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).

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.

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.

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.

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.

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.

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.

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).

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.

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.

Comparison of outcomes using bare metal versus drug-eluting stents in coronary artery disease patients with and without human immunodeficiency virus infection.

Patients with human immunodeficiency virus (HIV) who undergo percutaneous coronary intervention have a substantial risk of subsequent cardiovascular events. However, outcome data from HIV-infected patients who receive drug-eluting stents (DESs) are limited. We hypothesized that HIV-infected patients treated with DESs would have fewer recurrent cardiac events compared with those who receive bare metal stents (BMSs).

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.