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Paediatric cardiac tumours are rare, often benign and carry associations with genetic conditions. Cardiac fibromas are mainly composed of fibroblast and connective tissue . They can lead to symptoms due to obstruction of blood flow or arrythmias. In this case, we report an 8-month-old girl child who presented to paediatric cardiology office for cardiac evaluation given a family history of Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, found to have a large 4×4×6 cm fibroma in the apical lateral free wall of the left ventricle and later presented to the emergency department with cardiac arrest.

Aerococcus species are an infrequent infectious organism and may be misidentified as contaminate on culture. An exception to this interpretation is urinary tract infections (UTI) in elderly men with a urologic co-morbidity; where it is well established that Aerococcus urinae species are often the causative organism. Seldom reports of A. urinae infective endocarditis have been reported in pediatric and adult populations, but those cases typically have structural heart disease (eg. ventricular septal defect, bicuspid aortic valve, etc.). To our knowledge, this is the first report of A. urinae infective endocarditis in a pediatric structurally normal heart. Interestingly, this patient had low risk factors for infective endocarditis, but correlating risk factors for A. urinae UTI including urine with-holding behavior and urinary incontinence due to an overactive bladder. This case is to highlight for those patients presenting with a diagnosis of infective endocarditis and urologic co-morbidity, Aerococcus species should not be considered a contaminate and antibiotics should include coverage for this organism pending cultures.

PurposePrader-Willi syndrome (PWS) is a complex genetic disorder characterized by hyperphagia and morbid obesity with increased cardiopulmonary and hyperphagia-related mortality. Survival trends in PWS were evaluated to assess the impact of modern interventions on mortality risk.MethodsThe Prader-Willi Syndrome Association (USA) 40-year mortality syndrome-specific database of 486 death reports was utilized to examine survival trends in PWS and cohort effects for recent deaths (years 2000-2015, N=331) relative to deaths prior to 2000 (N=94). Cox proportional hazards regression modeling was applied to generate log rank statistics and Kaplan-Meier curves examining sex, cause of death, and cohort.ResultsRisk for all-cause mortality in PWS was 1.5 (95% confidence interval (CI)=1.2-1.9) times higher for the Early than the Recent era cohort reflected in female cardiac failure (hazard ratio (HR)=1.8; 95% CI=1.3-2.6), pulmonary embolism (HR=6.1; 95% CI=1.7-22), and gastrointestinal-related (HR=3.2; 95% CI=1.1-7.4) causes. Accidental deaths in males increased in the Recent era cohort (HR=5.7; 95% CI=1.2-27.1), possibly due to enhanced weight management and mobility. Risk of death from respiratory failure was unchanged.ConclusionWe report measurable increases in survival effecting cardiovascular and gastrointestinal-related causes in PWS most likely attributable to earlier diagnosis and proactive interventions to prevent morbid obesity. More research is needed to address underlying vulnerability to respiratory failure, an unchanged mortality risk in PWS.

Prader&ndash, Willi Syndrome Association (USA) monitors the ongoing health and welfare of individuals with Prader&ndash, Willi syndrome (PWS) through active communication with members by membership surveys and data registries. Thromboembolism and blood clots have emerged in clinical studies as significant risk factors for injury and death in PWS. A 66-item questionnaire was developed by a panel of PWS medical and scientific experts, with input from Prader&ndash, Willi Syndrome Association (USA) leadership, so as to probe their membership on the frequency, risk, and protective factors for venous thromboembolism, pulmonary embolism, and related findings. The characteristics of those with and without a reported history of blood clots and related health factors were tabulated and analyzed. Responses were obtained for 1067 individuals with PWS (554 females and 513 males), and 38 (23 females and 15 males) had a history of blood clots. The individuals with clots did not differ by gender, but were significantly older 32.8 &plusmn, 15 years vs 20.4 &plusmn, 13 years, and were more likely to have a reported history of obesity (76%), edema (59%), hypertension (24%), vasculitis (33%), and family history of blood clots (33%) than those without clots. Growth hormone treatment was more common in individuals without clots. The risk factors for thromboembolism in PWS overlap those commonly observed for the general population.

This is a case of both congenital left ventricular (LV) free wall submitral aneurysm and left atrial appendage aneurysm with 6 years of clinical follow-up. Each lesion is a rare entity, and to the best of our knowledge, this is the first case in medical literature of both lesions occurring in the same patient, raising the likelihood of a common etiology. The workup was initiated in the third trimester of fetal life with irregular heart rate and abnormal fetal ultrasound and echocardiogram at that time. The patient required emergent atrial appendage plication due to blood clot formation and suffered from multiple other complications including ventricular ectopy and surgically induced pseudoaneurysm. Follow-up interval echocardiograms have revealed continued good LV function with persistent LV aneurysm. In review of the case, there were several potential in utero causes including maternal viral upper respiratory infection and bacteriuria with exposure to amoxicillin. These as well as other considerations are discussed along with a brief review of these rare lesions, usual presentation, and known associations.

Hyperphagia and obesity are common features in individuals with Prader-Willi syndrome (PWS). Demographic and cause-of-death data from individuals with PWS were obtained through a national support organization. Four reports of unexpected mortality due to gastric rupture and necrosis were found in 152 reported deaths, accounting for 3% of the causes of mortality. Four additional individuals were suspected to have gastric rupture. Vomiting and abdominal pain, although rare in PWS, were frequent findings in this cohort. The physician should consider an emergent evaluation for gastric rupture and necrosis in individuals with PWS who present with vomiting and abdominal pain.

The pathogenesis of vascular disease is unclear, but genetic factors play an important role. In this study we performed linkage analyses in two families with supravalvular aortic stenosis, an inherited vascular disorder that causes narrowing of major arteries and may lead to cardiac overload and failure. DNA markers on the long arm of chromosome 7 (D7S371, D7S395, D7S448, and ELN) were linked to supravalvular aortic stenosis in both families with a combined logarithm of likelihood for linkage (lod score) of 5.9 at the ELN locus. These findings indicate that a gene for supravalvular aortic stenosis is located in the same chromosomal subunit as elastin, which becomes a candidate for the disease gene.

Prader-Willi syndrome (PWS) is the most common known syndromic cause of life-threatening obesity, yet few studies have examined the causes of death in PWS. The objective of this study was to examine the contribution of choking leading to mortality in PWS. In 1999, a brief survey was made available from the Prader-Willi Syndrome Association (USA) bereavement program, which documented demographic data and causes of death. Families were subsequently offered the opportunity to fill out a detailed questionnaire and additional forms to release medical records. Demographic information was available on 178 deceased individuals with PWS, and cause of death available on 152 individuals. Fifty-four families completed questionnaires. Of the deceased individuals with completed questionnaires, 34% reported a history of choking. Choking was listed by familial report as the cause of death in 12 (7.9%) of 152 subjects with an average age of 24 years (range 3-52 years; median 22.5 years) at death from choking. Only two of these individuals were less than 8 years of age. The data suggest that risks associated with choking are different in the PWS population compared with others. Potential causes of increased choking in PWS include poor oral/motor coordination, poor gag reflex, hypotonia, hyperphagia, decreased mastication, and voracious feeding habits. We recommend implementation of preventive measures and education for families and group home care providers for all individuals with PWS including the Heimlich maneuver, supervised meals, better food preparation, and diet modification to avoid high-risk choking items.