Characterization of limb differences in children with Cornelia de Lange Syndrome.

Cornelia de Lange syndrome (CdLS) is a well-described multisystem developmental disorder characterized by dysmorphic facial features, growth and behavioral deficits, and cardiac, gastrointestinal, and limb anomalies. The limb defects seen in CdLS can be mild, with small feet or hands only, or can be severe, with variable deficiency defects involving primarily the ulnar structures and ranging from mild hypoplasia of the fifth digit to complete absence of the forearm. Interestingly, the upper limbs are typically much more involved than the lower extremities that generally manifest with small feet and 2-3 syndactyly of the toes and shortened fourth metatarsal. The upper limbs often manifest asymmetric involvement. The limb findings in our cohort of 378 individuals with CdLS demonstrate a consistent pattern of laterality and symmetry involvement (with increased severity of right-sided limb in individuals with asymmetric limb defects) and a correlation of more significant limb defects with an increased risk of other structural anomalies, and more severe behavioral outcomes. Additionally, we found that individuals with mutations in NIPBL were most likely to have limb defects compared to mutations in other genes with nonsense, exonic deletion, and frameshift mutations being most prevalent in those with limb defects. Characterization of the limb differences in children with CdLS may provide a tool to assist in genetic counseling and determining prognosis. This paper will review the limb involvement in a large cohort of individuals with CdLS assessing the correlation with molecular etiologies, symmetry, additional structural birth defects, and cognitive outcomes. © 2016 Wiley Periodicals, Inc.

Early Transcatheter or Surgical Aortic Valve Replacement Versus Conservative Management in Asymptomatic Patients With Severe Aortic Stenosis: A Systematic Review and Meta-analysis.

The merits of conservative management vs early intervention in patients with asymptomatic severe aortic stenosis remains unknown. Digital databases (MEDLINE, Google Scholar, and Embase) were searched for all relevant studies from inception through September 2022. Studies comparing conservative management with early intervention were compared using a random-effects model to calculate risk ratios (RRs) with 95% confidence interval (CI). A total of 12 studies comprising 3624 asymptomatic aortic stenosis patients (1747 receiving surgery, and 1877 receiving conservative treatment) were included in the analysis. The average follow-up time was 4.45 (IQR 3.5-5) years. Early intervention was associated with a significantly reduced risk of cardiac (RR 0.42, 95% CI 0.25-0.72; P = 0.001; I2 = 54%), non-cardiac (RR 0.46, 95% CI 0.32-0.68; P < 0.0001; I2 = 0%), all-cause mortality (RR 0.40, 95% CI 0.32-0.51; P < 0.00001; I2 = 58%), heart failure hospitalization (RR 0.21, 95% CI 0.13-0.36; P < 0.00001; I2 = 0%), sudden cardiac death (RR 0.29, 95% CI 0.12-0.66; P = 0.004, I2 = 24%), and MACE (RR 0.46, 95% CI; 0.28-0.75; P = 0.002; I2 = 68%), compared with conservative management. There was no significant difference in the 30-day mortality (RR 0.63, 95% CI 0.19-2.04; P = 0.44; I2 = 28%), myocardial infarction (RR 0.44, 95% CI 0.19-1.06; P = 0.07, I2=0%), and 90-day mortality (RR 0.68, 95% CI 0.20-2.37; P = 0.55; I2 = 61%) between the 2 groups. This meta-analysis shows statistically significant reductions in the risk for all-cause mortality, cardiac specific mortality, non-cardiac mortality, heart failure hospitalization, MACE, and sudden cardiac death among asymptomatic aortic stenosis patients who underwent early intervention as opposed to conservative management.

Usefulness of Mobile Electrocardiographic Devices to Reduce Urgent Healthcare Visits.

Mobile electrocardiogram (mECG) devices are being used increasingly, supplying recordings to providers and providing automatic rhythm interpretation. Given the intermittent nature of certain cardiac arrhythmias, mECGs allow instant access to a recording device. In the current COVID-19 pandemic, efforts to limit in-person patient interactions and avoid overwhelming emergency and inpatient services would add value. Our goal was to evaluate whether a mECG device would reduce healthcare utilization overall, particularly those of urgent nature. We identified a cohort of KardiaMobile (AliveCor, USA) mECG users and compared their healthcare utilization 1 year prior to obtaining the device and 1 year after. One hundred and twenty-eight patients were studied (mean age 64, 47% female). Mean duration of follow-up pre-intervention was 9.8 months. One hundred and twenty-three of 128 individuals completed post-intervention follow-up. Patients were less likely to have cardiac monitors ordered (30 vs 6; p <0.01), outpatient office visits (525 vs 382; p <0.01), cardiac-specific ED visits (51 vs 30; p <0.01), arrhythmia related ED visits (45 vs 20; p <0.01), and unplanned arrhythmia admissions (34 vs 11; p <0.01) in the year after obtaining a KardiaMobile device compared to the year prior to obtaining the device. Mobile technology is available for heart rhythm monitoring and can give feedback to the user. This study showed a reduction of in-person, healthcare utilization with mECG device use. In conclusion, this strategy would be expected to decrease the risk of exposure to patients and providers and would avoid overwhelming emergency and inpatient services.

Atypical Reactivation of Varicella Zoster Virus Associated with Pancreatitis in a Heart Transplant Patient.

BACKGROUND Acute pancreatitis is rare following solid organ transplantation but is associated with high mortality. It has been most commonly reported following renal transplant but can occur with other solid organ transplantations. CASE REPORT A 46-year-old male who had an orthotopic heart transplant 6 months ago presented with a 3-week history of abdominal pain. The patient described it as intermittent, sharp, and stabbing, originating in the periumbilical area and radiating to the back. His lipase was elevated at 232 U/L. Given that the patient's symptoms and lipase were elevated to greater than three times the upper limit of normal, he patient was diagnosed with acute pancreatitis. The patient also mentioned a diffuse itchy rash that started a few days prior to admission. Dermatology was consulted, and given the man's clinical presentation, there was concern for atypical reactivation of varicella zoster virus (VZV). VZV polymerase chain reaction of the vesicles returned positive. The patient was started on acyclovir and his symptoms improved. CONCLUSIONS This is the first reported case of VZV-associated pancreatitis in a heart transplant patient. Our patient presented with acute pancreatitis and was treated supportively. However, he did not receive antiviral treatment until his rash was discovered. Timely treatment of VZV resulted in resolution of both the rash and pancreatitis. Timely diagnosis of pancreatitis and VZV is important to prevent development of multiorgan failure and death.

Anti-coagulant and anti-platelet therapy in the COVID-19 patient: a best practices quality initiative across a large health system.

The coronavirus disease 2019 (COVID-19) pandemic due to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has challenged health-care systems and physicians worldwide to attempt to provide the best care to their patients with an evolving understanding of this unique pathogen. This disease and its worldwide impact have sparked tremendous interest in the epidemiology, pathogenesis, and clinical consequences of COVID-19. This accumulating body of evidence has centered around case series and often empiric therapies as controlled trials are just getting underway. What is clear is that patients appear to be at higher risk for thrombotic disease states including acute coronary syndrome (ACS), venous thromboembolism (VTE) such as deep vein thrombosis (DVT) or pulmonary embolism (PE), or stroke. Patients with underlying cardiovascular disease are also at higher risk for morbidity and mortality if infected. These patients are commonly treated with anticoagulation and/or antiplatelet medications and less commonly thrombolysis during hospitalization, potentially with great benefit but the management of these medications can be difficult in potentially critically ill patients. In an effort to align practice patterns across a large health system (Jefferson Health 2,622 staffed inpatient beds and 319 intensive care unit (ICU) beds across 14 facilities), a task force was assembled to address the utilization of anti-thrombotic and anti-platelet therapy in COVID-19 positive or suspected patients. The task force incorporated experts in Cardiology, Vascular Medicine, Hematology, Vascular Surgery, Pharmacy, and Vascular Neurology. Current guidelines, consensus documents, and policy documents from specialty organizations were used to formulate health system recommendations. OBJECTIVE: Our goal is to provide guidance to the utilization of antithrombotic and antiplatelet therapies in patients with known or suspected COVID-19.