61 años). Dos mujeres y un varón murieron súbitamente (63, 64 y 57 años, respectivamente). El subscore cardiaco del Mainz Severity Score Index (MSSI) fue grave en hombres y mujeres mayores de 40 años. Presentaron enfermedad renal temprana 4/15 (26%). Dos varones precisaron diálisis. Un varón murió a los 69 años pese a trasplante cardiorrenal. Conclusión: Describimos la mayor familia española confirmada gene' ticamente con evaluación multidisciplinar y cálculo del MSSI. La nueva mutación p.M187R/g7219 T > G asocia un fenotipo cardiaco especialmente grave en hombres y mujeres mayores de 40 años. La gravedad fue superior a la de la mayor cohorte-FOS española publicada. Se describen por primera vez ondas delta asociadas a PR-corto (AU)

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

BACKGROUND AND OBJECTIVE: Fabry 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 METHODS: Anamnesis/physical-exam, blood/urine analysis, α-Gal-A activity and/or genetic study of at-risk individuals and multidisciplinary evaluation in confirmed cases. RESULTS: 4 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. CONCLUSION: We 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.

Trombosis de la vena ovárica con extensión a la vena cava inferior en el posparto / Ovarian vein thrombosis spreading to the inferior vena cava

La trombosis de la vena ovárica es una complicación que puede aparecer durante el puerperio o después de una intervención quirúrgica pélvica. Es una entidad poco frecuente pero potencialmente grave, de ahí la importancia del diagnóstico y el tratamiento temprano. Debe sospecharse ante la aparición de fiebre y dolor abdominal agudo en los primeros días posparto. La prueba diagnóstica de elección sigue siendo la tomografía computarizada (TC) con contraste. Tras la administración de antibióticos de amplio espectro y heparina, la mejoría clínica es inmediata.Presentamos un caso de trombosis de la vena ovárica que aparece como complicación tras la realización de una cesárea (AU)

Ovarian vein thrombosis is a complication that can appear during the postpartum period or after pelvic surgery. This complication is a rare but serious entity requiring early diagnosis and treatment and should be suspected in patients with fever and acute abdominal pain at the beginning of the postpartum. Imaging diagnosis with contrast computed tomography remains the gold standard. Administration of broad-spectrum antibiotics and heparin therapy produces immediate clinical improvement.We report a case of ovarian vein thrombosis after a cesarean delivery (AU)