Myotonia

We present a group of 12 patients (7 boys and 5 girls) aged 6 to 22 years. The age of detection ranged from 2 to 8 years, and patients complaint on syncope - 4 patients (33%), cleft palate - 3 patients (25%), periodic paralysis - 2 patients (16,7%), polymorphic ventricular arrhythmia - 3 patients (25%).
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research

Related Links:

We describe the case of a 43-year-old patient who presented with a transient ischemic attack episode, desaturation and ventricular arrhythmias. Transesophageal echocardiography diagnosed a PFO, whilst magnetic resonance imaging revealed two small myocardial infarcts, despite normal coronaries on subsequent angiography. Echocardiography and cardiac CT revealed a LACV with bidirectional flow. The patient underwent percutaneous LACV and PFO closure, with immediate saturation increase following occlusion of the LACV. To the best of our knowledge, this is the first time a LACV is identified as the cause of recurrent thromboembolic events.
Source: Canadian Journal of Cardiology - Category: Cardiology Source Type: research
Authors: Kuck KH, Phan HL, Tilz RR Abstract The new guidelines for the management of supraventricular tachycardia (SVT) were published by the European Society of Cardiology (ESC) in September 2019. The key message of the guidelines is that catheter ablation should be offered as a first line treatment to most patients during a comprehensive discussion of the risks and advantages. This recommendation recognizes that catheter ablation has nowadays become a widely established, effective and safe treatment method with a very low complication rate, which has revolutionized the treatment of SVT due to the substa...
Source: Herz - Category: Cardiology Tags: Herz Source Type: research
Publication date: Available online 15 November 2019Source: Biochimica et Biophysica Acta (BBA) - BiomembranesAuthor(s): Jonathan M. Beard, Penny E. Shockett, John P. O'ReillyAbstractSlow inactivation in voltage-gated Na+ channels (Navs) plays an important physiological role in excitable tissues (muscle, heart, nerves) and mutations that disrupt Nav slow inactivation can result in pathophysiologies (myotonia, arrhythmias, epilepsy). While the molecular mechanisms responsible for slow inactivation remain elusive, previous studies have suggested a role for the pore-lining D1-S6 helix. The goals of this research were to determ...
Source: Biochimica et Biophysica Acta (BBA) Biomembranes - Category: Biochemistry Source Type: research
Conclusions The study shows high fatality caused by cardiovascular diseases and drug intoxication among schizophrenia patients, which calls attention of the medical community to closely monitor the high risk factors of sudden death among schizophrenia patients.
Source: The American Journal of Forensic Medicine and Pathology - Category: Forensic Medicine Tags: Original Articles Source Type: research
Publication date: Available online 14 November 2019Source: Life SciencesAuthor(s): Panagiotis Lekkas, Marianthi Kontonika, Evgenia S. Georgiou, Vassileios La Rocca, Eleni-Taxiarchia Mouchtouri, Iordanis Mourouzis, Constantinos Pantos, Theofilos M. KolettisAbstractAimsEndothelin has been implicated in various processes in the brain, including the modulation of sympathetic responses. The present study examined the pathophysiologic role of brain endothelin-receptors in the setting of acute myocardial infarction, characterized by high incidence of ventricular tachyarrhythmias.Main methodsWe investigated the effects of intracer...
Source: Life Sciences - Category: Biology Source Type: research
We report a rare case of overlap syndrome (SSc and polymyositis) who presented with sudden chest pain secondary to myocardial fibrosis. Although the etiology of chest symptoms in collagen disease was difficult to identify, cardiac magnetic resonance imaging (MRI) revealed not myocarditis but myocardial fibrosis in our case. Synthetic judgement of serum brain natriuretic peptide/ troponin T levels and cardiac MRI is useful in the search for the cause of chest symptoms even in patients with collagen diseases. PMID: 31723102 [PubMed - in process]
Source: Drug Discoveries and Therapeutics - Category: Drugs & Pharmacology Tags: Drug Discov Ther Source Type: research
Authors: Mazkereth R, Maayan-Metzger A, Leibovitch L, Schushan-Eisen I, Morag I, Straus T Abstract BACKGROUND: The need for postnatal monitoring of infants exposed to intrauterine beta blockers (BBs) has not been clearly defined. OBJECTIVES: To evaluate infants exposed to intrauterine BBs in order to estimate the need for postnatal monitoring. METHODS: This retrospective case-control study comprised 153 term infants born to mothers who had been treated with BBs during pregnancy. Treatment indications included hypertension 76 mothers (49.7%), cardiac arrhythmias 48 (31.4%), rheumatic heart disease 14 (9.1%),...
Source: The Israel Medical Association Journal - Category: General Medicine Tags: Isr Med Assoc J Source Type: research
Authors: Schlesinger A, Weiss A, Nenaydenko O, Koren-Morag N, Adunsky A, Beloosesky Y Abstract BACKGROUND: Statins and selective serotonin reuptake inhibitors (SSRIs) have beneficial effects on health outcomes in the general population. Their effect on survival in debilitated nursing home residents is unknown. OBJECTIVES: To assess the relationships between statins, SSRIs, and survival of nursing home residents. METHODS: Baseline patient characteristics, including chronic medications, were recorded. The association of 5-year survival with different variables was analyzed. A sub-group analysis of survival wa...
Source: The Israel Medical Association Journal - Category: General Medicine Tags: Isr Med Assoc J Source Type: research
Atrial fibrillation (AF) is the most common arrhythmia and poses a substantial economic burden due to associated thromboembolic complications. Screening for AF may theoretically be effective, but there is no consensus regarding the optimal screening method because the available tools are either invasive or not cost-effective. Recently, smartwatch industry has received a surge of interest for this purpose by introducing technologies such as photoplethysmography, artificial intelligence, and actual electrodes taking an electrocardiogram to measure and analyze heart rate and rhythm with relatively acceptable accuracy. Combine...
Source: Critical Pathways in Cardiology - Category: Cardiology Tags: Review Article Source Type: research
We describe 2 different novel de novo missenseACTBmutations, c.208C>G (p.Pro70Ala) and c.511C>T (p.Leu171Phe), found by trio exome sequencing analysis of 2 unrelated patients: an 8-year-old boy with a suspected BRWS and a 4-year-old girl with unclear developmental disorder. The mutated residue in the first case is situated in the actin H-loop, which is involved in actin polymerization. The mutated residue in the second case (p.Leu171Phe) is found at the actin barbed end in the W-loop, important for binding to profilin and other actin-binding molecules. While the boy presented with a typical BRWS facial appearance, th...
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research
More News: Arrhythmia | Boys | Brain | Cleft Palate | Girls | Neurology | Pathology | Ventricular Arrhythmia