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Frontiers in Cardiovascular Medicine 2023To characterize the cardiac phenotype associated with the novel pathogenic variant (c.1526del) of gene, which we identified in a large, six-generation family.
OBJECTIVE
To characterize the cardiac phenotype associated with the novel pathogenic variant (c.1526del) of gene, which we identified in a large, six-generation family.
METHODS AND RESULTS
A family tree was constructed. The clinical data of living and deceased family members were collected. DNA samples from 7 family members were analyzed for mutations using whole-exome high-throughput sequencing technology. The clinical presentation of pathogenic variant carriers was evaluated. In this six-generation family ( = 67), one member experienced sudden death at the age of 40-years-old. Three pathogenic variant carriers were identified to possess a novel heterozygous deletion mutation in gene (HGVS: NM_170707.4, c.1526del) located at exon 9 of chr1:156137145, which creates a premature translational stop signal (p.Pro509Leufs*39) in the LMNA gene and results in an mutant lamin A protein product. The main symptoms of the pathogenic variant carriers were palpitation, fatigue, and syncope, which typically occurred around 20-years-old. AV-conduction block and non-sustained ventricular tachycardia were the first signs of disease and would rapidly progress to atrial standstill around 30-years-old. Significant right atrial enlargement and bicuspid aortic valve malformation was also commonly seen in patients who carried this pathogenic variant.
CONCLUSION
The pathogenic variant of c.1526del p.P509Lfs*39 was a frameshift deletion located at exon 9 of chr1:156137145 and causes severe right atrial enlargement, sick sinus syndrome, atrial standstill, ventricular tachycardia, and bicuspid aortic valve malformation. Our findings expand the phenotypic spectrum of novel gene mutations.
PubMed: 37465451
DOI: 10.3389/fcvm.2023.1109008 -
SAGE Open Medical Case Reports 2023The case report shares evidence for a better understanding of atrial standstill. This being a rare arrhythmogenic condition. This is a 46-year-old woman presented with...
The case report shares evidence for a better understanding of atrial standstill. This being a rare arrhythmogenic condition. This is a 46-year-old woman presented with multiple sites of arterial embolism, including lower extremity arteries, coronary artery, and cerebral artery. Unexpectedly, multiple arterial embolization in the patient was due to atrial standstill by transthoracic echocardiography and cardiac electrophysiological study. An additional family investigation revealed that the patient's brother and sister also suffered from this disease. In search of further understanding the case, we carried out the genetic testing of the family and a frame shift double-G insertion mutation at c.1567 in the gene was found in all the three individuals. The patient recovered well after anticoagulation therapy and left bundle branch area pacing. This report remarks on the importance of multiple sites of arterial embolism which should be wary of family atrial standstill.
PubMed: 37425136
DOI: 10.1177/2050313X231179810 -
HeartRhythm Case Reports May 2023
PubMed: 37324960
DOI: 10.1016/j.hrcr.2023.02.009 -
CEN Case Reports Nov 2023Amyloid light chain (AL) amyloidosis is a rare hematologic disease that may involve multiple organs. Amongst the organs, cardiac involvement causes the greatest concern...
Cardiac and renal AL amyloidosis controlled by autologous stem cell transplantation for 17 years accompanying late onset atrial fibrillation and complete atrioventricular block.
Amyloid light chain (AL) amyloidosis is a rare hematologic disease that may involve multiple organs. Amongst the organs, cardiac involvement causes the greatest concern as its treatment is challenging. Diastolic dysfunction rapidly progresses to decompensated heart failure, pulseless electrical activity, and atrial standstill due to electro-mechanical dissociation resulting in death. High-dose melphalan plus autologous stem cell transplantation (HDM-ASCT) is the most radical treatment but its risk is very high and thus only less than 20% of patients can receive this therapy under criteria that can suppress treatment-related mortality. In substantial proportion of patients, levels of M protein remain elevated, and organ response cannot be achieved. Moreover, relapse may occur, making prediction of treatment response and judgement of disease eradication very difficult. Herein we report a case of AL amyloidosis who was treated with HDM-ASCT, resulting in preserved cardiac function and resolution of proteinuria for more than 17 years after HDM-ASCT ensuing atrial fibrillation and complete atrioventricular block required management by catheter ablation and pacemaker implantation 10 years and 12 years after transplantation, respectively.
Topics: Humans; Amyloidosis; Atrial Fibrillation; Atrioventricular Block; Hematopoietic Stem Cell Transplantation; Immunoglobulin Light-chain Amyloidosis; Melphalan; Neoplasm Recurrence, Local; Transplantation, Autologous
PubMed: 36795309
DOI: 10.1007/s13730-023-00777-8 -
Zhonghua Er Ke Za Zhi = Chinese Journal... Feb 2023To analyze the clinical characteristics and risk factors of malignant vasovagal syncope (VVS) in children. This was a case-control study. The data of 368 VVS patients...
To analyze the clinical characteristics and risk factors of malignant vasovagal syncope (VVS) in children. This was a case-control study. The data of 368 VVS patients who were treated in the Department of Cardiology, Children's Hospital, Capital Institute of Pediatrics from June 2017 to December 2021 was collected and analyzed. They were divided into malignant VVS group and non-malignant VVS group according to the presence of sinus arrest, and then their demographic characteristics were compared. The children with malignant VVS and complete clinical information were recruited into the case group and were matched by age and sex (1∶4 ratio) with non-malignant VVS patients during the same period.Their clinical characteristics and lab tests were compared. Independent sample test, Mann Whitney or χ test was used for comparison between groups.Logistic regression was used to analyze the risk factors for malignant VVS in children. Eleven malignant VVS and 342 non-malignant VVS met the inclusion and exclusion critera. Eleven malignant VVS and 44 non-malignant children were recruited in the case-control study. Ten patients of the 11 malignant VVS had a cardiac arrest occurring at 35 (28, 35) minutes of the head-up tilt test, and the duration of sinus arrest was (9±5) s. One patient had syncope occurring while waiting for drawing blood, and the duration of sinus arrest was 3.4 s. The children with malignant vasovagal syncope were younger than non-malignant VVS patients (9 (7, 10) 12 (10, 14) years old, <0.05), and had higher mean corpuscular hemoglobin concentration (MCHC) and standard deviation of the mean cardiac cycle over 5-minute period within 24 hours ((347±9) (340±8) g/L, (124±9) (113±28) ms, both <0.05). Logistic regression analysis showed that MCHC was an independent risk factor for malignant VVS in pediatric patients (=1.13, 95% 1.02-1.26, =0.024). The onset age of malignant VVS was younger, with no other special clinical manifestations. MCHC was an independent risk factor for malignant VVS.
Topics: Humans; Child; Adolescent; Syncope, Vasovagal; Case-Control Studies; Syncope; Risk Factors
PubMed: 36720594
DOI: 10.3760/cma.j.cn112140-20221217-01052 -
JACC. Clinical Electrophysiology Jan 2023
Topics: Humans; Child; Cardiomyopathies; Heart Atria; Heart Block
PubMed: 36697202
DOI: 10.1016/j.jacep.2022.11.025 -
Journal of Interventional Cardiac... Oct 2023A compressible lattice-tip catheter designed for focal ablation using radiofrequency or pulsed-field energies has been recently described. The objective of this study is... (Review)
Review
BACKGROUND
A compressible lattice-tip catheter designed for focal ablation using radiofrequency or pulsed-field energies has been recently described. The objective of this study is to describe a new lattice catheter designed for single-shot pulmonary vein isolation (PVI).
METHODS
This 8F catheter consists of a compressible lattice tip that is delivered over the wire and is expandable up to 34 mm (SpherePVI™, Affera Inc.). Pulsed field ablation (PFA) was applied from 6 elements using a biphasic waveform of microsecond scale (± 1.3-2.0 kV, 5 s per application). In 12 swine, the superior vena cava (SVC) and right superior pulmonary vein (RSPV) were targeted for isolation. Animals were survived for 12-24 h (n = 6) or 3 weeks (n = 6) for evaluation of short and long-term safety and efficacy parameters. PVI was evaluated immediately after ablation and at the terminal procedure. Ablation-related microbubbles were examined using intracardiac echocardiography and phrenic nerve function by pacing. The tissue was examined by histopathology.
RESULTS
In all 12 animals, PFA resulted in successful acute isolation of the SVC and RSPV using 2.8 ± 1.1 and 3.2 ± 1.2 applications per vein, respectively. After a survival period of 23 ± 5.9 days, all targeted veins remained isolated, and the level of isolation persisted without significant regression or expansion. In one animal, SVC isolation at the level of the right atrial appendage resulted in sinus node arrest. PFA did not affect phrenic nerve function, and it was associated with a few isolated bubbles formation.
CONCLUSIONS
In this pre-clinical study, a new expandable lattice catheter designed for single-shot PVI was able to achieve rapid and durable isolation.
Topics: Swine; Animals; Atrial Fibrillation; Pulmonary Veins; Catheter Ablation; Vena Cava, Superior; Catheters; Treatment Outcome
PubMed: 36441424
DOI: 10.1007/s10840-022-01414-7 -
JACC. Clinical Electrophysiology Jan 2023Atrial standstill (AS) is a rare condition characterized by absence of electrical activity within the atria. Studies to date have been limited.
BACKGROUND
Atrial standstill (AS) is a rare condition characterized by absence of electrical activity within the atria. Studies to date have been limited.
OBJECTIVES
The authors sought to describe the clinical characteristics, genetics, and outcomes of patients with AS.
METHODS
This was a retrospective multicenter study of patients <18 years at AS diagnosis, defined as absence of atrial activity documented during an electrophysiology study, device placement, or noninvasive rhythm tracings and confirmed by echocardiogram. Patients with acquired disorders were excluded. Clinical details and genetic variants were recorded and analyzed.
RESULTS
Twenty patients were diagnosed at a median age of 6.6 years (IQR: 2.9-10.8 years). Arrhythmias included 16 (80%) with atrial/supraventricular arrhythmias and 8 (40%) with ventricular tachycardia, including 4 with cardiac arrests. A type 1 Brugada pattern was documented in 4. Pacemakers were implanted in 18 (90%). Although atrial leads were attempted in 15, only 4 achieved pacing at implantation. During a median follow-up of 6.9 years (IQR: 1.2-13.3 years), 7 (35%) had thromboembolic events. Of these, none had atrial pacing, 6 were not on anticoagulation, and 1 was on aspirin. Genetic testing identified SCN5A variants in 13 patients (65%). Analyses suggest SCN5A loss-of-function may be one mechanism driving AS. Ventricular arrhythmias and cardiac arrest were more commonly seen in patients with biallelic SCN5A variants.
CONCLUSIONS
AS may be associated with loss-of-function SCN5A variants. Patients demonstrate atrial and ventricular arrhythmias, and may present challenges during device placement. Patients without the capacity for atrial pacing are at risk for thromboembolic events and warrant anticoagulation.
Topics: Humans; Child; Child, Preschool; Atrial Fibrillation; Heart Atria; Heart Block; Heart Arrest; Anticoagulants
PubMed: 36435694
DOI: 10.1016/j.jacep.2022.08.022 -
JFMS Open Reports 2022In this report, we provide detailed clinical, laboratory, electrocardiographic and echocardiographic descriptions of two -positive cats diagnosed with transient...
CASE SERIES SUMMARY
In this report, we provide detailed clinical, laboratory, electrocardiographic and echocardiographic descriptions of two -positive cats diagnosed with transient myocardial thickening (TMT) and acute myocardial injury (MI). In both cases, aetiological diagnosis was based on the antibody screening test (all cats had IgM titres ⩾1:64) and MI was demonstrated by a concomitant severe increase of the serum concentration of cardiac troponin I (5.1-23.6 ng/ml; upper hospital limit <0.2 ng/ml). In both cats, TMT and MI were aggravated by left atrial dilation and dysfunction, as well as congestive heart failure. In one cat, atrial standstill was also documented, while the other cat showed an intracardiac thrombus. Both cats underwent an extensive diagnostic work-up aimed at excluding additional comorbidities that could contribute to able to contribute to TMT and MI, and received appropriate antiprotozoal (ie, clindamycin) and cardiovascular therapy (eg, furosemide, pimobendan and clopidogrel). This was followed by a simultaneous decline in serology titres, normalisation of troponin level and the resolution of clinical, electrocardiographic, radiographic and echocardiographic abnormalities. In the light of these results, therapies were interrupted and subsequent controls ruled out any disease relapse.
RELEVANCE AND NOVEL INFORMATION
Although represents an often-cited cause of myocarditis in feline medicine, the existing literature on the demonstration of -associated cardiac compromise in cats is extremely limited. Accordingly, this report provides a useful contribution to pertinent scientific literature since it describes TMT and acute MI in two -positive cats.
PubMed: 36339325
DOI: 10.1177/20551169221131266 -
Equine Veterinary Journal Sep 2023Cardiac arrhythmias have not been previously reported in horses while swimming.
BACKGROUND
Cardiac arrhythmias have not been previously reported in horses while swimming.
OBJECTIVES
To describe the type and frequency of encountered arrhythmias during repetitive swimming cycles.
STUDY DESIGN
Descriptive observational study.
METHODS
Sixteen horses swam five pool lengths (75 m), each separated by an active recovery walk. Continuous electrocardiograms (ECGs) were recorded (n = 80) and analysed during the pre-swim, swim and active-recovery periods. Arrhythmias were categorised as sinus arrhythmia (SA), sinus block, sinus pause (compensatory and non-compensatory), second degree atrioventricular block (2AVB) for physiological arrhythmias, supraventricular premature depolarisation (SVPD) and ventricular premature depolarisation (VPD) for non-physiological arrhythmias. A linear mixed-effects model was used to examine the effects of repetitive swim lengths on arrhythmias and swimming parameters. Data were reported as median [interquartile range].
RESULTS
Fifteen horses (94%) experienced at least one arrhythmia; however, the frequency remained low and 2AVB were only observed during the pre-swim period. The swimming heart rate (HR) was 162 bpm [141;173]. Sinus blocks, sinus pauses, SA, SVPD and VPD were all recorded at least once during swimming. Except for one VPD couplet, all premature depolarisations were isolated. During active-recovery, the HR was 105 bpm [103;106], with SA observed in 13 horses (81%), isolated SVPD in six horses (38%), sinus pause in one horse (6%) but no VPD present.
MAIN LIMITATIONS
Limited number of horses precluding population prevalence assessment.
CONCLUSION AND CLINICAL IMPORTANCE
High-quality underwater ECGs were acquired in swimming horses for the first time. The frequency of arrhythmias remained low and rare pathological arrhythmias were observed during repetitive swimming and active-recovery cycles. Swimming with active-recovery periods is not a high-risk cardio-arrhythmic exercise.
Topics: Horses; Animals; Swimming; Arrhythmias, Cardiac; Electrocardiography; Heart Block; Horse Diseases
PubMed: 36273248
DOI: 10.1111/evj.13895