Search Results (3)

Background: PRKAG2 cardiac syndrome is a rare autosomal dominant glycogen-storage cardiomyopathy that mimics sarcomeric hypertrophic cardiomyopathy (HCM) but features ventricular pre-excitation, progressive conduction disease and concentric hypertrophy due to intracellular glycogen accumulation. The c.905G>A (p.Arg302Gln) variant is one of the most frequently reported pathogenic substitutions. Case summary: We describe a three-generation family carrying the heterozygous PRKAG2 p.Arg302Gln variant. The proband, a 41-year-old man, presented with paroxysmal atrial fibrillation, short PR interval and abnormal intraventricular conduction associated with concentric left ventricular hypertrophy and preserved ejection fraction. Holter monitoring disclosed episodes of high-grade atrioventricular block, prompting implantation of a primary-prevention dual-chamber ICD. Two gene-positive brothers exhibited milder hypertrophy but shared sinus bradycardia, ventricular pre-excitation and supraventricular arrhythmias; one underwent catheter ablation of a posteroseptal accessory pathway. The affected mother displayed a hypertrophic phenotype complicated by sick sinus syndrome and permanent atypical atrial flutter requiring pacemaker implantation. No relevant extracardiac involvement was detected in any family member. Review and novelty: Using this family as a starting point, we provide a concise narrative review of PRKAG2 syndrome with emphasis on the Arg302Gln genotype, molecular mechanisms and emerging treatment strategies. We highlight key multimodality imaging and tissue-characterization features that help distinguish diffuse, concentric glycogen-storage hypertrophy from the often-asymmetric pattern of sarcomeric HCM. Integration of our findings with published Arg302Gln cohorts illustrates the broad phenotypic variability in conduction disease, pre-excitation and atrial arrhythmias. Conclusions: PRKAG2 p.Arg302Gln-related cardiomyopathy should be suspected in patients with otherwise unexplained left ventricular hypertrophy associated with short PR interval, pre-excitation or early brady–tachy arrhythmias. Early recognition of red-flag features, systematic genetic testing, family screening and tailored arrhythmia/device management are crucial, while emerging gene- and pathway-targeted therapies may offer future disease-modifying potential. Full article

This paper reviews recent biomechanical studies on heart valve flutter. The function of the heart valves is essential for maintaining effective blood circulation. Heart valve flutter is a kind of small vibration phenomenon like a flag fluttering in the wind, which is related to many factors such as a thrombus, valve calcification, regurgitation, and hemolysis and material fatigue. This vibration phenomenon is particularly prevalent in valve replacement patients. The biomechanical implications of flutter are profound and can lead to micro-trauma of valve tissue, accelerating its degeneration process and increasing the risk of thrombosis. We conducted a systematic review along with a critical appraisal of published studies on heart valve flutter. In this review, we summarize and analyze the existing literature; discuss the detection methods of frequency and amplitude of heart valve flutter, and its potential effects on valve function, such as thrombosis and valve degeneration; and discuss some possible ways to avoid flutter. These findings are important for optimizing valve design, diagnosing diseases, and developing treatment strategies. Full article

In the last few decades, piezoelectric (PZT) materials have played a vital role in the aerospace industry because of their energy harvesting capability. PZT energy harvesters (PEH) absorb the energy from an operational environment and can transform it into useful energy to drive nano/micro-electronic components. In this research work, a PEH based on the flag-flutter mechanism is presented. This mechanism is based on fluid-structure interaction (FSI). The flag is subjected to the axial airflow in the subsonic wind tunnel. The performance evaluation of the harvester and aeroelastic analysis is investigated numerically and experimentally. A novel solution is presented to extract energy from Limit Cycle Oscillations (LCOs) phenomenon by means of PZT transduction. The PZT patch absorbs the flow-induced structural vibrations and transforms it into electrical energy. Furthermore, the optimal resistance and length of the flag is predicted to maximize the energy harvesting. Different configurations of flag i.e., with Aluminium (Al) patch and PZT patch for flutter mode vibration mode are studied numerically and experimentally. The bifurcation diagram is constructed for the experimental campaign for the flutter instability of a cantilevered flag in subsonic wind-tunnel. Moreover, the flutter boundary conditions are analysed for reduced critical velocity and frequency. The designed PZT energy harvester via flag-flutter mechanism is suitable for energy harvesting in aerospace engineering applications to drive wireless sensors. The maximum output power that can be generated from the designed harvester is 6.72 mW and the optimal resistance is predicted to be 0.33 M$\Omega$. Full article