RESUMEN
Congenital aneurysm of the left atrial appendage is quite infrequent. Most instances are asymptomatic. Patients can report a variety of symptoms, one of the most frequent being onset of auricular tachyarrhythmia. Various imaging techniques are useful in diagnosis and allow the differential diagnosis with other pathologies. We describe the case of a 24-year-old male with congenital aneurysm of the left atrial appendage. The patient presented with auricular fibrillation. Diagnosis was based on transthoracic and trans-esophageal echocardiography, and the patient was treated by surgical resection of the aneurysm under extracorporeal circulation.
Asunto(s)
Apéndice Atrial/diagnóstico por imagen , Aneurisma Cardíaco/congénito , Apéndice Atrial/cirugía , Fibrilación Atrial/etiología , Ecocardiografía Transesofágica , Aneurisma Cardíaco/complicaciones , Aneurisma Cardíaco/cirugía , Humanos , Masculino , Adulto JovenRESUMEN
This is a report of a family with four members affected with Danon disease and variable clinical presentations, including cardiomyopathy, skeletal muscle pathology, and hepatopathy. Analysis by electron microscopy of the quadriceps muscle from the proband and his brother showed abnormal mitochondria, and immunohistochemistry revealed no expression of LAMP-2 protein. This defect is due to a yet undescribed mutation located at the second nucleotide in the intron 8 of the Lamp-2 gene (c.1093+2 T>A) that generated exon 8 skipping confirmed at RNA level in the proband.
