A case of G1013R FBN1 mutation: A potential genotype-phenotype correlation in severe Marfan syndrome.

Marfan Syndrome (MFS) is an autosomal dominant connective tissue disorder with a wide range of severities. Ninety-five percent of MFS probands have a mutation in the fibrillin-1 gene (FBN1); however, there are a high number of unique mutations complicating attempts at establishing any phenotype-genotype correlations for this disease (Tiecke et al., European Journal of Human Genetics, 2001, 9, 13-21). One of the few extant genotype-phenotype correlations is in exon 24-32 which have been associated with a severe pediatric presentation of neonatal MFS with predominately cardiovascular symptoms. We present a 24-year-old male patient with a heterozygous de novo variant NM_000138.4: c.3037G>A (p.G1013R) located in exon 25 of the FBN1 gene. The patient was found to have dysplastic mitral and tricuspid valves with dilated aortic root at 9 months of age. This is a notable case in that the location of this patient's mutation and his age of symptom onset would indicate a guarded prognosis. Further, this mutation, FBN1 G1013R, has been reported in the literature in four other unrelated patients all of whom presented at a young age with cardiac involvement and all of whom had relative longevity when compared to other patients with mutations in this exon 24-32 hot spot. These findings may represent a more specific genotype-phenotype correlation within this mutational hot spot.

Asian consortium on radiation dose of pediatric cardiac CT (ASCI-REDCARD).

BACKGROUND: With incremental utilization of pediatric cardiac CT in congenital heart disease, it is imperative to define its current radiation dose levels in clinical practice in order to help imagers optimize CT protocols, particularly in Asia and other developing countries where CT physicists are not readily available. OBJECTIVE: To evaluate current radiation dose levels and influencing factors in cardiac CT in children with congenital heart disease in Asia by conducting a retrospective multi-center, multi-vendor study. MATERIALS AND METHODS: We included 1,043 pediatric cardiac CT examinations performed in 8 centers between January 2014 and December 2014 to evaluate congenital heart disease. In five weight groups, we calculated radiation dose metrics including volume CT dose index, size-specific dose estimate, dose-length product and effective dose. Age at CT exam, gender, tube voltage, scan mode, CT indication and image reconstruction algorithm were analyzed to learn whether they influenced CT radiation dose. RESULTS: Volume CT dose index, size-specific dose estimate, dose-length product and effective dose of pediatric cardiac CT showed variations in the range of 4.3-23.8 mGy, 4.9-17.6 mGy, 55.8-501.3 mGy∙cm and 1.5-3.2 mSv, respectively, within five weight groups. Gender, tube voltage, scan mode and cardiac function assessment significantly influenced CT radiation dose. CONCLUSION: This multi-center, multi-vendor study demonstrated variations in radiation dose metrics of pediatric cardiac CT reflecting current practice in Asia. Gender, tube voltage, scan mode and cardiac function assessment should be considered as essential radiation dose-influencing factors in developing optimal pediatric cardiac CT protocols.

Effect of race and ethnicity on outcomes with drug-eluting and bare metal stents: results in 423 965 patients in the linked National Cardiovascular Data Registry and centers for Medicare & Medicaid services payer databases.

BACKGROUND: Black, Hispanic, and Asian patients have been underrepresented in percutaneous coronary intervention clinical trials; therefore, there are limited data available on outcomes for these race/ethnicity groups. METHODS AND RESULTS: We examined outcomes in 423 965 patients in the National Cardiovascular Data Registry CathPCI Registry database linked to Medicare claims for follow-up. Within each race/ethnicity group, we examined trends in drug-eluting stent (DES) use, 30-month outcomes, and relative outcomes of DES versus bare metal stents. Overall, 390 351 white, 20 191 black, 9342 Hispanic, and 4171 Asian patients > 65 years of age underwent stent implantation from 2004 through 2008 at 940 National Cardiovascular Data Registry participating sites. Trends in adoption of DES were similar across all groups. Relative to whites, black and Hispanic patients undergoing percutaneous coronary intervention had higher long-term risks of death and myocardial infarction (blacks: hazard ratio, 1.28; 95% confidence interval, 1.24-1.32; Hispanics: hazard ratio, 1.15; 95% confidence interval, 1.10-1.21). Long-term outcomes were similar in Asians and whites (hazard ratio, 0.99; 95% confidence interval, 0.92-1.08). Use of DES was associated with better 30-month survival and lower myocardial infarction rates compared with the use of bare metal stents among all race/ethnicity groups except Hispanics, who had similar outcomes with DES or bare metal stents. CONCLUSIONS: Black and Hispanic patients undergoing percutaneous coronary intervention had worse long-term outcomes relative to white and Asian patients. Compared with bare metal stent use, DES use was generally associated with superior long-term outcomes in all racial and ethnic groups, although these differences were not statistically significant in Hispanic patients.

Performance of common genetic variants in breast-cancer risk models.

BACKGROUND: Genomewide association studies have identified multiple genetic variants associated with breast cancer. The extent to which these variants add to existing risk-assessment models is unknown. METHODS: We used information on traditional risk factors and 10 common genetic variants associated with breast cancer in 5590 case subjects and 5998 control subjects, 50 to 79 years of age, from four U.S. cohort studies and one case-control study from Poland to fit models of the absolute risk of breast cancer. With the use of receiver-operating-characteristic curve analysis, we calculated the area under the curve (AUC) as a measure of discrimination. By definition, random classification of case and control subjects provides an AUC of 50%; perfect classification provides an AUC of 100%. We calculated the fraction of case subjects in quintiles of estimated absolute risk after the addition of genetic variants to the traditional risk model. RESULTS: The AUC for a risk model with age, study and entry year, and four traditional risk factors was 58.0%; with the addition of 10 genetic variants, the AUC was 61.8%. About half the case subjects (47.2%) were in the same quintile of risk as in a model without genetic variants; 32.5% were in a higher quintile, and 20.4% were in a lower quintile. CONCLUSIONS: The inclusion of newly discovered genetic factors modestly improved the performance of risk models for breast cancer. The level of predicted breast-cancer risk among most women changed little after the addition of currently available genetic information.

Tracheobronchial foreign bodies in children: imaging assessment.

Tracheobronchial foreign-body aspiration is a relatively frequent pediatric emergency and a cause of substantial morbidity and mortality especially in preschool children. Although foreign-body aspiration may cause sudden airway obstruction and subsequent death, quite often symptoms are mild and nonspecific; therefore, the correct diagnosis may be delayed particularly in the pediatric population. A delay in diagnosis increases the rate of complications and can cause substantial morbidity. Early and accurate diagnosis combined with intervention through foreign-body retrieval is critical for proper patient management. For evaluation of both radiopaque and non-radiopaque airway foreign bodies in pediatric patients, imaging plays an important role in initial detection and follow-up evaluation. In this article, we discuss the currently available imaging modalities and techniques for evaluating tracheobronchial foreign bodies in infants and children. Imaging findings of various tracheobronchial foreign bodies and mimics of foreign bodies are also discussed. In addition, information regarding management of tracheobronchial foreign-body aspiration is included.

The rapid diagnosis of pseudoaneurysm formation in left ventricular free wall rupture.

Left ventricular rupture with subsequent pseudoaneurysm formation is an uncommon but potentially catastrophic complication of acute myocardial infarction. We describe a patient with suspected myocardial rupture in whom the diagnosis was rapidly established with the novel use of contrast echocardiography in an emergency room setting. Contrast echocardiography is compared to other modalities in diagnosing this rare, potentially fatal, condition.

Diagnostic challenges in cornual epithelioid trophoblastic tumor.

OBJECTIVE: We present a case of primary cornual epithelioid trophoblastic tumor (ETT) because of its rarity and diagnostic and therapeutic challenge. CASE REPORT: A 28-year-old woman, gravida 1, para 1, who missed menstruation for 3 months, had an elevated ß-human chorionic gonadotropin serum level of 2764 mIU/mL, an absence of intrauterine pregnancy, and the presence of an adnexal mass detected by transvaginal ultrasound. As an ectopic pregnancy was suspected, laparoscopic surgery was performed and showed a right corneal mass. Complete excision of the tumor was done through exploratory laparotomy. Frozen pathology favored the diagnosis of squamous cell carcinoma. Since there was no apparent tumor at other sites, no additional surgery was done. The final pathology showed ETT. Primary ETT is often misdiagnosed as an ectopic pregnancy, leading to delayed treatment, and poses a diagnostic challenge in distinguishing it from squamous cell carcinoma during pathological examination. CONCLUSION: Careful evaluation and avoidance of overtreatment are emphasized.

Prognostic factors of primary fallopian tube cancer in a single institute in Taiwan.

OBJECTIVE: To improve the understanding of primary fallopian tube carcinoma (PFTC) through an analysis of possible clinical and pathologic determinants of prognosis. METHODS: A retrospective review of the database of a tertiary hospital in Taiwan for 1978-2007 was conducted to identify patients with a diagnosis of PFTC and to evaluate the clinicopathologic features associated with PFTC outcome. RESULTS: Fifty-eight patients (mean age 62.5 years) had a diagnosis of PFTC. Stage III/IV disease (55%) and poorly differentiated tumors (52%) were most common. The median follow-up was 93 months (range, 11-333 months). The 5-year disease-free survival rate was 59%, and the overall survival rate was 64%. Factors important in disease-free and overall survival in univariate analysis included the presence of pelvic and/or para-aortic lymph node metastases, International Federation of Gynecology and Obstetrics stage, high preoperative carbohydrate antigen 125 serum level, completion of optimal debulking surgery, and the use of paclitaxel-based chemotherapy; however, only patients with optimal cytoreduction had a decreased hazard of recurrence (hazard ratio [HR] 0.06; 95% confidence interval [CI] 0.01-0.23) and mortality (HR 0.08; 95% CI, 0.02-0.31) in multivariate analysis. CONCLUSION: Advanced tumor stage, in particular the presence of lymph node metastases, worsened the prognosis of patients with PFTC. However, optimal debulking surgery significantly improved the prognosis, emphasizing the importance of the treatment strategy.

Merosin-deficient congenital muscular dystrophy (MDCMD): a case report with MRI, MRS and DTI findings.

Congenital muscular dystrophy (CMD) comprises a heterogeneous group of disorders present at birth with muscle weakness, hypotonia and contractures. Congenital muscular dystrophy (CMD) comprises a heterogeneous group of disorders with muscle weakness, hypotonia and contractures present at birth. A particular subset of classic CMD is characterized by a complete absence of merosin. Merosin-deficient congenital muscular dystrophy (MDCMD) is a rare genetic disease involving the central and peripheral nervous system in the childhood. High signal intensities are often observed throughout the centrum semiovale, periventricular, and sub-cortical white matters on T2-weighted images in MRI brain in children with MDCMD. Apparent diffusion coefficient (ADC) map may reveal increased signal intensity and apparent diffusion coefficient values in the periventricular and deep white matters. These white matter findings, observed in late infancy, decrease in severity with age. The pathogenesis of these changes remains uncertain at present. In this article, we outline the specific MR imaging findings seen in a patient with documented MDCMD and also suggest the causes.

Percutaneous closure of aortocaval fistula using the amplatzer muscular VSD occluder.

Aortocaval fistula is an uncommon but often fatal complication of abdominal aortic aneurysm. Both open and endovascular repair of aortic aneurysm with aortocaval fistulae have been previously reported. We present the case of a patient with persistent aortocaval fistula after endovascular stent graft repair, which is closed using an Amplatzer muscular VSD occluder. Further studies using the Amplatzer muscular VSD occluder for closure of aortocaval fistulae are warranted.

The Impella 2.5 L for percutaneous mechanical circulatory support in severe humoral allograft rejection.

Heart transplant recipients who experience humoral rejection are at risk for hemodynamic instability. We report a case of a 64-year-old male with cardiogenic shock due to allograft rejection requiring mechanical support while undergoing intense immunosuppression. He underwent implantation of a micro-axial endovascular pump (Impella). To our knowledge, this is the first reported case of successful Impella device deployment as a bridge-to-recovery strategy.

Successful retrograde recanalization of a left anterior descending artery chronic total occlusion through a previously placed left anterior descending-to-diagonal artery stent.

Since the introduction of the retrograde technique, the success rate of chronic total occlusion (CTO) percutaneous coronary intervention (PCI) has increased significantly in patients with suitable anatomy. To our knowledge, retrograde recanalization of a CTO from the abluminal side of a previously placed stent has not been reported. We describe a case of retrograde PCI of a mid left anterior descending (LAD) artery CTO through a previously placed proximal LAD stent which extended into the diagonal artery. The occluded mid LAD was recanalized using the retrograde approach in which retrograde wire crossing into the proximal LAD was successful only after high pressure balloon expansion of the previously placed proximal LAD-to-diagonal stent. Intravascular ultrasound imaging was also used to confirm an intraluminal location of the retrograde guidewire.

PPI-delayed diagnosis of gastrinoma: oncologic victim of pharmacologic success.

Functional neuroendocrine tumors are often low-grade malignant neoplasms that can be cured by surgery if detected early, and such detection may in turn be accelerated by the recognition of neuropeptide hypersecretion syndromes. Uniquely, however, relief of peptic symptoms induced by hypergastrinemia is now available from acid-suppressive drugs such as proton-pump inhibitors (PPIs). Here we describe a clinical case in which time to diagnosis from the onset of peptic symptoms was delayed more than 10 years, in part reflecting symptom masking by continuous prescription of the PPI omeprazole. We propose diagnostic criteria for this under-recognized new clinical syndrome, and recommend that physicians routinely measure serum gastrin levels in persistent cases of PPI-dependent dyspepsia unassociated with H. pylori.