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Cardiac and cardiovascular disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is triggered in those susceptible, as might be expected, by exercise or stress. This is mostly autosomal dominant (especially RYR2) but a recessive form exists.
Recognition of common arrhythmias
Published in John Edward Boland, David W. M. Muller, Interventional Cardiology and Cardiac Catheterisation, 2019
Nicholas P. Kerr, Rajesh N. Subbiah
In polymorphic VT, the QRS morphology varies from beat to beat. It is seen in association with several cardiac ion channelopathies, including long QT syndrome, catecholaminergic polymorphic VT (CPVT) and Brugada syndrome, but may also occur in acute ischaemia and cardiomyopathy (Figure 20.3b). When polymorphic VT occurs in the setting of long QT syndrome it is called torsades de pointes, with the onset of VT following a characteristic long-short sequence of RR intervals. Torsades de pointes may occur with either congenital or acquired QT prolongation (Table 20.4). The risk is proportional to the degree of QT prolongation with a substantially increased risk once the QT interval is prolonged to greater than 500 ms. Acute treatment includes correction of reversible causes of QT prolongation and may require shortening the QT interval by increasing heart rate with isoprenaline or temporary pacing.
Implantable cardioverter defibrillators
Published in Ever D. Grech, Practical Interventional Cardiology, 2017
Dominic Rogers, Abdallah Al-Mohammad
This is a group of inheritable electrical abnormalities that could lead to potentially lethal arrhythmias that occur in otherwise structurally normal hearts. They are labelled as cardiac channelopathies and include the congenital long QT syndromes, Brugada syndrome and catecholaminergic polymorphic VT (CPVT) and related disorders. These are thought to be responsible for a third of the cases of negative autopsy sudden unexplained deaths in the young.13
3D bioprinting for organ and organoid models and disease modeling
Published in Expert Opinion on Drug Discovery, 2023
Amanda C. Juraski, Sonali Sharma, Sydney Sparanese, Victor A. da Silva, Julie Wong, Zachary Laksman, Ryan Flannigan, Leili Rohani, Stephanie M. Willerth
A gold-standard read-out for functional assessment of 3D printed cardiac tissues following their response to drugs is high-speed high-resolution optical mapping [89]. Optical mapping is a widely used noninvasive assessment tool to visualize action potential and its wave propagation to study cardiac electrophysiology. Voltage-sensitive dyes (e.g. Di-4-ANEPPS) or Ca2+ sensitive dyes (e.g. X-Rhod, Fluo-4) are used to monitor transmembrane potential changes or Ca2+ transient propagation, respectively [90,91]. Measuring transient Ca2+ provides quantitative information about Ca2+ handling properties of the cardiac tissue, such as conduction velocity and signal intensity, which helps investigate the clinical phenotype of inherited heart diseases in vitro [7]. For example, it can be used to recapitulate hallmark features of catecholaminergic polymorphic ventricular tachycardia by showing ectopic Ca2+ propagation from patient-derived cardiac tissues with rapid electrical pacing or adrenergic stimulation [92].
Factors associated with disability and pain intensity in patients with complex regional pain syndrome
Published in Disability and Rehabilitation, 2022
Maryam Farzad, Joy C. MacDermid, Tara Packham, Behzad Khodabandeh, Mohsen Vahedi, Erfan Shafiee
People with CRPS experience significant disability and continuing pain disproportionate to any inciting event [4]. Persistent pain and disability interfere with daily living activities, sleep, and work, occupation, participation, and quality of life for persons with CRPS [5–7]. Patients with CRPS also avoid stimuli that may trigger their pain or allodynia, leading to conditional disuse of the affected hand [8,9]. This learned disuse impairs the natural pumping action associated with the movement that helps prevent the accumulation of catecholamines and tachykinins in the affected extremity, which can exacerbate CRPS signs and symptoms. It is believed that increased catecholaminergic activity is associated with psychological factors including distress (e.g., anxiety, anger, and depression) which could interact with the pathophysiologic mechanisms above [10,11].
Perioperative pharmacotherapy to prevent cardiac complications in patients undergoing noncardiac surgery
Published in Expert Opinion on Pharmacotherapy, 2021
Kirtipal Bhatia, Bharat Narasimhan, Gaurav Aggarwal, Adrija Hajra, Soumya Itagi, Shathish Kumar, Sandipan Chakraborty, Neelkumar Patel, Vardhmaan Jain, Dhrubajyoti Bandyopadhyay, Birendra Amgai, Wilbert S Aronow
Tremendous advances in cardiovascular medicine have left us with a large and growing elderly demographic with a significant comorbidity burden. Similar strides in surgical and anesthetic techniques have led to increasingly complicated and intricate surgeries on patients previously deemed too high risk for such undertakings. The logical consequence of the aforementioned progress is that a greater number of patients with cardiovascular comorbidities are undergoing high-risk surgeries than ever before. The impact of these interventions – either as a result of anesthesia, the surgery itself, or the physiological consequences of a catecholaminergic state – imposes varying degrees of stress on the cardiovascular system. These are often well tolerated by healthy individuals but are of particular significance in high-risk patients with an impaired cardiac reserve. The importance of perioperative care is of vital importance in these patients.