-
European Heart Journal. Case Reports Jun 2023Juvenile onset of extensive atrial electromechanical failure, including atrial standstill, is a rare disease entity that may precede ventricular cardiomyopathy. Genetic...
Juvenile-onset multifocal atrial arrhythmias, atrial standstill and compound heterozygosity of genetic variants in : sentinel event for evolving dilated cardiomyopathy-a case report.
BACKGROUND
Juvenile onset of extensive atrial electromechanical failure, including atrial standstill, is a rare disease entity that may precede ventricular cardiomyopathy. Genetic variants associated with early-onset atrioventricular (AV) cardiomyopathy are increasingly recognized.
CASE SUMMARY
A 16-year-old patient presented with atrial brady- and tachyarrhythmias and concomitant impaired atrial electromechanical function (atrial standstill). The atrial phenotype preceded the development of a predominantly right-sided AV dilated cardiomyopathy with pronounced myocardial fibrosis. A His-bundle pacemaker was installed for high-degree AV conduction block and sinus arrest. Using familial-based whole-exome sequencing, a missense mutation and a copy number variant deletion (compound heterozygosity) of the gene (involved in ribosomal RNA synthesis) were identified.
DISCUSSION
Juvenile onset of severe atrial electromechanical failure with atrial arrhythmias should prompt deep pheno- and genotyping and calls for vigilance for downstream cardiomyopathic deterioration.
PubMed: 37501913
DOI: 10.1093/ehjcr/ytad255 -
The Journal of Innovations in Cardiac... Jan 2024
PubMed: 38304085
DOI: 10.19102/icrm.2024.15016 -
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 -
Anales de Pediatria Dec 2023
Topics: Humans; Cardiomyopathies; Heart Block; Heart Atria; Muscular Dystrophies
PubMed: 37949737
DOI: 10.1016/j.anpede.2023.11.001 -
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 -
Frontiers in Cardiovascular Medicine 2023A pregnant patient had symptomatic atrial standstill and indications for pacing therapy with an expected high ventricular pacing ratio. With the consideration of...
A pregnant patient had symptomatic atrial standstill and indications for pacing therapy with an expected high ventricular pacing ratio. With the consideration of potential pacing-induced cardiomyopathy in the future we conducted zero-fluoro left bundle branch pacing (zLBBP) implantation for heart failure prevention. An ex vivo 3D cardiac model (Medtronic, USA) was used preoperatively to simulate the zLBBP implantation to improve procedure safety and efficiency. Intraoperatively, the simulation steps were followed, and a combination of electroanatomic navigation systems (EANS) and intracardiac echocariography (ICE) were used to ensure that the procedure was performed efficiently and safely.
PubMed: 38130689
DOI: 10.3389/fcvm.2023.1325442 -
BMC Oral Health Sep 2023Intraoperative sinus arrest is rarely seen during zygomatic fracture treatment. The patient was diagnosed with sick sinus syndrome based on repeated postoperative sinus...
BACKGROUND
Intraoperative sinus arrest is rarely seen during zygomatic fracture treatment. The patient was diagnosed with sick sinus syndrome based on repeated postoperative sinus arrest, which could have resulted in death if diagnosed late, making this case very significant to report.
CASE PRESENTATION
Sick sinus syndrome is an arrhythmia associated with reduced automaticity of the sinoatrial node or impaired sinoatrial node conduction. We report the case of a 67-year-old man diagnosed with the syndrome after a sinus arrest that occurred during a zygomatic fracture treatment. The patient had cheek pain and mouth opening disorder, dizziness after fainting and sustaining a facial injury. Preoperative examination determined that the syncope was due to drug-induced arrhythmia, and surgery was authorized after drug withdrawal. During the operation, sinus arrest was observed due to trigeminal vagal reflex, and heart rate was restarted by stopping the operation and chest compressions. After the surgery, the patient showed symptoms of dizziness and palpitations, and sinus arrest following atrial fibrillation and supraventricular tachycardia, which was diagnosed as sick sinus syndrome, and a pacemaker was implanted. Currently, 8 years have passed since the surgery, and there are no symptoms of mouth opening disorder, dizziness, or palpitations.
CONCLUSIONS
In the case of maxillofacial injuries due to syncope, cardiogenic syncope is a possibility, and repeated syncope is a risk for death due to delayed diagnosis. There are no reports of maxillofacial trauma leading to a diagnosis of sick sinus syndrome. The purpose of this case report is to disseminate the importance of diagnosing the cause of syncope as well as injury treatment.
Topics: Male; Humans; Aged; Zygomatic Fractures; Sick Sinus Syndrome; Dizziness; Syncope; Atrial Fibrillation
PubMed: 37726766
DOI: 10.1186/s12903-023-03413-0 -
Medicine Feb 2024Previous studies have found that the main treatment of sinus arrest is pacemaker treatment. It is rare to have 12 s of sinus arrest after radiofrequency ablation, and...
RATIONALE
Previous studies have found that the main treatment of sinus arrest is pacemaker treatment. It is rare to have 12 s of sinus arrest after radiofrequency ablation, and whether a permanent pacemaker is implanted immediately in this case is not described in the guidelines.
PATIENT CONCERNS
A 76-year-old male patient with persistent atrial fibrillation (AF) developed sinus arrest lasting 12 s in the early morning of the fourth day after using radiofrequency ablation for pulmonary vein isolation.
DIAGNOSIS
The patient was diagnosed with AF and sinus arrest.
INTERVENTIONS
The patient received cardiopulmonary resuscitation, intravenous injection of atropine 1 mg, and intravenous infusion of isoproterenol 1mg and immediately recovered consciousness thereafter. Approximately, 1.5 h later, the patient underwent surgery to install a temporary pacemaker in the right femoral vein.
OUTCOMES
The patient had repeated episodes of sinus arrest after the implantation of a temporary pacemaker. After 3 weeks, the patient stabilized and was discharged. The patient was followed up for 1 year and did not experience any recurrence of sinus arrest or AF.
LESSONS
We consider the potential for postoperative myocardial edema, injury to the sinoatrial node during the procedure, propafenone poisoning, and autonomic dysfunction as contributors to the occurrence of sinus arrest after radiofrequency ablation. When sinus arrest occurs after radiofrequency ablation, we can choose the appropriate treatment according to the patient's condition.
Topics: Male; Humans; Aged; Treatment Outcome; Catheter Ablation; Atrial Fibrillation; Radiofrequency Ablation; Heart Arrest; Heart Atria; Heart Block; Cardiomyopathies; Genetic Diseases, Inborn
PubMed: 38394505
DOI: 10.1097/MD.0000000000037191