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Journal of Veterinary Cardiology : the... Jun 2017Persistent atrial standstill is a rare arrhythmia in both human and veterinary patients. In recent decades, cases of partial atrial standstill have been recognized in...
Persistent atrial standstill is a rare arrhythmia in both human and veterinary patients. In recent decades, cases of partial atrial standstill have been recognized in humans. We describe a case of presumptive partial atrial standstill in a Greyhound, in which there was disparate left and right atrial electromechanical function and rapid progression to congestive heart failure over the span of fourteen weeks. An atrial cardiomyopathy characterized by severe, diffuse, fibrofatty replacement of the atrial myocardium was identified histologically.
Topics: Animals; Arrhythmias, Cardiac; Cardiomyopathies; Dog Diseases; Dogs; Electrocardiography; Fatal Outcome; Female; Genetic Diseases, Inborn; Heart Atria; Heart Block
PubMed: 28314614
DOI: 10.1016/j.jvc.2017.01.003 -
Orphanet Journal of Rare Diseases May 2022Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is associated with ventricular arrhythmia, heart failure (HF), and sudden death. Thromboembolism is...
Rare and potential pathogenic mutations of LMNA and LAMA4 associated with familial arrhythmogenic right ventricular cardiomyopathy/dysplasia with right ventricular heart failure, cerebral thromboembolism and hereditary electrocardiogram abnormality.
BACKGROUND
Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is associated with ventricular arrhythmia, heart failure (HF), and sudden death. Thromboembolism is also an important and serious complication of ARVC/D. However, the etiology of ARVC/D and thromboembolism and their association with genetic mutations are unclear.
METHODS
Genomic DNA samples of peripheral blood were conducted for whole-exome sequencing (WES) and Sanger sequencing in the ARVC/D family. Then, we performed bioinformatics analysis for genes susceptible to cardiomyopathies and arrhythmias. Further, we analyzed how the potential pathogenic mutations were affecting the hydrophobicity and phosphorylation of amino acids and their joint pathogenicity by ProtScale, NetPhos and ORVAL algorisms.
RESULTS
We discovered a Chinese Han family of ARVC/D with right ventricular HF (RVHF), cerebral thromboembolism, arrhythmias (atrial fibrillation, atrial standstill, multifocal ventricular premature, complete right bundle block and third-degree atrioventricular block) and sudden death. Based on the WES data, the variants of LMNA p.A242V, LAMA4 p.A225P and RYR2 p.T858M are highly conserved and predicated as "deleterious" by SIFT and MetaSVM algorithms. Their CADD predicting scores are 33, 27.4 and 25.8, respectively. These variants increase the hydrophobicity of their corresponding amino acid residues and their nearby sequences by 0.378, 0.266 and 0.289, respectively. The LAMA4 and RYR2 variants lead to changes in protein phosphorylation at or near their corresponding amino acid sites. There were high risks of joint pathogenicity for cardiomyopathy among these three variants. Cosegregation analysis indicated that LMNA p.A242V might be an important risk factor for ARVC/D, electrocardiogram abnormality and cerebral thromboembolism, while LAMA4 p.A225P may be a pathogenic etiology of ARVC/D and hereditary electrocardiogram abnormality.
CONCLUSIONS
The LMNA p.A242V may participate in the pathogenesis of familial ARVC/D with RVHF and cerebral thromboembolism, while LAMA4 p.A225P may be associated with ARVC/D and hereditary electrocardiogram abnormality.
Topics: Amino Acids; Arrhythmogenic Right Ventricular Dysplasia; Death, Sudden; Electrocardiography; Heart Failure; Humans; Lamin Type A; Laminin; Mutation; Ryanodine Receptor Calcium Release Channel; Thromboembolism
PubMed: 35526016
DOI: 10.1186/s13023-022-02348-z -
ESC Heart Failure Oct 2021Giant cell myocarditis (GCM) is a rare condition. Its association with SARS-CoV-2 has not been described before. The 46-year-old female patient was admitted to the...
Giant cell myocarditis (GCM) is a rare condition. Its association with SARS-CoV-2 has not been described before. The 46-year-old female patient was admitted to the clinic on September 2020. She had 7 year adrenal insufficiency history and infarct-like debut of myocardial disease in November 2019. After COVID-19 in April 2020, cardiac disease progressed. The examination showed low QRS voltage, QS complexes in V -V leads, atrial standstill, left ventricular systolic and restrictive dysfunction, elevated anti-heart antibodies, and subepicardial late gadolinium enhancement by magnetic resonance imaging. Endomyocardial biopsy and pacemaker implantation were performed, but the patient died suddenly due to ventricular tachycardia or ventricular fibrillation (the resuscitation was ineffective). The autopsy revealed GCM, SARS-CoV-2, and Parvovirus B19 were detected in the myocardium. The role of SARS-CoV-2 in the pathogenesis of autoimmune myocarditis is discussed.
Topics: COVID-19; Cardiomyopathies; Contrast Media; Death, Sudden, Cardiac; Female; Gadolinium; Genetic Diseases, Inborn; Giant Cells; Heart Atria; Heart Block; Humans; Middle Aged; SARS-CoV-2
PubMed: 34327860
DOI: 10.1002/ehf2.13520 -
Journal of Comparative Pathology Oct 2020The hearts of three dogs, clinically diagnosed as having persistent atrial standstill syndrome (PAS), were studied post mortem. The most significant gross findings in...
The hearts of three dogs, clinically diagnosed as having persistent atrial standstill syndrome (PAS), were studied post mortem. The most significant gross findings in the hearts of all three dogs were dilatation and marked reduction in the thickness of both atrial walls. Histopathologically, all three had widespread progressive loss of the atrial myocardium with replacement by fatty or fibrofatty tissue, consistent with atrial myopathy. The lesion mainly affected the upper half of both atria and was more severe in the epimyocardium and midmyocardium than in the endomyocardium. On the basis of these observations, it is proposed that the atrial myopathy commences in the upper regions of both atria and progresses downwards, as has been demonstrated electrophysiologically in PAS in humans, and extends from the epicardium towards the endocardium.
Topics: Animals; Cardiomyopathies; Dog Diseases; Dogs; Genetic Diseases, Inborn; Heart Atria; Heart Block
PubMed: 33222880
DOI: 10.1016/j.jcpa.2020.08.005 -
The Tohoku Journal of Experimental... Aug 1984A 24-year-old male with chronic atrial standstill underwent an electrophysiologic study. No atrial activity was recorded from the right atrium which did not respond to...
A 24-year-old male with chronic atrial standstill underwent an electrophysiologic study. No atrial activity was recorded from the right atrium which did not respond to stimulation with up to 10 volts. After the administration of atropine, non-localized split atrial potentials appeared, and intraatrial phase 4 block and atrial flutter with intraatrial 2:1 block were observed. The atrium then responded to electrical stimulation (less than 2 volts). Persistent sinus node activity with intraatrial block was found during post-pacing atrial pauses.
Topics: Action Potentials; Adult; Atropine; Electric Stimulation; Electrocardiography; Electrophysiology; Heart; Heart Atria; Heart Block; Humans; Intracranial Embolism and Thrombosis; Male; Sinoatrial Block
PubMed: 6495323
DOI: 10.1620/tjem.143.431 -
The Journal of Physiology Sep 2013Over the last two decades, an increasing number of SCN5A mutations have been described in patients with long QT syndrome type 3 (LQT3), Brugada syndrome, (progressive)... (Review)
Review
Over the last two decades, an increasing number of SCN5A mutations have been described in patients with long QT syndrome type 3 (LQT3), Brugada syndrome, (progressive) conduction disease, sick sinus syndrome, atrial standstill, atrial fibrillation, dilated cardiomyopathy, and sudden infant death syndrome (SIDS). Combined genetic, electrophysiological and molecular studies have provided insight into the dysfunction and dysregulation of the cardiac sodium channel in the setting of SCN5A mutations identified in patients with these inherited arrhythmia syndromes. However, risk stratification and patient management is hindered by the reduced penetrance and variable disease expressivity in sodium channelopathies. Furthermore, various SCN5A-related arrhythmia syndromes are known to display mixed phenotypes known as cardiac sodium channel overlap syndromes. Determinants of variable disease expressivity, including genetic background and environmental factors, are suspected but still largely unknown. Moreover, it has become increasingly clear that sodium channel function and regulation is more complicated than previously assumed, and the sodium channel may play additional, as of yet unrecognized, roles in cardiac structure and function. Development of cardiac structural abnormalities secondary to SCN5A mutations has been reported, but the clinical relevance and underlying mechanisms are unclear. Increased insight into these issues would enable a major next step in research related to cardiac sodium channel disease, ultimately enabling improved diagnosis, risk stratification and treatment strategies.
Topics: Action Potentials; Animals; Brugada Syndrome; Channelopathies; Humans; Long QT Syndrome; Mutation; NAV1.5 Voltage-Gated Sodium Channel
PubMed: 23818691
DOI: 10.1113/jphysiol.2013.256461 -
Korean Circulation Journal Sep 2022
PubMed: 35927039
DOI: 10.4070/kcj.2022.0094 -
Annals of Noninvasive Electrocardiology... Mar 2017Atrial standstill is a rare disorder of cardiac rhythm that is characterized by total absence of electrical activity in one or both atria. We report herein the case of a...
Atrial standstill is a rare disorder of cardiac rhythm that is characterized by total absence of electrical activity in one or both atria. We report herein the case of a patient with atrial fibrillation and symptomatic 4.0 s pauses who received a ventricular demand pacemaker. The patient later underwent mitral valve replacement with a pericardial tissue valve and the Cox-maze III procedure for symptomatic mitral stenosis and atrial fibrillation. Following surgery, he developed atrial standstill and became pacemaker dependent. The pacemaker was later revised to an atrioventricular sequential pacemaker. Twelve hours after revision, atrioventricular sequential pacing was noted and mechanical function of the atria was confirmed by Doppler echocardiography.
Topics: Atrial Fibrillation; Cardiomyopathies; Echocardiography, Doppler; Electrocardiography; Genetic Diseases, Inborn; Heart Atria; Heart Block; Heart Valve Prosthesis; Heart Valve Prosthesis Implantation; Humans; Male; Middle Aged; Mitral Valve Stenosis; Pacemaker, Artificial; Postoperative Complications
PubMed: 27558131
DOI: 10.1111/anec.12399 -
Frontiers in Cardiovascular Medicine 2022Atrial standstill (AS) is a rare condition defined by the lack of atrial electrical and mechanical activities. It is usually clinically manifested as symptomatic...
Atrial standstill (AS) is a rare condition defined by the lack of atrial electrical and mechanical activities. It is usually clinically manifested as symptomatic bradycardia, which requires permanent pacemaker (PPM) implantation. Traditional right ventricular apical pacing causes electrical and mechanical dyssynchrony resulting in left ventricular dysfunction, heart failure, and arrhythmias. As a novel physiological pacing strategy, left bundle branch area pacing (LBBaP) has demonstrated effectiveness and safety in recent years, but its application in exceptional conditions is rarely reported. We report the case of a 47-year-old female, who was diagnosed with AS complicated with a giant atrium, and successfully received a single-chamber PPM with LBBaP.
PubMed: 35425822
DOI: 10.3389/fcvm.2022.836964 -
Anales de Pediatria Dec 2023
Topics: Humans; Cardiomyopathies; Heart Block; Heart Atria; Muscular Dystrophies
PubMed: 37949737
DOI: 10.1016/j.anpede.2023.11.001