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.

Comparing the effectiveness and safety of dual antiplatelet with ticagrelor or clopidogrel in elderly Asian patients with acute myocardial infraction.

Background: Current guidelines recommend potent P2Y12 inhibitors for patients after acute coronary syndrome. However, the data on the efficacy and safety of potent P2Y12 inhibitors in elderly Asian populations was limited. We aimed to investigate the major adverse cardiovascular events (MACE), bleeding events, and net adverse clinical events (NACE) with ticagrelor and clopidogrel in Taiwanese patients aged 65 and older after acute myocardial infarction (AMI). Methods: This retrospective population-based cohort study was conducted using data from the National Health Insurance Research Database. The AMI patients aged ≥65 years who underwent percutaneous coronary intervention (PCI) and survived after 1 month were included. The patients were separated into 2 cohorts depending on the type of dual antiplatelet therapy (DAPT) they received: ticagrelor plus aspirin (T + A) or clopidogrel plus aspirin (C + A). We used inverse probability of treatment weighting to balance the difference between these 2 study groups. The outcome included all-cause mortality, MACE (cardiovascular death, nonfatal ischemic stroke, and nonfatal myocardial infarction), intracerebral hemorrhage, major bleeding, and NACE which is composed of cardiovascular death, ischemic and hemorrhagic events. The follow-up period was up to 12 months. Results: From 2013 to 2017, a total of 14,715 patients who met the eligibility criteria were separated into 2 groups: 5,051 for T + A and 9,664 for C + A. Compared to patients with C + A, patients who received T + A had a lower risk of cardiovascular death and all-cause death, with an adjusted HR of 0.57 [95% confidence interval (CI), 0.38-0.85, p = 0.006] and 0.58 (95% CI 0.45-0.74, p < 0.001), respectively. No differences were found in MACE, intracranial and major bleeding between the 2 groups. In addition, the patients with T + A had a lower risk of NACE with an adjusted HR of 0.86 (95% CI 0.74-1.00, p = 0.045). Conclusion: Among elderly AMI patients receiving DAPT after successful PCI, ticagrelor was a more favorable P2Y12 inhibitor than clopidogrel because of lowering the risk of death and NACE without increasing the risk of severe bleeding. Ticagrelor is an effective and safe P2Y12 inhibitor in Asian elderly survivors after PCI.

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.

Superior vena cava syndrome complicated with acute pulmonary thromboembolism in a patient with lung cancer.

Thrombosis involving the subclavian vein and superior vena cava is relatively common, especially in cancer patients. Edema of the arms and head is a well-known clinical consequence of this thrombosis. The intrinsic risk of pulmonary embolism has not been reported previously. Herein, we describe the case of a 63-year-old male patient with extensive stage small cell lung cancer who developed superior vena cava syndrome. Pulmonary thromboembolism was complicated after receiving systemic chemotherapy and localized radiotherapy. .

Association of Anti-Ro/Sjögren's syndrome type A Antibodies and Complete Atrioventricular Block in an Adult With Sjögren's Syndrome.

A 57-year-old female patient with underlying hypertension, dyslipidemia, membranous glomerulonephritis, and Sjögren's syndrome presented to our clinic with near-syncope and dizziness symptoms. We detected non-conducted sinus beat in 12-lead electrocardiography. An echocardiography showed that the left ventricular systolic function was preserved without a regional wall abnormality. The patient did not have symptoms of congestive heart failure or recent myocardial infarction. We observed complete atrioventricular block with longest pause of 6.2 seconds in a 24-hour Holter electrocardiography, and subsequently implanted a permanent pacemaker. Anti-Ro/Sjögren's syndrome type A antibodies are commonly seen in Sjögren's syndrome and associated with a neonatal complete heart block. The pathogenesis of anti-Ro/Sjögren's syndrome type A antibodies in the conduction system of an adult heart is still uncertain. In this article, we report Sjögren's syndrome in an adult patient with complete atrioventricular block and membranous glomerulonephritis, which may be associated with a positive titer of anti-Ro/Sjögren's syndrome type A antibodies.

Silent and Malignant Early Repolarization Syndrome Mimicking Hyper-Acute ST Elevation Myocardial Infarction.

A 55-year-old male with underlying type 2 diabetes mellitus and hypertension presented at our emergency department with ventricular fibrillation-related cardiac arrest. Hyper-acute ST elevation myocardial infarction was the preliminary diagnosis by 12-lead electrocardiography, which simultaneously showed J point ST elevation and tall T waves. However, the echocardiography showed concentric left ventricle hypertrophy and preserved left ventricular systolic function with no regional wall motion abnormalities, and coronary angiography did not show any critical coronary artery lesion. Malignant early repolarization syndrome was diagnosed, and an implantable cardioverter defibrillator was implanted. Early repolarization syndrome is associated with J point elevation, and more involved leads and an increased J point elevation amplitude can increase the risk of arrhythmogenicity. In summary, we report a case with asymptomatic type 3 early repolarization syndrome-induced idiopathic ventricular fibrillation mimicking hyper-acute ST elevation myocardial infarction.

Pericardial Fat Is Associated With the Risk of Ventricular Arrhythmia in Asian Patients.

BACKGROUND: Pericardial fat is correlated with the occurrence of atrial fibrillation or coronary atherosclerosis. However, the role of pericardial fat in ventricular arrhythmia remains unclear. METHODS AND RESULTS: Patients who had undergone dual-source computed tomography and 24-h Holter ECG were retrospectively enrolled. Quantification of the volume of pericardial fat surrounding the ventricles was analyzed using threshold attenuation of dual-source CT. The volume of pericardial fat was significantly different among those without ventricular premature beats (VPBs) in 24 h (n=28), those with occasional VPBs (n=54) and those with frequent VPBs (n=34) (12.5±6.1 cm(3)vs. 14±8.9 cm(3)vs. 29.9±17.3 cm(3), P<0.001). In addition, the number of VPBs strongly correlated with the volume of total pericardial fat (R=0.501, P<0.001), right ventricular (RV) pericardial fat (R=0.539, P<0.001), and left ventricular pericardial fat (R=0.376, P<0.001). Multivariate logistic regression analysis showed that quartiles of RV localized pericardial fat significantly increased the risk of frequent VPBs (OR=3.2, P=0.047). Moreover, the number of VPBs in 24 h was significantly different among the patients with a fat volume within the 25th percentile, 25-75th percentile and 75th percentile. CONCLUSIONS: Pericardial fat (especially RV pericardial fat) was associated with the frequency of VPBs, which suggests the arrhythmogenic potential of ventricular pericardial fat. (Circ J 2016; 80: 1726-1733).

Right Ventricle Mass Induced Coronary Artery Steal Phenomenon: A Rare Clinical Manifestation on One Leiomyosarcoma Patient.

UNLABELLED: We report a 43-year-old female with the underlying disease of retroperitoneal leiomyosarcoma and initial presentation of ST elevation myocardial infarction. Coronary angiography showed an absence of coronary artery stenosis and a huge, ill-defined cardiac mass which was fed by both the left anterior descending artery and the right coronary artery. Coronary blood flow was obviously shunted by the neovascularized cardiac tumor. Right ventricle metastatic leiomyosarcoma was diagnosed according to her clinical course, images of echocardiography and computed tomography. In conclusion, we speculated that ST-segment elevation in electrocardiogram and typical anginal symptoms can provide significant evidence for myocardial ischemia caused by coronary steal phenomenon due to a right ventricular metastatic leiomyosarcoma. KEY WORDS: Coronary steal phenomenon; Leiomyosarcoma; Myocardial infarction.