RESUMEN
Intracardiac paragangliomas most commonly arise from the left atrium and are often infiltrative and densely adherent to surrounding structures. Given their rarity, only scattered reports exist in the literature and standardized perioperative and surgical management is not well established. We describe a case of a 60-year-old woman with a mildly functioning intracardiac paraganglioma in which division of the superior vena cava improved exposure and enabled a complex limited resection. Further, we provide an overview of the diagnostic workup, perioperative medical management, surgical approach, and surveillance strategy in patients with these challenging tumors.
Asunto(s)
Paraganglioma , Vena Cava Superior , Femenino , Humanos , Persona de Mediana EdadRESUMEN
Lymphovenous malformations of the heart are rare, and optimal management is uncertain. We present a case of a 39-year-old gentleman with a giant symptomatic lymphovenous malformation involving the right atrium, ventricle, and coronary artery. Radical resection was performed with replacement of the tricuspid valve and bovine pericardial reconstruction of the atrium and ventricle. Additional coronary artery bypass grafting was performed to the acute marginal and distal right coronary artery. Radical resection for this benign process is feasible and may be considered given the possibility of recurrence seen with lymphatic malformations of other parts of the body.
Asunto(s)
Anomalías de los Vasos Coronarios/diagnóstico por imagen , Anomalías de los Vasos Coronarios/cirugía , Atrios Cardíacos/anomalías , Ventrículos Cardíacos/anomalías , Adulto , Angiografía Coronaria , Humanos , Imagen por Resonancia Magnética , MasculinoRESUMEN
There is substantial evidence for a susceptibility gene for late-onset Alzheimer's disease (AD) on chromosome 10. One of the characteristic features of AD is the degeneration and dysfunction of the cholinergic system. The genes encoding choline acetyltransferase (ChAT) and its vesicular transporter (VAChT), CHAT and SLC18A3 respectively, map to the linked region of chromosome 10 and are therefore both positional and obvious functional candidate genes for late-onset AD. We have screened both genes for sequence variants and investigated each for association with late-onset AD in up to 500 late-onset AD cases and 500 control DNAs collected in the UK. We detected a total of 17 sequence variants. Of these, 14 were in CHAT, comprising three non-synonymous variants (D7N in the S exon, A120T in exon 5 and L243F in exon 8), one synonymous change (H547H), nine single-nucleotide polymorphisms in intronic, untranslated or promoter regions, and a variable number of tandem repeats in intron 7. Three non-coding SNPs were detected in SLC18A3. None demonstrated any reproducible association with late-onset AD in our samples. Levels of linkage disequilibrium were generally low across the CHAT locus but two of the coding variants, D7N and A120T, proved to be in complete linkage disequilibrium.