2 research outputs found
Estudios genéticos para determinar el riesgo de muerte súbita no isquémica: artÃculo de revisión: Genetic studies to determine the risk of non-ischemic sudden death: review article
Heart disease is the cause of sudden death in more than 80% of cases. Ischemic heart disease is the cause for 90% of all sudden cardiac deaths, while in the remaining 10% of cases, heart diseases have a hereditary origin and comprise a wide spectrum of disorders that include cardiomyopathies and channelopathies. The aim of this review is to highlight the importance of genetic counseling for patients with hereditary cardiovascular disease and its evaluation by a multidisciplinary team.La cardiopatÃa es la causa de muerte súbita en más del 80% de casos. La cardiopatÃa isquémica es responsable en el 90% del total de las muertes súbitas cardiacas, mientras que en el 10% de casos restantes, las cardiopatÃas tienen un origen hereditario y comprenden un amplio espectro de trastornos que incluyen a las cardiomiopatÃas y las canalopatÃas. El objetivo de esta revisión es poner en evidencia la importancia del asesoramiento genético de los pacientes con enfermedad cardiovascular hereditaria y su evaluación a través de un equipo multidisciplinario
A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome
Shawaf-Traboulsi syndrome (or Traboulsi syndrome; MIM 601552) is an infrequently reported entity characterized by a typical face (long face, large nose, convex nasal ridge, underdeveloped malae, crowded teeth, retrognathia), skeletal signs (long and slender fingers, sometimes pectus deformation and hypermobile joints), and ectopia lentis with conjunctival blebs, shallow anterior chamber and iridocorneal adhesions. The entity is caused by homozygous variants in ASPH. Here, we report on a boy with the clinical diagnosis of Shawaf-Traboulsi syndrome, in whom exome sequencing allowed identification of a novel variant in ASPH. We compare the findings in the present patient to those of earlier reported patients; furthermore add new signs for this entity