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Cardiac involvement in Wilson disease: Review of the literature and description of three cases of sudden death.
Chevalier, K, Benyounes, N, Obadia, MA, Van Der Vynckt, C, Morvan, E, Tibi, T, Poujois, A
Journal of inherited metabolic disease. 2021;(5):1099-1112
Abstract
Wilson disease (WD) is a rare genetic condition that results from a build-up of copper in the body. It requires life-long treatment and is mainly characterized by hepatic and neurological features. Copper accumulation has been reported to be related to the occurrence of heart disease, although little is known regarding this association. We have conducted a systematic review of the literature to document the association between WD and cardiac involvement. Thirty-two articles were retained. We also described three cases of sudden death. Cardiac manifestations in WD include cardiomyopathy (mainly left ventricular (LV) remodeling, hypertrophy, and LV diastolic dysfunction, and less frequently LV systolic dysfunction), increased levels of troponin, and/or brain natriuretic peptide, electrocardiogram (ECG) abnormalities, and rhythm or conduction abnormalities, which can be life-threatening. Dysautonomia has also been reported. The mechanism of cardiac damage in WD has not been elucidated. It may be the result of copper accumulation in the heart, and/or it could be due to a toxic effect of copper, resulting in the release of free oxygen radicals. Patients with signs and/or symptoms of cardiac involvement or who have cardiovascular risk factors should be examined by a cardiologist in addition to being assessed by their interdisciplinary treating team. Furthermore, ECG, cardiac biomarkers, echocardiography, and 24-hours or more of Holter monitoring at the diagnosis and/or during the follow-up of patients with WD need to be evaluated. Cardiac magnetic resonance imaging, although not always available, could also be a useful diagnostic tool, allowing assessment of the risk of ventricular arrhythmias and further guidance of the cardiac workup.
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2.
Genotype-phenotype dilemma in a case of sudden cardiac death with the E1053K mutation and a deletion in the SCN5A gene.
Jenewein, T, Beckmann, BM, Rose, S, Osterhues, HH, Schmidt, U, Wolpert, C, Miny, P, Marschall, C, Alders, M, Bezzina, CR, et al
Forensic science international. 2017;:187-194
Abstract
Mutations in the cardiac sodium channel gene SCN5A may result in various arrhythmia syndromes such as long QT syndrome type 3 (LQTS), Brugada syndrome (BrS), sick sinus syndrome (SSS), cardiac conduction diseases (CCD) and possibly dilated cardiomyopathy (DCM). In most of these inherited cardiac arrhythmia syndromes the phenotypical expression may range from asymptomatic phenotypes to sudden cardiac death (SCD). A 16-year-old female died during sleep. Autopsy did not reveal any explanation for her death and a genetic analysis was performed. A variant in the SCN5A gene (E1053K) that was previously described as disease causing was detected. Family members are carriers of the same E1053K variant, some even in a homozygous state, but surprisingly did not exhibit any pathological cardiac phenotype. Due to the lack of genotype-phenotype correlation further genetic studies were performed. A novel deletion in the promoter region of SCN5A was identified in the sudden death victim but was absent in other family members. These findings demonstrate the difficulties in interpreting the results of a family-based genetic screening and underline the phenotypic variability of SCN5A mutations.
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3.
Ruptured pericardial perivascular epithelioid cell tumor (PEComa) leading to sudden death: an autopsy case report and review of the literature.
Zhang, L, Carpenter, D, Dehner, LP
Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology. 2016;(1):63-6
Abstract
A 30-year-old man with past medical history of atrial fibrillation/flutter passed away after presenting with sudden-onset cardiac dysfunction. The postmortem examination revealed cardiac tamponade secondary to rupture of a 7.2-cm pericardial perivascular epithelioid cell tumor (PEComa). The tumor grossly appeared to arise from the transverse pericardial sinus and focally penetrated the epicardium of the right atrium. Microscopically, it was composed of predominately spindle cells with low nuclear grade, no pleomorphism, or readily apparent mitoses. Immunohistochemistry revealed cytoplasmic reactivity for HMB-45, desmin, and smooth muscle actin. Electron microscopic findings were characterized by melanosome-like structures intermixed with intermediate filaments and abundant stacked endoplasmic reticulum. The present case is unique among previously reported pericardial/myocardial PEComas as a first example resulting in unexpected cardiac tamponade and sudden cardiac death.
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4.
Identification and characterization of a novel genetic mutation with prolonged QT syndrome in an unexplained postoperative death.
Hata, Y, Mori, H, Tanaka, A, Fujita, Y, Shimomura, T, Tabata, T, Kinoshita, K, Yamaguchi, Y, Ichida, F, Kominato, Y, et al
International journal of legal medicine. 2014;(1):105-15
Abstract
INTRODUCTION The human ether-à-go-go-related gene (hERG) encodes the α-subunit of a cardiac potassium channel. Various mutations of hERG, including missense mutations, have been reported to cause long QT syndrome (LQTS) and severe arrhythmic disorders such as sudden cardiac death. We identified a novel hERG frameshift mutation (hERG(ΔAT)) in the S5-pore region from a LQTS patient who died suddenly and analyzed its genetic profile and the molecular and electrophysiological behaviors of the protein product to assess the pathogenicity of hERG(ΔAT). METHODS AND RESULTS We performed direct sequencing of hERG and evaluated its transcript level by using a whole blood sample from the patient. We performed immunoblotting, immunocytochemistry, and patch-clamp recordings of HEK-293 T cells transfected with hERG(ΔAT), wild-type hERG (hERG(WT)), or both. The patient demonstrated an AT deletion (c.1735_1736del) in hERG and a decrease in hERG mRNA transcripts. HEK-293 T cells showed lower production and cell surface expression of hERG(ΔAT) compared with hERG(WT) protein. In addition, the hERG(∆AT) protein failed to form functional channels, while the activation kinetics of functional channels, presumably consisting of hERG(WT) subunits, were unaffected. CONCLUSION The ΔAT mutation may decrease the number of functional hERG channels by impairing the posttranscriptional and posttranslational processing of the mutant product. This decrease may partly explain the cardiac symptoms of the patient who was heterozygous for hERG(ΔAT).
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5.
Coronary artery spasm and ventricular arrhythmias.
Looi, KL, Grace, A, Agarwal, S
Postgraduate medical journal. 2012;(1042):465-71
Abstract
Coronary artery spasm (CAS) is characterised by chest pain at rest and transient ST segment elevation on the ECG. The natural history of variant angina is not fully understood. Patients with CAS are younger, mostly female subjects and usually do not have traditional cardiovascular risk factors other than cigarette smoking. Cardiac arrhythmias are known to be associated with CAS. Ventricular arrhythmia is a well-recognised complication and sudden cardiac death has also been documented. The most important diagnostic tool in CAS is coronary angiography. 24 h ECG Holter monitoring can be very useful in the diagnosis of ventricular arrhythmias caused by CAS. The mainstay therapy for CAS is calcium channel blockers and nitrates. The use of β-blockers, especially the non-selective group, can promote attacks or prolong vasospastic state. The indication for implantable cardioverter defibrillator (ICD) implantation in a patient with CAS is still not clearly established. The role of primary prevention with the use of ICD is controversial; however, ICD implantation should be considered in high risk patients despite optimal medical treatment.
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6.
Induced Brugada-type electrocardiogram, a sign for imminent malignant arrhythmias.
Junttila, MJ, Gonzalez, M, Lizotte, E, Benito, B, Vernooy, K, Sarkozy, A, Huikuri, HV, Brugada, P, Brugada, J, Brugada, R
Circulation. 2008;(14):1890-3
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7.
Aborted sudden cardiac death in two patients with Bartter's/Gitelman's syndromes.
Scognamiglio, R, Negut, C, Calò, LA
Clinical nephrology. 2007;(3):193-7
Abstract
Sudden cardiac death (SCD) occurs in patients with Bartter/Gitelman syndromes. Hypokalemia and QTc prolongation are suggested mechanisms. SCD, however, has also been described at normal potassium concentration. This study reports the cases of one Bartter and one Gitelman patient, who experienced an aborted SCD, and evaluates the possible mechanisms of life-threatening arrhythmias and sudden death in these patients in order to contribute to a systematic screening/treatment protocol for them. After the episode of aborted SCD the patients underwent echocardiographic analysis at resting and during isometric exercise, complete electrophysiologic study and coronary angiography. Ventricular arrhythmias were not inducible during the electrophysiologic study, and coronary vessels were normal at angiography. Exercise induced LV dysfunction with reduction of cardiac index, paradoxical QTc prolongation and prolongation of QTc during nocturnal vagal stimulation in addition to hypokalemia might be identified as possible additional triggering factors for aborted SCD in these patients, leading to the conclusion that hypokalemia might not be the only factor capable of precipitating SCD in Bartter's/Gitelman's syndromes. The identification and recognition of other possible triggering mechanisms is extremely important in these patients and suggests the need for a systematic cardiac screening/treatment protocol for an effective prevention.