Pericardial Disease, Myocardial Disease, and Great Vessel Abnormalities in Horses.

Pericardial, myocardial, and great vessel diseases are relatively rare in horses. The clinical signs are often nonspecific and vague, or related to the underlying cause. Physical examination usually reveals tachycardia, fever, venous distension or jugular pulsation, a weak or bounding arterial pulse, ventral edema, and abnormal cardiac auscultation such as arrhythmia, murmur, or muffled heart sounds. The prognosis depends on the underlying cause and the disease progression, and ranges from full recovery to poor prognosis for survival. This article focuses on the etiology, diagnosis, prognosis, and treatment of pericarditis, pericardial mass lesions, myocarditis, cardiomyopathy, and great vessel aneurysm or rupture.

Nonmotor symptoms evolution during 24 months of bilateral subthalamic stimulation in Parkinson's disease.

BACKGROUND: The objective of this study was to investigate 24-month of effects of bilateral subthalamic nucleus (STN) deep brain stimulation (DBS) on nonmotor symptoms in Parkinson's disease (PD). METHODS: In this prospective, observational, multicenter, international study including 67 PD patients undergoing bilateral STN-DBS, we examined the Non-motor Symptom Scale, Non-Motor Symptoms Questionnaire, Parkinson's Disease Questionnaire-8, Scales for Outcomes in Parkinson's Disease-motor examination, -activities of daily living, and -complications, and levodopa-equivalent daily dose preoperatively and at 5 and 24-month of follow-up. After checking distribution normality, longitudinal outcome changes were investigated with Friedman tests or repeated-measures analysis of variance and Bonferroni correction for multiple comparisons using multiple tests. Post hoc, Wilcoxon signed rank t tests were computed to compare visits. The strength of clinical responses was analyzed using effect size. Explorative Spearman correlations of change scores from baseline to 24-month follow-up were calculated for all outcomes. RESULTS: The Non-motor Symptom Scale and all other outcome parameters significantly improved from baseline to the 5-month follow-up. From 5 to 24-month, partial decrements in these gains were found. Nonetheless, comparing baseline with 24-month follow-up, significant improvements were observed for the Non-motor Symptom Scale (small effect), Scales for Outcomes in PD-motor examination showed a moderate effect, and Scales for Outcomes in Parkinson's Disease-complications and levodopa-equivalent daily dose showed large effects. Non-motor Symptom Scale change scores from baseline to 24-month follow-up correlated significantly with Parkinson's Disease Questionnaire-8, Scales for Outcomes in Parkinson's Disease-activities of daily living, and -motor complications change scores. CONCLUSIONS: This study provides evidence of beneficial effects of bilateral STN-DBS on nonmotor symptoms at 24-month follow-up. The extent of nonmotor symptom improvement was directly proportionate to improvements in quality of life, activities of daily living, and motor complications. This study underlines the importance of nonmotor symptoms for holistic assessments of DBS outcomes. © 2018 International Parkinson and Movement Disorder Society.

Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.

Myhre syndrome is a rare, distinctive syndrome due to specific gain-of-function mutations in SMAD4. The characteristic phenotype includes short stature, dysmorphic facial features, hearing loss, laryngotracheal anomalies, arthropathy, radiographic defects, intellectual disability, and a more recently appreciated spectrum of cardiovascular defects with a striking fibroproliferative response to surgical intervention. We report four newly described patients with typical features of Myhre syndrome who had (i) a mildly narrow descending aorta and restrictive cardiomyopathy; (ii) recurrent pericardial and pleural effusions; (iii) a large persistent ductus arteriosus with juxtaductal aortic coarctation; and (iv) restrictive pericardial disease requiring pericardiectomy. Additional information is provided about a fifth previously reported patient with fatal pericardial disease. A literature review of the cardiovascular features of Myhre syndrome was performed on 54 total patients, all with a SMAD4 mutation. Seventy percent had a cardiovascular abnormality including congenital heart defects (63%), pericardial disease (17%), restrictive cardiomyopathy (9%), and systemic hypertension (15%). Pericarditis and restrictive cardiomyopathy are associated with high mortality (three patients each among 10 deaths); one patient with restrictive cardiomyopathy also had epicarditis. Cardiomyopathy and pericardial abnormalities distinguish Myhre syndrome from other disorders caused by mutations in the TGF-ß signaling cascade (Marfan, Loeys-Dietz, or Shprintzen-Goldberg syndromes). We hypothesize that the expanded spectrum of cardiovascular abnormalities relates to the ability of the SMAD4 protein to integrate diverse signaling pathways, including canonical TGF-ß, BMP, and Activin signaling. The co-occurrence of congenital and acquired phenotypes demonstrates that the gene product of SMAD4 is required for both developmental and postnatal cardiovascular homeostasis. © 2016 Wiley Periodicals, Inc.

Hybrid repair of ruptured type B aortic dissection extending into an aberrant right subclavian artery in a patient with Turner's syndrome.

Turner's syndrome (TS) has been documented as the most common cause of aortic dissection in young women. However, little attention from vascular surgery has been paid to these patients. We report the first case of ruptured type B aortic dissection with aberrant right subclavian artery treated successfully with hybrid endovascular and open procedures in a patient with TS. Left carotid to subclavian artery bypass, thoracic endovascular aortic repair, and coil embolization of the aberrant right subclavian and left subclavian arteries were performed in an emergency setting. Literature on epidemiology, causes, and management options of acute aortic dissection in TS patients are reviewed and discussed.

Toward deconstructing the phenotype of late-onset Pompe disease.

Pompe disease (glycogen storage disease type 2 or acid maltase deficiency) is a rare autosomal recessive lysosomal storage disorder. Since the advent of ERT a lot has been learned about the phenotypic spectrum especially in the late onset patients. We describe in detail 44 patients diagnosed with late-onset Pompe disease (LOPD) at our neuromuscular department from 1985 to 2011 and compare them to patients with LOPD in the literature of the past 40 years. Study of the Munich LOPD group revealed varying musculoskeletal and cardio-cerebrovascular manifestation patterns. Several of these symptom patterns commonly appeared in conjunction with one another, highlighting the multisystem involvement of this condition. Common symptom patterns include: (i) Classic limb girdle and diaphragmatic weakness, (ii) rigid spine syndrome (RSS), scoliosis, and low body mass, and (iii) several cardio-cerebrovascular manifestation patterns. The most common presentation, limb girdle and diaphragmatic weakness, appeared in 78% (34/44) of our patients and over 80% of those in the literature. Sixteen percent (7/44) of our patients presented with rigid spine, scoliosis, and low body mass. Although scoliosis had a reported frequency of 33% in the general LOPD patient population, the literature only occasionally reported low body mass and RSS. Importantly, a multisystem extramuscular finding accompanied by cardio-cerebrovascular manifestations was found in 29% (13/44) of our LOPD patients; the literature showed an increasing prevalence of this latter finding. By examining the phenotype of patients with confirmed LOPD, we found a more subtle clinical multisystem involvement in LOPD. Whether patients presenting with the different symptom patterns respond differently to enzyme replacement therapy remains a key question for future research. © 2012 Wiley Periodicals, Inc.

Extracellular Vesicles and Biomaterial Design: New Therapies for Cardiac Repair.

There is increasing evidence that extracellular vesicles (EVs) mediate the paracrine effects of stem cells. Although EVs have several attractive characteristics, they also raise issues related to delivery. For patients with cardiac disease that require a surgical procedure, direct intramyocardial (IM) administration of EVs is straightforward but its efficacy may be limited by fast wash-out, hence the interest of incorporating EVs into a controlled release polymer to optimize their residence time. For patients without surgical indication, the intravenous (IV) route is attractive because of its lack of invasiveness; however, whole-body distribution limits the fraction of EVs that reach the heart, hence the likely benefits of EV engineering to increase EV homing to the target tissue.

Cardiovascular abnormalities, interventions, and long-term outcomes in infantile Williams syndrome.

OBJECTIVE: To determine the prevalence of cardiovascular abnormalities (CVA) and outcomes in patients with Williams syndrome presenting before 1 year of age. STUDY DESIGN: A retrospective review was undertaken of consecutive patients with WS at our institution from January 1, 1980, through December 31, 2007. WS was diagnosed by an experienced medical geneticist and/or by fluorescence in situ hybridization. CVA were diagnosed with the use of echocardiography, cardiac catheterization, or computerized tomographic angiography. Freedom from intervention was determined using Kaplan-Meier analysis. RESULTS: The study group was 129 patients with CVA. Age at presentation was 127 +/- 116 days, with follow-up of 8.0 +/- 7.5 years (0 to 42 years). The most common lesions were peripheral pulmonary artery stenosis (62%) and supravalvar aortic stenosis (57%). Other CVA were common. CV interventions were performed in 29%, with 58% of those before 1 year. Freedom from intervention was 85%, 73%, and 66% at 1, 5, and 25 years, respectively. Four patients died. CONCLUSIONS: CVA are the most common manifestations of infantile Williams syndrome and occur with greater frequency than previously reported. In those with CVA, interventions are common and usually occur by 5 years of age. Most of these patients do not require intervention on long-term follow-up, and overall mortality is low.

[Anatomy variation of coronary vein system in patients with ischemic heart disease and non-ischemic].

OBJECTIVE: The purpose of this study was to analyze the anatomy variation of coronary vein system in patients with ischemic heart disease (IHD) and non-ischemic heart disease (NIHD). METHOD: Forty-one patients with IHD and 87 patients with NIHD [101 men, mean age (63.5 +/- 10.6) years] were included in this study. RESULTS: Coronary sinuses were successfully cannulated and venographies were obtained in 127 cases. Transvenous LV pacing leads were successfully placed in optimal coronary vein in 123 cases (96.09%). The majority (76.38%) patients had at least one or more vessel abnormalities (thinness, stenosis, tortuousity, lack of lateral marginal vein or postero-lateral vein). The incidence of thin and tortuousity was significantly higher in lateral marginal vein than that in postero-lateral vein (P < 0.05-0.01). The incidence of lack of postero-lateral marginal vein was more frequent than the lack of lateral vein (P < 0.05). The rate of abnormality in both vessels was 25.2%. Incidence of vein lack in male was more frequent than in female (P < 0.05). The thin and tortuousity of vessels in female were more frequent than in male (P < 0.05). The incidence of thin and tortuousity of postero-lateral and abnormality of both vessels was significantly higher in IHD than in NIHD patients (P < 0.05). All coronary sinus myocardial bridges occurred in NIHD. Stenoses of left anterior descending (LAD) and left circumflex (LCX) were mostly associated with abnormality of lateral vessels. CONCLUSIONS: The anatomic variations of lateral and postero-lateral coronary vein were more frequent in this patient cohort. Vein lack in male was more frequent and the thin and tortuousity of vessels were less in male than in female patients. The ratio of vessel abnormality is higher in patients with IHD. Coronary arteries stenosis and position of infarction are associated with anatomic variations of coronary vein system.

Characterization and therapeutic applications of mesenchymal stem cells for regenerative medicine.

BACKGROUND: Mesenchymal stem cells (MSCs) are multipotent, genomic stable, self-renewable, and culturally expandable adult stem cells. MSCs facilitate tissue development, maintenance and repair, and produce secretory factors that support engraftment and trophic functions, marking them an attractive option in cell therapy, regenerative medicine and tissue engineering. METHOD: In this review, we summarize the recent researches regarding the isolation and characterization of MSCs, therapeutic applications and advanced engineering techniques. We also discuss the advantages and limitations that remain to be overcome for MSCs based therapy. RESULTS: It has been demonstrated that MSCs are able to modulate endogenous tissue and immune cells. Preclinical studies and early phase clinical trials have shown their great potential for tissue engineering of bone, cartilage, marrow stroma, muscle, fat, and other connective tissues. CONCLUSIONS: MSC-based therapy show considerable promise to rebuild damaged or diseased tissues, which could be a promising therapeutic method for regeneration medicine.

Health Care Supervision for Children With Williams Syndrome.

This set of recommendations is designed to assist the pediatrician in caring for children with Williams syndrome (WS) who were diagnosed by using clinical features and with chromosome 7 microdeletion confirmed by fluorescence in situ hybridization, chromosome microarray, or multiplex ligation-dependent probe amplification. The recommendations in this report reflect review of the current literature, including previously peer-reviewed and published management suggestions for WS, as well as the consensus of physicians and psychologists with expertise in the care of individuals with WS. These general recommendations for the syndrome do not replace individualized medical assessment and treatment.

Cardiovascular abnormalities in patients with major depressive disorder: autonomic mechanisms and implications for treatment.

This article provides a detailed review of the association of major depression with coronary heart disease (CHD), examines the biological variables underpinning the linkage and discusses the clinical implications for treatment. When considering the co-morbidity between major depressive disorder (MDD) and CHD it is important to differentiate between (i) the prevalence and impact of MDD in those with existing CHD and (ii) MDD as a risk factor for the development of CHD. Whether the same biological mechanisms are at play in these two instances remains unknown. Depression is common in patients with CHD. Importantly, depression in these patients increases mortality. There is also consistent evidence that MDD is a risk factor for the development of CHD. The relative risk of developing CHD is proportional to the severity of depression and is independent of smoking, obesity, hypercholesterolaemia, diabetes mellitus and hypertension. There is a clear need to identify the underlying neurochemical mechanisms responsible for MDD and their linkage to the heart and vascular system. Of particular interest are activation of stress pathways, including both the sympathetic nervous system and hypothalamic-pituitary-adrenal axis, and inflammatory-mediated atherogenesis. Elevated sympathetic activity, reduced heart rate variability and increased plasma cortisol levels have been documented in patients with MDD. In addition to direct effects on the heart and vasculature, activation of stress pathways may also be associated with increased release of inflammatory cytokines such as interleukin-6 and tumour necrosis factor-alpha. Elevated levels of C-reactive protein are commonly observed in patients with MDD. The majority of investigations examining treatment of depression following myocardial infarction have focused on safety and efficacy; there is little evidence to indicate that treating depression in these patients improves survival. Given that strategies for preventive therapy remain incompletely formulated, future research should focus on generating a better understanding of the neurobiology of MDD and heart disease as a basis for rational and effective therapy.

Is endoscopic band ligation superior to injection therapy for Dieulafoy lesion?

BACKGROUND: Dieulafoy lesion is a rare but serious cause of gastrointestinal system bleeding. An aberrant submucosal artery, which was described in 1884, causes the bleeding. The lesion can be located anywhere in the gastrointestinal tract but is most commonly found in the proximal stomach up to 6 cm from the gastroesophageal junction. Increased experience in endoscopy has led to an increased frequency of its proper diagnosis. Various methods are used to achieve successful hemostasis by endoscopy in Dieulafoy lesion; however, comparative studies about the success rates of these methods are still needed. In this study, we compared two of these endoscopic hemostatic methods: band ligation, and injection therapy in Dieulafoy lesions. METHODS: In this prospective study, 18 patients admitted to the Emergency Surgical Unit between January 2002 and December 2005 with upper gastrointestinal bleeding diagnosed as Dieulafoy lesion were included. Diagnose of Dieulafoy lesion was made at initial or second-look endoscopy. Patients were randomized in two groups according to therapy method: injection therapy and band ligation groups. Therapy was applied immediately after recognizing the lesion at the same endoscopic procedure. Two groups were compared regarding demographical data, presence of comorbid diseases, history of medication and previous gastrointestinal system bleeding, hemodynamic status, laboratory values, need for transfusion, endoscopic findings, success rate of the treatment method, mean hospital stay, complications, and recurrence of bleeding. RESULTS: Of 588 patients admitted with upper gastrointestinal hemorrhage, Dieulafoy lesion was recognized in 18 cases (3.1%) at initial or second-look endoscopy. All patients were men with a mean age of 62.8 (range, 30-80) years. Band ligation was applied to ten patients and the remaining eight were treated by injection therapy. During the follow-up period, rebleeding occurred in six of the patients (75%) with injection therapy, whereas no rebleeding occurred for the patients in the band ligation group. The rebleeding rate and mean hospital stay was significantly higher for the injection therapy group. CONCLUSIONS: Our study suggests that of the endoscopic treatment methods, band ligation is superior to injection therapy for the treatment Dieulafoy lesions.

Successful transcatheter closure of a large patent ductus venosus with the Amplatzer vascular plug II.

Patent ductus venosus is a rare form of congenital portosystemic shunt from the fetal umbilical vein to the inferior vena cava. The reported surgical treatments include ligation, banding, and liver transplantation. In addition, transcatheter closure with a coil, stent, or original Amplatzer vascular plug (AVP) has been reported. The AVP II, a redesigned version of the original vascular plug with a finer more densely woven nitinol wire and a large diameter (up to 22 mm) is available. This reported case is the first successful occlusion of a large patent ductus venosus with the new AVP II.

Fetal therapy in twin reserve arterial perfusion sequence pregnancies with alcohol ablation or bipolar cord coagulation.

OBJECTIVE: We aimed to evaluate perinatal outcome of seven pregnancies with twin reserve arterial perfusion sequence. MATERIALS AND METHODS: Study group included seven cases of acardiac twins. Out of seven acardiac twins, two cases were followed without interventions. We performed four alcohol ablation and one bipolar coagulation. For alcohol ablation, a 20-gauge needle guided with color Doppler USG was directed to abdominal insertion site of the single umbilical artery of the acardiac twin, and 1.0-2.0 mL of absolute alcohol was injected. For bipolar coagulation of the umbilical cord, we used 3.5 mm laparoscopic trocar and 3.0 mm bipolar forceps. The procedures were performed under the guidance of transabdominal ultrasonography. RESULTS: Gestational age of the cases at diagnosis and at delivery was 15-32 and 17-38 weeks, respectively. Two cases without intervention were lost at 17 and 32 weeks. The mean time of procedure for bipolar coagulation and alcohol ablation were 30 and 10 min, respectively. One of the four cases of alcohol ablation group was aborted although alcohol ablation was successful. Another one case was aborted after alcohol ablation due to lost of fetal cardiac activity of the pump fetus. In two other cases, umbilical cord ablation with alcohol was successful, and they delivered live birth at 36 and 38 weeks. In one case, we performed bipolar cord coagulation successfully, and the case delivered live birth at 39 weeks. The overall survival rate for intrauterine surgery was 60% (N 3/5). CONCLUSION: In twin reserve arterial perfusion sequence pregnancies with findings of poor prognosis, alcohol ablation or bipolar cord coagulation as fetal therapy under the guidance of ultrasonography can be done successfully, and should be offered as a choice to families upon discussion of intervention or follow-up with own complications.

Feasibility and Health Effects of a 15-Week Combined Exercise Programme for Sedentary Elderly: A Randomised Controlled Trial.

There is strong evidence that considerable health benefits can be achieved even with small amounts of physical activity. However, getting people to exercise regularly is a major challenge not least in the elderly population. This study investigated the feasibility and physiological health effects of a pragmatic 15-week exercise programme for sedentary elderly. In a single-blind randomised controlled trial, 45 sedentary 60-83-year-olds (25 women, 20 men) were randomly assigned (2:1 ratio) to a training group (TG, n=30) or a control group (CG, n=15). The training in TG consisted of a combination of exercise modalities (i.e., strength, aerobic fitness, stability, and flexibility training) performed once a week as supervised group-based training and a weekly home-based training for 15 weeks. Feasibility outcomes were exercise intensity, adherence, and adverse events. The primary outcome was change in aerobic fitness (VO2max/kg). Adherence was high (81%) for the supervised exercise and low (0%) for the home-based exercise. No acute injuries occurred in TG, but 4 subjects (13%) reported considerable joint pain related to training. Average heart rate (HR) during the supervised training was 104±12 beats/min (69.3±8.0%HRmax), with 3.9±7.3% of training time >90%HRmax. Intention-to-treat analyses revealed no between-group differences for aerobic fitness (P=0.790) or any secondary cardiovascular outcomes at 15-week follow-up (resting HR or blood pressure; P>0.05). Compared to CG, bodyweight (-2.3 kg, 95% CI -4.0 to -7.0; P=0.006), total fat mass (-2.0 kg, 95% CI -3.5 to -0.5; P=0.01), and total fat percentage (-1.6%, 95% CI -2.8 to -0.3; P=0.01) decreased in TG. The group-based supervised training had high adherence and moderate exercise intensity, whereas the home-based training was not feasible in this study population. This exercise programme performed once a week did not improve aerobic fitness. Thus, supervised training with more vigorous intensity control appears advisable. Clinical Study registration number is H-15016951.

Circulatory emergencies in the delivery room.

The transition from fetal to neonatal life is a dramatic and complex process involving extensive physiologic changes, which are most obvious at the time of birth. Individuals who care for newly born infants must monitor the progress of the transition and be prepared to intervene when necessary. In the majority of births, this transition occurs without a requirement for any significant assistance. If newborns require assistance, the majority of the time respiratory support is all that is required. In some instances, however, there are circulatory emergencies that need to be rapidly identified or there may be dire consequences including death in the delivery room. This chapter will review various pathologies that are circulatory emergencies, and discuss how to assess them. We will also review new technologies which may help providers better understand the circulatory status or hemodynamic changes in the delivery room including heart rate, cardiac output, cerebral oxygenation and echocardiography.

Simple Endovascular Repair for Symptomatic Aberrant Right Subclavian Artery in a Debilitated Patient.

We report a simple endovascular repair for symptomatic aberrant right subclavian artery (ARSA) in an 11-year-old girl. She had undergone tracheostomy due to hypoxic encephalopathy after cardiac surgery and suffered from dyspnea. Computed tomography revealed tracheal stenosis caused by a vascular ring made with an ARSA and the right common carotid artery. Transcatheter ARSA embolization using an Amplatzer vascular plug and coils was performed. Symptoms improved within a few days after this intervention and no complications such as upper extremity ischemia were encountered. Computed tomography showed the ARSA around the trachea had reduced in size and tracheal stenosis was improved.

Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management.

Cardiovascular abnormalities, especially structural congenital heart defects, commonly occur in malformation syndromes and genetic disorders. Individuals with syndromes comprise a significant proportion of those affected with selected congenital heart defects such as complete atrioventricular canal, interrupted arch type B, supravalvar aortic stenosis, and pulmonary stenosis. As these individuals age, they contribute to the growing population of adults with special health care needs. Although most will require longterm cardiology follow-up, primary care providers, geneticists, and other specialists should be aware of (1) the type and frequency of cardiovascular abnormalities, (2) the range of clinical outcomes, and (3) guidelines for prospective management and treatment of potential complications. This article reviews fundamental genetic, cardiac, medical, and reproductive issues associated with common genetic syndromes that are frequently associated with a cardiovascular abnormality. New data are also provided about the cardiac status of adults with a 22q11.2 deletion and with Down syndrome.