RESUMEN
We report the clinical presentation and genetic screening of a 31-year-old man with dilatation of the aortic root and ascending aorta and a positive family history for aortic dissection and sudden death. A novel heterozygous variant in a splice acceptor site (c.1600-1G>T) of TGFßR2 gene was identified by using a targeted multi-gene panel analysis. Bioinformatics tools predicted that the c.1600-1G>T variant is pathogenic by altering acceptor splice site at - 1 position affecting pre-mRNA splicing. These data confirm that the diverging splicing in the TGF-ß pathway genes may be an important process in aneurismal disease and emphasize the utility of genetic sequencing in the identification of high-risk patients for a more patient's management able to improve outcomes and minimize costs for the care of patients with heritable thoracic aortic aneurysm and dissection.
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Asunto(s)
Aneurisma de la Aorta Torácica , Disección Aórtica , Receptor Tipo II de Factor de Crecimiento Transformador beta , Humanos , Masculino , Adulto , Disección Aórtica/genética , Receptor Tipo II de Factor de Crecimiento Transformador beta/genética , Aneurisma de la Aorta Torácica/genética , Linaje , Aneurisma de la Aorta/genética , Empalme del ARN/genética , Sitios de Empalme de ARN/genética , Predisposición Genética a la Enfermedad/genética , Mutación/genéticaRESUMEN
AIMS: Gamma-glutamyltransferase (GGT) has been recognized as a cardiovascular risk factor, and its highest molecular weight fraction [big GGT (b-GGT)] is found in vulnerable atherosclerotic plaques. We explored the relationship between b-GGT, computed tomography findings, and long-term outcomes in the general population. METHODS AND RESULTS: Between May 2010 and October 2011, subjects aged 45-75 years living in a Tuscan city and without known cardiac disease were screened. The primary endpoint was a composite of cardiovascular death or acute coronary syndrome requiring urgent coronary revascularization. Gamma-glutamyltransferase fractions were available in 898 subjects [median age 65 years (25th-75th percentile 55-70), 46% men]. Median plasma GGT was 20 IU (15-29), and b-GGT was 2.28 (1.28-4.17). Coronary artery calcium (CAC) score values were 0 (0-60), and the volume of pro-atherogenic epicardial fat was 155 mL (114-204). In a model including age, sex, low-density lipoprotein (LDL) cholesterol, current or previous smoking status, hypertension, diabetes, obesity, b-GGT independently predicted epicardial fat volume (EFV) (r = 0.162, P < 0.001), but not CAC (P = 0.198). Over a 10.3-year follow-up (9.6-10.8), 27 subjects (3%) experienced the primary endpoint. We evaluated couples of variables including b-GGT and a cardiovascular risk factor, CAC or EFV. Big GGT yielded independent prognostic significance from age, LDL cholesterol, current or previous smoking status, hypertension, diabetes, obesity, but not CAC or EFV. Conversely, GGT predicted the primary endpoint even independently from CAC and EFV. CONCLUSION: Big GGT seemed at least as predictive as the commonly available GGT assay; therefore, the need for b-GGT rather than GGT measurement should be carefully examined.
Asunto(s)
Enfermedad de la Arteria Coronaria , Hipertensión , Masculino , Humanos , Anciano , Femenino , Enfermedad de la Arteria Coronaria/epidemiología , gamma-Glutamiltransferasa , Pericardio/diagnóstico por imagen , ObesidadRESUMEN
Partial detachment of intracardiac prosthesis is a common reality in cardiac surgical practice. Its identification and surgical correction can be very crucial for a patient, as well as for the surgeon. In this paper, we report a case of a 30-year-old man with partial detachment of mechanical mitral valve prosthesis. He recently underwent his seventh heart surgery procedure; five of them were caused by recurrent dehiscence of mitral valve prosthesis.