Cardiac anomalies associated with Escobar syndrome: A case report and a review of the literature.

RATIONALE: Escobar syndrome (ES) is an autosomal recessive disorder. It is highly characterized by facial abnormalities, congenital diaphragmatic muscle weakness, myasthenic-like features, and skin pterygiums on multiple body legions. ES is a rare condition associated with many external and internal abnormalities. The internal malformations described in ES affect many organs including the heart, lungs, esophagus, liver, spleen, and intestine. The purpose of this paper is to explore the cardiac manifestations associated with ES. PATIENT CONCERNS: A 3.5-year-old girl, who was born for double first cousins, was admitted to the hospital for neuromuscular evaluation of multiple congenital contractures. DIAGNOSIS: The girl was diagnosed with ES and isolated dextrocardia which is a rare cardiac manifestation. However, to the best of our knowledge, no similar cases have been reported to date, and this case is thus believed to be very rare. INTERVENTIONS: The patient underwent an operative intervention to correct the bilateral fixed flexion deformity at her knees which was related to the posterior bilateral fibrotic bands/pterygia. OUTCOMES: Post-operatively, complete knee extension was obtained, the patient was fitted with a cast and extension night splint. She was discharged alive and had no complications. The patient was followed regularly in the orthopedic clinic and had periodic physiotherapy sessions. CONCLUSIONS: ES and isolated dextrocardia concurrence in the presented case resulted from different pathogenic mechanisms. Our findings suggest that ES might be caused by dysfunction in the acetylcholine receptor throughout fetal life, which may have affected muscle strength and movement. Other cardiac conditions include hypoplastic left-sided heart, Hypertrophic cardiomyopathy, patent ductus arteriosus, and heterotaxia.

XANTUS-EL: A real-world, prospective, observational study of patients treated with rivaroxaban for stroke prevention in atrial fibrillation in Eastern Europe, Middle East, Africa and Latin America.

BACKGROUND: The prospective, observational XANTUS study demonstrated low rates of stroke and major bleeding in real-world rivaroxaban-treated patients with non-valvular atrial fibrillation (NVAF) from Western Europe, Canada and Israel. XANTUS-EL is a component of the overall XANTUS programme and enrolled patients with NVAF treated with rivaroxaban from Eastern Europe, the Middle East and Africa (EEMEA) and Latin America. METHODS: Patients with NVAF starting rivaroxaban for stroke prevention were consecutively recruited and followed for 1 year, at approximately 3-month intervals, or for ≥30 days after permanent rivaroxaban discontinuation. Primary outcomes were major bleeding, adverse events (AEs), serious AEs and all-cause mortality. Secondary outcomes included stroke, non-central nervous system systemic embolism (non-CNS SE), transient ischaemic attack (TIA), myocardial infarction (MI) and non-major bleeding. All major outcomes were centrally adjudicated. RESULTS: Overall, 2064 patients were enrolled; mean age ±â€¯standard deviation was 67.1 ±â€¯11.32 years; 49.3% were male. Co-morbidities included heart failure (30.9%), hypertension (84.2%), diabetes mellitus (26.5%), prior stroke/non-CNS SE/TIA (16.2%) and prior MI (10.7%). Mean CHADS2, CHA2DS2-VASc and HAS-BLED scores were 2.0, 3.6 and 1.6, respectively. Treatment-emergent event rates were (events/100 patient-years, [95% confidence interval]): major bleeding 0.9 (0.5-1.4); all-cause mortality 1.7 (1.2-2.4); stroke/non-CNS SE 0.7 (0.4-1.2); any AE 18.1 (16.2-20.1) and any serious AE 8.3 (7.0-9.7). One-year treatment persistence was 81.9%. CONCLUSIONS: XANTUS-EL confirmed low stroke and major bleeding rates in patients with NVAF from EEMEA and Latin America. The population was younger but with more heart failure and hypertension than XANTUS; stroke/SE rate was similar but major bleeding lower.

Prevalence and predictors of myocardial ischemia by preoperative myocardial perfusion single photon emission computed tomography in patients undergoing noncardiac surgery.

BACKGROUND: The prevalence and predictors of myocardial ischemia before noncardiac surgery are unknown. In addition the predictive value of myocardial perfusion single-photon emission computed tomography (SPECT) before noncardiac in individual patients is uncertain. OBJECTIVE: Evaluate the prevalence and predictors of myocardial ischemia before noncardiac surgery, and determine the postoperative cardiac outcome based on results of myocardial perfusion SPECT. DESIGN: Retrospective. SETTING: Single tertiary care center. PATIENTS AND METHODS: We reviewed the records of adult patients diagnosed with myocardial ischemia by myocardial perfusion SPECT who were undergoing noncardiac surgery. Myocardial perfusion SPECT had been performed within 4 weeks prior to noncardiac surgery requiring general anesthesia. MAIN OUTCOME MEASURES: Prevalence of abnormal myocardial perfusion SPECT results on preoperative evaluation; abnormal myocardial perfusion SPECT results as a predictor for postoperative cardiac events such as cardiac death, nonfatal myocardial infarction, and unstable angina. RESULTS: Of 131 patients who underwent noncardiac surgery from February 2015 to April 2016, 84 (64%) patients were female and the mean (SD) age was 64.1 (13.6) years. The prevalence of abnormal myocardial perfusion SPECT was 18% (24 of 131). Normal myocardial perfusion SPECT was highly predictive (up to 100%), but a positive myocardial perfusion SPECT had low positive predictive value (4%). Variables associated with an abnormal myocardial perfusion SPECT included ischemic heart disease, congestive heart failure, ASA score of 3 or more, limited exercise capacity (less than 4 METs), male sex, hypercholesterolemia, hypertension, smoking, and abnormal ECG. In a multivariable analysis, history of ischemic heart disease and history of smoking were significant predictors of abnormal myocardial perfusion SPECT (P=.001, and .029, respectively). CONCLUSIONS: Because of the low positive predictive value of myocardial perfusion SPECT, utilization of the technique in the workup of cardiac patients undergoing noncardiac surgery has been inappropriate. Myocardial perfusion SPECT should be restricted to only clearly defined appropriate use criteria. LIMITATIONS: Relatively small number of patients and retrospective design.

Overview of exercise stress testing.

Exercise stress testing is a non-invasive, safe and affordable screening test for coronary artery disease (CAD), provided there is careful patient selection for better predictive value. Patients at moderate risk for CAD are best served with this kind of screening, with the exception of females during their reproductive period, when a high incidence of false positive results has been reported. Patients with a high pretest probability for CAD should undergo stress testing combined with cardiac imaging or cardiac catheterization directly. Data from the test, other than ECG changes, should be taken into consideration when interpreting the exercise stress test since it has a strong prognostic value, i.e. workload, heart rate rise and recovery and blood pressure changes. Only a low-level exercise stress test can be performed early post myocardial infarction (first week), and a full exercise test should be delayed 4 to 6 weeks post uncomplicated myocardial infarction. The ECG interpretation with myocardial perfusion imaging follows the same criteria, but the sensitivity is much lower and the specificity is high enough to overrule the imaging part.