Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.

The term "arthrogryposis" is used to indicate multiple congenital contractures affecting two or more areas of the body. Arthrogryposis is the consequence of an impairment of embryofetal neuromuscular function and development. The causes of arthrogryposis are multiple, and in newborns, it is difficult to predict the molecular defect as well as the clinical evolution just based on clinical findings. We studied a consecutive series of 13 participants who had amyoplasia, distal arthrogryposis (DA), or syndromic forms of arthrogryposis with normal intellectual development and other motor abilities. The underlying pathogenic variants were identified in 11 out of 13 participants. Correlating the genotype with the clinical features indicated that prenatal findings were specific for DA; this was helpful to identify familial cases, but features were non-specific for the involved gene. Perinatal clinical findings were similar among the participants, except for amyoplasia. Dilatation of the aortic root led to the diagnosis of Loeys-Dietz syndrome (LDS) in one case. The phenotype of DA type 5D (DA5D) and Escobar syndrome became more characteristic at later ages due to more pronounced pterygia. Follow-up indicated that DA type 1 (DA1)/DA type 2B (DA2B) spectrum and LDS had a more favorable course than the other forms. Hand clenching and talipes equinovarus/rocker bottom foot showed an improvement in all participants, and adducted thumb resolved in all forms except in amyoplasia. The combination of clinical evaluation with Next Generation Sequencing (NGS) analysis in the newborn may allow for an early diagnosis and, particularly in the DAs, suggests a favorable prognosis.

Balloon aortic valvuloplasty as a palliative treatment in patients with severe aortic stenosis and limited life expectancy: a single center experience.

Whether balloon aortic valvuloplasty (BAV) may provide an effective palliation in symptomatic high-risk patients is uncertain. Therefore, we aimed to evaluate outcomes in symptomatic high-risk patients with severe aortic stenosis (AS), who underwent BAV. All-cause mortality and length of hospitalization for heart failure (HF) up to death or to 1-year follow up were collected after BAV. One hundred thirty-two (132) patients (62% women), mean age 85±7 years, underwent BAV with a substantial reduction of the peak-to-peak aortic gradient from 53±21 to 29±15 mmHg (p<0.001). The median of days of HF hospitalization prior to BAV was 9 (0-19), and decreased after BAV to 0 (0-9), p<0.001. During 1-year follow-up patients with untreated CAD (85, 64%) had a higher mortality compared to patients with insignificant/treated CAD (47, 36%): 1-year survival: 45±7% vs. 66± 7%; p=0.02. After adjustment for STS risk score and severity of residual AS, patients with untreated CAD remained at higher risk of mortality (adjusted HR 1.74 [1.01-2.91]; p=0.04). Thus, in this series of symptomatic high-risk patients, BAV was associated with a significant reduction in aortic valve gradient and hospitalization time for HF post-BAV. In patients with significant CAD, percutaneous intervention might be considered in order to improve survival.

Non-invasive diagnosis of acute ischemic bowel disease detected as hepatic portal venous gas during intra-aortic balloon percutaneous counterpulsation.

The authors report a very unusual case of non-invasive diagnosis of acute ischemic bowel disease detected as hepatic portal venous gas during intra-aortic balloon percutaneous counterpulsation. A 64-year-old man with acute ST-elevation myocardial infarction complicated by cardiogenic shock was treated with percutaneous angioplasty and intra-aortic balloon percutaneous counterpulsation. The post-procedural period was complicated by severe abdominal pain. Abdominal computed tomography revealed hepatic portal venous gas. Multiple kidney and splenic ischemic areas were also identified. Colonoscopy showed signs referring to acute ischemic colitis. Computed tomography detection of hepatic portal venous gas has permitted the non-invasive diagnosis of bowel necrosis.

[Breast arterial calcifications and coronary calcifications: a common link with atherosclerotic subclinical disease?]. / Calcificazioni arteriose mammarie e calcificazioni coronariche: un "link" comune con la malattia aterosclerotica subclinica?

Coronary artery calcifications seem to be correlated with a high risk of coronary heart disease. Computed tomography has been shown to be capable of providing accurate, non-invasive measurements of coronary artery calcifications. Coronary calcium is a recognized marker of atherosclerosis. Atherosclerotic burden of coronary arteries correlates strongly with the amount of coronary artery calcifications measured by computed tomography. The presence and extent of breast arterial calcifications detected at mammography has been associated with diabetes and hypertension and it seems to be correlated with the extent of coronary atherosclerosis. This review analyzes the relationship between coronary artery calcifications, breast arterial calcifications and the increased risk of subsequent cardiovascular events.

Vascular surgery patients: perioperative and long-term risk according to the ACC/AHA guidelines, the additive role of post-operative troponin elevation.

AIMS: The objectives of this study are to evaluate the prognostic role of pre-operative stratification in patients undergoing elective major vascular surgery, the timing of adverse outcomes, and the predictive role of troponin (cTn). METHODS AND RESULTS: Consecutive vascular surgery candidates (n=391) were prospectively stratified and treated according to the ACC/AHA guidelines. The patients were categorized into three groups: (1) with coronary revascularization in the past 5 years, (2) with intermediate clinical risk predictors, and (3) with minor or no clinical risk predictors. cTnI was measured post-operatively. By 18 months, 18.7% of subjects had experienced death or acute myocardial infarction (MI) (by the ACC/ESC criteria). The hazard ratio (HR) was 5.21 (95% CI=2.60-10.43; P<0.0001) in group 1 and 2.58 (95% CI=1.27-4.38; P=0.004) in group 2 when compared with group 3. Most events occurred within 30 days. Elevations of cTnI were associated with adverse outcomes even after multivariable adjustment at long-term (adjusted overall HR=4.73, 95% CI=2.92-7.65; P<0.0001) and at 30 days (adjusted HR=5.52, 95% CI=3.23-9.42; P<0.0001). CONCLUSION: After pre-operative stratification, patients undergoing elective major vascular surgery remain at high risk of MI and death. Events occur mainly early after surgery. cTnI elevations are frequent and independently associated with increased risk. These findings suggest the need for a major re-evaluation of our approach to these patients.

Aortic valve periprosthetic leakage: anatomic observations and surgical results.

BACKGROUND: One of the most frequent causes of reoperation after heart valve replacement is periprosthetic leakage (PPL). Previous studies have failed to determine whether PPL is linked to specific anatomic details. The aim of this study was to examine the location within the aortic annulus where PPL occurs, and to evaluate the postoperative outcome after surgical correction. METHODS: Between January 1985 and December 2001, 28 patients underwent reoperation because of PPL after aortic valve replacement. The aortic annulus was analyzed in a clockwise format with hour 1 corresponding to the commissure between the left coronary sinus and the right coronary sinus, hour 5 to the commissure between the right coronary sinus and the noncoronary sinus, and hour 9 to the commissure between the noncoronary sinus and the left coronary sinus. RESULTS: Overall operative mortality was 7.1% (2 patients). Repair of PPL was carried out in 8 patients whereas prosthetic valve replacement was necessary in 20 patients. Urgency or emergency operation (p < 0.0037), preoperative New York Heart Association class IV (p < 0.04), need for prosthetic valve replacement (p = 0.05), and implant of mechanical valve (p = 0.031) were independent determinants of dismal prognosis. Periprosthetic leakage occurred more frequently between hour 4 and hour 8 (19 patients), with the risk of leakage being two times greater than in other annular areas. CONCLUSIONS: Our study suggests that PPL occurs more frequently in a specific portion of the peculiar aortic annulus. In case of PPL diagnosis, a timely reoperation might decrease operative risks by avoiding emergency procedures and unfavorable preoperative clinical conditions, and preventing prosthetic valve replacement.

[Calcium score quantification using new techniques and its prognostic role in various subgroups of patients]. / Quantificazione del calcio coronarico (calcium score) attraverso l'utilizzo di nuove tecniche di imaging e suo ruolo prognostico in vari sottogruppi di pazienti.

Coronary artery disease is the first cause of mortality in industrialized countries notwithstanding the diagnostic and therapeutic progresses. Electron beam computed tomography and multislice computed tomography with calcium score software seem to have an important role in the early diagnosis of coronary artery disease. Coronary calcium is associated with a high probability of subclinical atherosclerosis. In particular the area of calcification has a positive correlation with the histologically analyzed area of the atheromatous burden plaque. The pathophysiological mechanism may be that the calcium adherent to the plaque makes unstable the plaque with possible rupture. Several studies have analyzed the predictive value of calcium score in various subgroups of patients (asymptomatic, with chest pain, with diabetes) and they have confirmed the presence of large calcific deposits in subjects with a high cardiovascular risk. The correlation of the other risk factors with calcium score is unclear and whether this is due to genetic predisposition requires further investigation.