Case report: Distinctive cardiac features and phenotypic characteristics of Noonan syndrome with multiple lentigines among three generations in one family.

Noonan syndrome with multiple lentigines (NSML, formerly known as LEOPARD syndrome) is a variant of Noonan syndrome which is an autosomal dominant disorder. Most cases of NSML are secondary to mutations of the protein-tyrosine phosphatase nonreceptor type 11 (PTPN11). Hypertrophic cardiomyopathy (HCM) remains the most frequent and serious cardiac abnormality in this inherited syndrome, and it may lead to sudden cardiac death related to HCM-associated outflow obstruction and fatal arrhythmia. Beyond cardiac involvement, NSML may present with multiple lentigines, ocular hypertelorism, genital anomalies, short stature and deafness. Herein, we report three patients with NSML among three generations in one family, all presenting with multiple lentigines, HCM and other distinctive clinical and molecular features, including facial dysmorphism, deafness, family history of sudden death and PTPN11 mutations. This case series highlights the importance of early echocardiography examinations for patients with NSML. Careful family screening and genetic counselling are also necessary, especially in patients with diffuse lentigines or a history of sudden death among family members. We also discuss the distinctive cardiac features and phenotypic characteristics at different stages of NSML, including childhood, adulthood and elderhood.

Protocol for Home-Based Solution for Remote Atrial Fibrillation Screening to Prevent Recurrence Stroke (HUA-TUO AF Trial): a randomised controlled trial.

INTRODUCTION: Current international guidelines recommend ECG monitoring after an ischaemic stroke to detect atrial fibrillation (AF) in order to prevent stroke recurrence. However, optimal strategies to detect AF and the downstream management to prevent stroke recurrence remain to be established. The objective of the study was to explore the use of long-term home-based ECG monitoring for AF detection and stroke prevention in patients with a history of stroke. METHODS AND ANALYSIS: This prospective, randomised, open-label trial with blinded endpoint adjudication aimed to evaluate the efficacy of long-term home-based ECG monitoring for AF detection and stroke prevention in a 24-month period. Patients aged >18 years with a history of ischaemic stroke will be stratified according to the time from the index ischaemic stroke: <1, 1-3 and >3 years and then randomised in 1:1 to (1) home-based AF screening and (2) control. The home-based AF screening system comprises (1) a handheld single-lead ECG recorder (Comfit Healthcare Devices, Hong Kong SAR, China) and (2) a patient-facing smartphone application specially designed for the study. Patients randomised to the home-based AF group will record a 30 s single-lead ECG using a specially designed handheld ECG device every morning or when symptomatic. All remotely obtained data will be automatically transmitted in real-time through the study smartphone application to a secured cloud hosting and analysed using an artificial intelligence-based diagnostic system. When a diagnosis of AF is made with the system, the patients will be called back for a formal cardiology consultation within 1 week. The primary endpoint is the time to first detection of AF at 24 months of follow-up. Secondary endpoints include recurrent stroke or transient ischaemic attack, initiation of long-term anticoagulation therapy, hospitalisation for heart failure, cardiovascular death and all-cause death. ETHICS AND DISSEMINATION: The study protocol has been approved by the institutional review board of The University of Hong Kong, and Hong Kong West Cluster, Hospital Authority, Hong Kong SAR, China. Results will be published in peer-reviewed journals. TRIAL REGISTRATION NUMBER: NCT04523649.

Polymorphic Ventricular Tachycardia Associated with High-Dose Methadone Use.

Methadone is a well-tolerated drug that has been used for pain control and the treatment of opioid addiction. However, some fatal cardiac side effects have been reported previously, including ventricular arrhythmia, stress cardiomyopathy, and coronary artery disease. We reported a middle-aged woman receiving high-dose methadone whom was presented with QT prolongation and torsade de pointes. We replaced the methadone with benzodiazepine and gave lidocaine use simultaneously. Thus, QT interval was shortened within the normal limit. Methadone-induced torsade de pointes is a rare but serious event, and QT interval should be monitored periodically to prevent this fatal adverse event, especially some patients with high-dose methadone use.

The aging burden of hospitalization for heart failure in Chinese populations: evidence from the Macao Heart Failure Study.

OBJECTIVE: To assess the aging burden of hospitalization for heart failure in Chinese populations in Macao. METHODS: The Macao Heart Failure Study consists of patients hospitalized with a diagnosis of acute heart failure (AHF) at Centro Hospitalar Conde de São Januário (the only public hospital that provides medical care for the approximately 600, 000 residents of Macao) from January 2014 to December 2016. First, we investigated the relationship between socioeconomic development and epidemiological characteristics of HF in Macao. Then we assessed the patientso clinical features and outcomes according to the age groups. RESULTS: A total of 967 patients were included in the final analysis. The median age at admission was 82 years old. The advanced age at the admission of HF in Macao was significantly associated with a high-income level and the aging population structure. Marked heterogeneity existed in the epidemiological characteristics, clinical features, utilization of evidence-based therapies, short- and long-term outcomes, and prognostic utility of clinical variables among the different age groups. CONCLUSION: Rapid economic development and significantly aging populations have produced a profound impact on the epidemiological characteristics of HF in Chinese populations. Acute decompensated heart failure (ADHF) is predominantly a disease of the elderly in Macao, and a significant heterogeneity exists in the clinical features, managements, and outcomes among different age groups. Age-based risk stratification models and multidisciplinary HF teams are urgently needed to improve the management and outcomes of hospitalized heart failure (HHF) patients.

IgG4-Related Aortitis.

Immunoglobulin G4-related disease (IgG4-RD) is a systemic immune-mediated fibroinflammatory condition characterized by tumefactive lesions that can affect multiple organs. Serum IgG4 levels may be elevated. Early recognition is sometimes difficult but is important to avoid irreversible organ damage. We describe the case of a 28-year-old male patient who presented with a 2-year history of recurrent low-grade fever, night sweats and non-specific manifestations. We eventually diagnosed IgG4-related aortitis by PET-CT scan. The patient was successfully treated with prednisolone and mycophenolate mofetil with complete clinical and radiological resolution. LEARNING POINTS: IgG4-related disease is a systemic immune-mediated disease that can affect many organs and systems.Aortitis can be one of the differential diagnoses in patients with fever of unknown origin, back pain and other unspecific symptoms.Delayed diagnosis and treatment may cause major complications or irreversible damage, so timely diagnosis and appropriate treatment is very important.

Rationale and design of the screening of pulmonary hypertension in systemic lupus erythematosus (SOPHIE) study.

Current guideline-recommended screening for pulmonary hypertension in patients with systemic sclerosis has not been evaluated in systemic lupus erythematosus (SLE), which is disproportionately prevalent in Asians. This multicentre, cross-sectional screening study aims to study the prevalence of pulmonary hypertension among SLE patients using these guidelines, and identify independent predictors and develop a prediction model for pulmonary hypertension in SLE patients. SLE patients from participating centres will undergo an echocardiography- and biomarker-based pulmonary hypertension screening procedure as in the DETECT study. Standard right heart catheterisation will be provided to patients with intermediate or high echocardiographic probability of pulmonary hypertension. Those with low echocardiographic probability will rescreen within 1 year. The primary measure will be the diagnosis and types of pulmonary hypertension and prevalence of pulmonary hypertension in SLE patients. The secondary measures will be the predictors and prediction models for pulmonary hypertension in SLE patients. The estimated sample size is approximately 895 participants. The results of the SOPHIE study will be an important contribution to the literature of SLE-related pulmonary hypertension and may be immediately translatable to real clinical practice. Ultimately, this study will provide the necessary evidence for establishing universal guidelines for screening of pulmonary hypertension in SLE patients.