Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome.

Marfan Syndrome (MFS) is an autosomal dominant condition caused by variants in the fibrillin-1 (FBN1) gene. Cardinal features of MFS include ectopia lentis (EL), musculoskeletal features and aortic root aneurysm and dissection. Although dissection of the ascending aorta is the main cause of mortality in MFS, the clinical course differs considerably in age of onset and severity, even among individuals who share the same causative variant, suggesting the existence of additional genetic variants that modify the severity of the cardiovascular phenotype in MFS. We recruited MFS patients and classified them into severe (n = 8) or mild aortic phenotype (n = 14) according to age of presentation of the first aorta-related incident. We used Exome Sequencing to identify the genetic variants associated with the severity of aortic manifestations and we performed linkage analysis where suitable. We found five genes associated with severe aortic phenotype and three genes that could be protective for this phenotype in MFS. These genes regulate components of the extracellular matrix, TGFß pathway and other signaling pathways that are involved in the maintenance of the ECM or angiogenesis. Further studies will be required to understand the functional effect of these variants and explore novel, personalized risk management and, potentially, therapies for these patients.

[Redefining the gold standard for aortic valve replacement: Minimally invasive with accelerated recovery]. / Redefiniendo el estándar de oro para el reemplazo valvular aórtico: mínimamente invasivo y recuperación acelerada.

BACKGROUND: Despite being introduced 20 years ago minimally invasive aortic valve replacement is only performed routinely in a minority of patients world-wide. AIM: To report the operative outcome of minimally invasive aortic valve replacement done through a partial upper sternotomy. PATIENTS AND METHODS: Retrospective analysis of data recorded prospectively of 450 consecutive patients with a median age of 66 years (59% males) who had a minimally invasive aortic replacement. RESULTS: 79% of patients had aortic stenosis. Cross clamp/cardiopulmonary bypass times (median) were 56 and 68 minutes respectively. Conversion to full sternotomy was required in 2.6% of patients, reoperation for bleeding in 2.9%. 1.6% suffered a stroke and 19% postoperative atrial fibrillation. 0.9% required a permanent pacemaker. Postoperative mortality was 0.9%. Median postoperative hospital stay was six days. CONCLUSIONS: Minimally invasive aortic valve replacement can be performed with satisfactory results.

Redefiniendo el estándar de oro para el reemplazo valvular aórtico: mínimamente invasivo y recuperación acelerada / Redefining the gold standard for aortic valve replacement: minimally invasive with accelerated recovery

Background: Despite being introduced 20 years ago minimally invasive aortic valve replacement is only performed routinely in a minority of patients world-wide. Aim: To report the operative outcome of minimally invasive aortic valve replacement done through a partial upper sternotomy. Patients and Methods: Retrospective analysis of data recorded prospectively of 450 consecutive patients with a median age of 66 years (59% males) who had a minimally invasive aortic replacement. Results: 79% of patients had aortic stenosis. Cross clamp/cardiopulmonary bypass times (median) were 56 and 68 minutes respectively. Conversion to full sternotomy was required in 2.6% of patients, reoperation for bleeding in 2.9%. 1.6% suffered a stroke and 19% postoperative atrial fibrillation. 0.9% required a permanent pacemaker. Postoperative mortality was 0.9%. Median postoperative hospital stay was six days. Conclusions: Minimally invasive aortic valve replacement can be performed with satisfactory results.

Bone scintigraphy in children with cat scratch disease.

AIM: The objective of this study was to evaluate the degree and incidence of bone involvement in patients with cat scratch disease. METHODS: Patients admitted between 2004 and 2011 at the pediatric department for cat scratch disease and a positive serology for Bartonella henselae were identified. Only those having undergone a bone scintigraphy (BS) were included in this retrospective study. RESULTS: Sixteen girls and 8 boys with a mean age of 7 years were studied. Bone scintigraphy was positive in 6 (25%), but only 2 had bone pain. Axial involvement was present in all 6 patients, and appendicular lesions in 3 of them. Three patients had a BS control, with improvement or normalization after treatment with antibiotics. CONCLUSIONS: Bone involvement occurs infrequently in patients with cat scratch disease and is not always associated with specific signs. Cat scratch disease must be suspected in patients with fever of unknown origin presenting multifocal lesions on BS.