Cardiac fibroma with cardiac arrest: a rare clinical presentation of Gorlin syndrome in an 8-month-old infant.

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.

Venous Thromboembolism in Prader-Willi Syndrome: A Questionnaire Survey.

Prader-Willi Syndrome Association (USA) monitors the ongoing health and welfare of individuals with Prader-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-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 ± 15 years vs 20.4 ± 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.

Congenital aneurysm of both left ventricle and left atrium.

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.

Survival trends from the Prader-Willi Syndrome Association (USA) 40-year mortality survey.

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.

Causes of death in Prader-Willi syndrome: Prader-Willi Syndrome Association (USA) 40-year mortality survey.

BACKGROUND: Prader-Willi syndrome (PWS) is a rare, complex, neurodevelopmental genetic disorder that is associated with hyperphagia and morbid obesity in humans and leads to a shortened life expectancy. This report summarizes the primary causes of death and evaluates mortality trends in a large cohort of individuals with PWS. METHODS: The US Prader-Willi Syndrome Association (PWSA (USA)) syndrome-specific database of death reports was collected through a cursory bereavement program for PWSA (USA) families using a brief survey created in 1999. Causes of death were descriptively characterized and statistically examined using Cox proportional hazards. RESULTS: A total of 486 deaths were reported (263 males, 217 females, 6 unknown) between 1973 and 2015, with mean age of 29.5 ± 16 years (2 months-67 years); 70% occurred in adulthood. Respiratory failure was the most common cause, accounting for 31% of all deaths. Males were at increased risk for presumed hyperphagia-related accidents/injuries and cardiopulmonary factors compared to females. PWS maternal disomy 15 genetic subtype showed an increased risk of death from cardiopulmonary factors compared to the deletion subtype. CONCLUSIONS: These findings highlight the heightened vulnerability to obesity and hyperphagia-related mortality in PWS. Future research is needed to address critical vulnerabilities such as gender and genetic subtype in the cause of death in PWS.Genet Med advance online publication 17 November 2016.