R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations.

Mutations in ACTA2 (smooth muscle cell-specific isoform of α-actin) lead to a predisposition to thoracic aortic aneurysms and other vascular diseases. More recently, the ACTA2 R179H mutation has been described in individuals with global smooth muscle dysfunction. We report a patient heterozygous for the mutation in ACTA2 R179H who presented with megacystis at 13 weeks gestational age and, at birth, with prune-belly sequence. He also had deep skin dimples and creases on his palms and soles, a finding not previously described but possibly related to ACTA2. To our knowledge, this is the first report of the R179H mutation in ACTA2 in a child with prune-belly sequence. We think the R179H mutation in ACTA2 should be included in the differential diagnosis of individuals presenting with the sequence without an identified mechanical obstruction. Furthermore, as ACTA2 R179H has been reported in patients with severe vasculomyopathy and premature death, we recommend that molecular testing for this mutation be considered in fetuses presenting with fetal megacystis with a normal karyotype, particularly if the bladder diameter is 15 mm or more, to allow expectant parents to make an informed decision.

Emergency pulmonary autograft mitral valve replacement in a child.

Mitral valve replacement in small children imposes significant clinical difficulties because of the relatively small mechanical prosthetic valves required and the need for lifelong anticoagulation therapy. A child weighing 10.4 kg presented with thrombosis of her 19-mm mechanical mitral prosthesis 4 weeks after implantation despite appropriate oral anticoagulation therapy. An emergency mitral valve replacement with a pulmonary autograft was successfully performed with encouraging short-term results.

Early and follow-up angiography in minimally invasive coronary bypass without mechanical stabilization.

BACKGROUND: This study was undertaken to assess the early and late outcome of coronary anastomosis constructed on a beating heart without the help of mechanical stabilization. METHODS: All consecutive patients (51) from January 1996 to September 1997 who had bypass done by one surgeon using a left minithoracotomy (39) or median sternotomy (12) on a beating heart with occlusive local snares without mechanical stabilization underwent follow-up angiography early (100%) (within 6 hours) and late (63.5%) at a mean of 9.6+/-4.48 months (range, 3.3 to 19.1 months). RESULTS: The cumulative late patency was 95.4% (83 of 87 patients), with two early and two late occlusions. There was no early or late mortality or perioperative myocardial infarction. Two patients (3.9%) developed recurrent angina. Four anastomotic irregularities (4 of 32 patients, 12.6%) have cleared up on follow-up angiography. There was no evidence of late stenosis at the snare sites used for local occlusion. CONCLUSIONS: Minimally invasive coronary bypass is safe and effective. Early angiographic abnormalities should be interpreted with caution and we could not demonstrate any long-term deleterious effects of local snaring.

Cardiac operations in the elderly: who is at risk?

BACKGROUND: With the growing number of elderly patients presenting for cardiac operations we analyzed their early survival data to determine whether any preoperative variables might be indicative of increased risk. METHODS: From 1990 to 1995, 436 consecutive patients who were 75 years old or older had either coronary artery bypass, valve replacement(s), or a combination of these. A total of 34 preoperative variables were assessed for their effect on hospital survival by using univariate and multivariable analysis. RESULTS: There were 266 men and 170 women, with 292 patients being 75 to 80 years old and 144 patients being older than 80 years. Coronary artery bypass was performed in 242 patients, valve replacement was performed in 93 patients, and a combination of these in 101 patients. The operation was considered elective in 202 patients, urgent in 209, and emergent in 25 patients of whom 21 were in cardiogenic shock. Overall there were 61 hospital deaths (13.9%). The most common cause of death, low cardiac output syndrome, occurred in 34 patients of whom 26 suffered a perioperative myocardial infarction. Stroke was the cause of death in eight and multiple organ failure accounted for nine deaths. In the univariate analysis, variables that influenced survival included heart failure (p = 0.004), pulmonary edema (p = 0.004), cardiomegaly (p = 0.02), elevated serum creatinine (p = 0.009), surgical priority (p = 0.002), and cardiogenic shock (p = 0.002). In the multivariable analysis there were three independent determinants of hospital survival: cardiomegaly (odds ratio, 1.8:1) serum creatinine level higher than 150 micromol/L (odds ratio, 5.5:1) and emergency procedure (odds ratio, 2.5:1). CONCLUSIONS: Although cardiac operations can be performed safely in many elderly patients, we identified several factors that might help both in case selection and in perioperative decisions.

Neurological outcome in a porcine model of descending thoracic aortic surgery. Left atrial-femoral artery bypass versus clamp/repair.

BACKGROUND AND PURPOSE: In a porcine model of thoracic aortic cross-clamping (AoXC), we compared the incidence and severity of paraplegia with two surgical techniques: left atrial-femoral artery (LA-FA) bypass (BP group; n = 9) and clamp/repair (CR group; n = 8). The descending thoracic aorta was clamped near its origin and distal to the third intercostal artery for 30 minutes. The intervening three intercostal arteries were ligated and divided. METHODS: All animals received methohexital anesthesia and were hyperventilated to a Paco2 of 28 to 32 mm Hg. Animals in the CR group received mannitol, and after AoXC, proximal hypertension was controlled with phlebotomy. In the BP group, proximal hypertension was controlled with LA-FA bypass using a centrifugal pump (Biomedicus 520C). Proximal mean arterial pressure, distal mean arterial pressure, central venous pressure, and cerebrospinal fluid pressure were measured; radioactive microspheres were injected at baseline, at AoXC + 5 minutes, at AoXC + 20 minutes, at AoXC off + 5 minutes, and after resuscitation. Neurological function was assessed at 24 hours. The animals were killed, and the spinal cord was removed to determine spinal cord blood flow. Histological cross sections of the lumbar spinal cord were stained with cresyl violet/acid fuchsin and then examined with light microscopy to determine the ratio of altered to total spinal cord neurons. RESULTS: Fifteen animals survived (one death in each group) and were assessed neurologically at 24 hours after AoXC. Despite better distal perfusion and lumbar spinal cord blood flow in the BP group, during AoXC, and at AoXC off + 5 minutes, there was no significant difference in the severity of spinal cord ischemic injury between groups as assessed neurologically by Tarlov score (P = .90, Mann-Whitney U test). As well, the ratio of altered to total lumbar spinal cord neurons did not differ between groups (P = .24). CONCLUSIONS: In this chronic porcine model, distal circulatory support with LA-FA bypass afforded better distal perfusion and improved lumbar spinal cord blood flow but did not influence the severity of spinal cord ischemic injury when compared with a clamp/repair technique.

Effects of SMS 201-995 on the pharmacokinetic profile and cellular immune and toxic effects of cyclosporine in male Wistar rats.

The immunosuppressant cyclosporine and the long-acting somatostatin analog SMS 201-995 (octreotide acetate) may have to be given simultaneously in diseases such as pancreatic transplantation. The aim of the study was to evaluate the effects of SMS 201-995 on the pharmacokinetics of cyclosporine, and to assess whether the addition of SMS 201-995 altered some of the cellular immune and toxic (renal, hepatic, glucose tolerance) effects of cyclosporine. Male Wistar rats were treated with cyclosporine 10 mg/kg/day, SMS 201-995 100 micrograms/kg b.i.d., a combination of the two drugs, or the vehicle alone. The addition of SMS 201-995 delayed the peak plasma levels of cyclosporine without affecting the through levels, and did not alter the effects of cyclosporine on the mononuclear cell subsets. This combination caused significant increases in plasma creatinine and hepatic enzymes, suggesting renal and hepatic toxicity, and severe glucose intolerance. If present in humans, the appearance of severe glucose intolerance with combined administration of SMS 201-995 and cyclosporine for pancreatic transplantation could be misinterpreted as rejection and lead to inappropriate interventions.

Pneumothorax resulting from acupuncture.

The authors report two cases of pneumothorax secondary to lung puncture, which was caused by acupuncture needles. Radiologists should be alert to this possible cause of pneumothorax, particularly when needle fragments can be seen in radiographs of the soft tissues.