scholarly journals Two Cases of Tuberous Sclerosis With Multiple Rhabdomyoma Succumbing to Sudden Cardiac Death

2021 ◽  
pp. 263246362110124
Author(s):  
Manjappa Mahadevappa ◽  
Vikram Patil ◽  
K.S. Poornima ◽  
Sowmya Velamala ◽  
B.V. Guruprasad
Keyword(s):  
Sudden Cardiac Death ◽  
Tuberous Sclerosis ◽  
Cardiac Arrhythmias ◽  
Cardiac Death ◽  
Cardiac Involvement ◽  
Autosomal Dominant ◽  
Specific Treatment ◽  
Organ Systems ◽  
Dominant Condition ◽  
Variable Penetrance

Tuberous sclerosis complex is an autosomal dominant condition with variable penetrance. It is characterized by tuberose deposits in various organ systems. Although clinical features predominate neurocutaneous manifestations, cardiac, kidney, and lung involvement are common. Cardiac involvement is marked by the presence of multiple rhabdomyomas and in some cases arrhythmias. In the absence of symptoms, rhabdomyomas require no specific treatment. However, cardiac arrhythmias are unpredictable and may be the cause of sudden cardiac death in some cases. Although treatment is mainly symptomatic, drugs like rapamycin have shown promise in the regression of astrocytomas and angiofibromas. Here, we are reporting two cases of tuberous sclerosis of which one succumbed to arrhythmias and the other to possible sudden cardiac death.

scholarly journals Dealing with Sudden Cardiac Death: Who Deserves Device Implantation

2019 ◽  
Vol 5 (1 (P)) ◽  
pp. 12
Author(s):  
Dicky Armein Hanafy
Keyword(s):  
Heart Failure ◽  
Coronary Heart Disease ◽  
Heart Disease ◽  
Sudden Cardiac Death ◽  
Cardiac Arrhythmias ◽  
Cardiac Death ◽  
Cardiac Insufficiency ◽  
Resynchronization Therapy ◽  
Icd Implantation ◽  
Life Threatening

Sudden cardiac death is one of the leading causes of death in the western industrial nations. Most people are affected by coronary heart disease (coronary heart disease, CHD) or heart muscle (cardiomyopathy). These can lead to life-threatening cardiac arrhythmias. If the heartbeat is too slow due to impulse or conduction disturbances, cardiac pacemakers will be implanted. High-frequency and life-threatening arrhythmias of the ventricles (ventricular tachycardia, flutter or fibrillation) cannot be treated with a pacemaker. In such cases, an implantable cardioverter-defibrillator (ICD) is used, which additionally also provides all functions of a pacemaker. The implantation of a defibrillator is appropriate if a high risk of malignant arrhythmias has been established (primary prevention). If these life-threatening cardiac arrhythmias have occurred before and are not caused by a treatable (reversible) cause, ICD implantation will be used for secondary prevention. The device can stop these life-threatening cardiac arrhythmias by delivering a shock or rapid impulse delivery (antitachycardic pacing) to prevent sudden cardiac death. Another area of application for ICD therapy is advanced heart failure (heart failure), in which both main chambers and / or different wall sections of the left ventricle no longer work synchronously. This form of cardiac insufficiency can be treated by electrical stimulation (cardiac resynchronization therapy, CRT). Since the affected patients are also at increased risk for sudden cardiac death, combination devices are usually implanted, which combine heart failure treatment by resynchronization therapy and the prevention of sudden cardiac death by life-threatening arrhythmia of the heart chambers (CRT-D device). An ICD is implanted subcutaneously or under the pectoral muscle in the area of the left collarbone. Like pacemaker implantation, ICD implantation is a routine, low-complication procedure today.

Drug-Induced Cardiac Arrhythmias and Sudden Cardiac Death

Iatrogenicity ◽  
2018 ◽  
pp. 62-76
Author(s):  
Aalap Narichania ◽  
Yasuhiro Yokoyama ◽  
Win K. Shen
Keyword(s):  
Sudden Cardiac Death ◽  
Cardiac Arrhythmias ◽  
Cardiac Death ◽  
Drug Induced

scholarly journals Study of genetic markers of cardiac arrhythmias in Kazakhstan

2014 ◽  
Vol 2 ◽  
Author(s):  
Makhabbat Bekbossynova ◽  
Ainur Akilzhanova ◽  
Zhannur Abilova ◽  
Ayan Abdrahmanov ◽  
Omirbek Nuralinov
Keyword(s):  
Ventricular Tachycardia ◽  
Sudden Cardiac Death ◽  
Cardiac Arrhythmias ◽  
Cardiac Death ◽  
Novel Mutation ◽  
Hot Spot ◽  
Receptor Gene ◽  
Polymorphic Ventricular Tachycardia ◽  
Life Threatening ◽  
Genetically Determined

Introduction: Cardiac arrhythmias are the most common cause of mortality and sudden cardiac death worldwide. In the past decade, genetic factors underlying arrhythmogenic diseases have been revealed and given novel insights in to the understanding and treatment of arrhythmias predisposing one to sudden cardiac death.Material and methods: We conducted a pilot genetic screening of two patients with catecholaminergic polymorphic ventricular tachycardia (CPVT) and 14 patients with ventricular tachycardia (VT) for genetic variants in the human ryanodine receptor gene 2 (hRYR2). The most relevant 45 hot-spot exons of hRYR2 were amplified by polymerase chain reaction (PCR) and directly sequenced.Results: One novel mutation in a CPVT patient (c.A13892T; p.D4631V) and a novel mutation in a VT patient (c.G5428C; p.V1810L) were identified. Both variants are located at phylogenetically conserved positions and predicted pathogenesis. Three known synonymous SNPs (rs3765097, rs2253273, and TMP ESp1 237664067) were detected in the study group. No further variants within the target regions were detected in the study group.Conclusion: The results of study can be applied to risk asssessment for life-threatening arrhythmias and assist in development of appropriate strategies for prevention of sudden cardiac death. The implementation of these strategies would assist in the management of patients with genetically determined arrhythmias in Kazakhstan.

scholarly journals Sudden cardiac death and antipsychotic medications: literature review

2012 ◽  
Vol 11 (5) ◽  
pp. 79-82
Author(s):  
V. P. Volkov
Keyword(s):  
Risk Factors ◽  
Sudden Cardiac Death ◽  
Literature Review ◽  
Cardiac Arrhythmias ◽  
Qt Interval ◽  
Cardiac Death ◽  
Psychiatric Patients ◽  
Epidemiological Data ◽  
Antipsychotic Medications ◽  
Electrocardiographic Changes

The review summarises the evidence from international publications on sudden cardiac death (SCD) in psychiatric patients receiving neuroleptics. Modern SCD definitions are presented, together with the relevant epidemiological data. The pathogenesis of fatal cardiac arrhythmias, caused by cardiotoxic effects of antipsychotic medications, is discussed. Electrocardiographic changes, in particular QT interval changes, as well as risk factors of SCD and main principles of its prevention, are described in detail.

Tuberous Sclerosis and Autism

2013 ◽  
Author(s):  
Dan Ehninger ◽  
Alcino J. Silva
Keyword(s):  
Tuberous Sclerosis ◽  
Autosomal Dominant ◽  
De Novo ◽  
Single Gene ◽  
Gene Mutations ◽  
Extended Version ◽  
Single Gene Disorder ◽  
Autosomal Dominant Pattern ◽  
Organ Systems ◽  
The Brain

Tuberous sclerosis (TSC) is a single-gene disorder caused by heterozygous mutations in either the TSC1 or TSC2 genes (Consortium, 1993; van Slegtenhorst et al., 1997). In 70% of cases, TSC gene mutations arise de novo. The remaining 30% of cases are familial with an autosomal dominant pattern of inheritance. Tuberous sclerosis belongs to the group of phakomatoses (neurocutaneous disorders) and is associated with characteristic manifestations in various organ systems, including the brain, skin, kidney, lung, heart, and liver (Crino, Nathanson, & Henske, 2006; Curatolo, Bombardieri & Jozwiak, 2008). Pathological manifestations in these organ systems often include tumor growths or tissue malformations (hamartomas). While penetrance is high, expressivity of TSC phenotypes is highly variable. The birth incidence of TSC is approximately 1:6,000 (Osborne, Fryer, & Webb, 1991). This chapter is an updated and extended version of a previous article on this topic (Ehninger, de Vries, & Silva, 2009)

Inherited and Acquired Vulnerability to Ventricular Arrhythmias: Cardiac Na+ and K+ Channels

2005 ◽  
Vol 85 (1) ◽  
pp. 33-47 ◽  
Author(s):  
Colleen E. Clancy ◽  
Robert S. Kass
Keyword(s):  
Sudden Cardiac Death ◽  
Cardiac Death ◽  
Ventricular Arrhythmias ◽  
Ionic Currents ◽  
Congenital Defects ◽  
Therapeutic Approaches ◽  
K Channels ◽  
Cardiac Excitation ◽  
Variable Penetrance

Mutations in cardiac Na+ and K+ channels can disrupt the precise balance of ionic currents that underlies normal cardiac excitation and relaxation. Disruption of this equilibrium can result in arrhythmogenic phenotypes leading to syncope, seizures, and sudden cardiac death. Congenital defects result in an unpredictable expression of phenotypes with variable penetrance, even within single families. Additionally, phenotypically opposite and overlapping cardiac arrhythmogenic syndromes can stem from one mutation. A number of these defects have been characterized experimentally with the aim of understanding mechanisms of mutation-induced arrhythmia. Improving understanding of abnormalities may provide a basis for the development of therapeutic approaches.

Heart rate variability: prognostic implications

1994 ◽  
Vol 3 (6) ◽  
pp. 476-480 ◽  
Author(s):  
LG Futterman ◽  
L Lemberg
Keyword(s):  
Sudden Cardiac Death ◽  
Cardiac Arrhythmias ◽  
Cardiac Death ◽  
Autonomic Function ◽  
Management Strategies ◽  
Disease Process ◽  
Hrv Analysis ◽  
Prognostic Implications ◽  
Long Term Studies

HRV offers information about sympathetic and parasympathetic autonomic function and thus can serve as a measure of risk stratification for serious cardiac arrhythmias and sudden cardiac death. HRV appears to be altered in patients with acute myocardial infarction or diabetic neuropathy and is affected by other physiologic and pathophysiologic processes. Use of HRV measurements requires continued investigation to determine optimal methods and tools by which HRV indices and its variables are analyzed. Long-term studies are required to help correct for differences in values pertaining to age and disease process. Also, studies are needed to determine how patient management strategies will be affected by knowledge gained through HRV analysis and to determine which patient populations should be monitored for HRV analysis and to identify those at risk for sudden cardiac death.

Implantable Cardioverter Defibrillator Prevents Sudden Cardiac Death in Systemic Sclerosis

2011 ◽  
Vol 38 (8) ◽  
pp. 1617-1621 ◽  
Author(s):  
PASQUALE BERNARDO ◽  
MARIA LETIZIA CONFORTI ◽  
SILVIA BELLANDO-RANDONE ◽  
PAOLO PIERAGNOLI ◽  
JELENA BLAGOJEVIC ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Sudden Cardiac Death ◽  
Cardiac Death ◽  
Ventricular Arrhythmias ◽  
Cardiac Involvement ◽  
Shock Delivery ◽  
Electrical Shock ◽  
Cardioverter Defibrillator ◽  
Cardioverter Defibrillators ◽  
Electrophysiologic Studies

Objective.Cardiac involvement means a poor prognosis in systemic sclerosis (SSc). Conduction defects and arrhythmias are frequent in patients with SSc, and may result in sudden cardiac death. We tested whether electrophysiologic studies and implantation of cardioverter defibrillators are recommended when ventricular arrhythmias are present.Method.A cardioverter defibrillator was implanted in 10 patients with SSc who had heart involvement.Result.After 36 months, analysis of the device showed several episodes of ventricular tachycardia in 3 patients, which were promptly reverted by electrical shock delivery.Conclusion.In patients with SSc who are affected by ventricular arrhythmias, the implantation of a cardioverter defibrillator may prevent sudden cardiac death.

Genetics of Cardiac Arrhythmias and Sudden Cardiac Death

2004 ◽  
Vol 1015 (1) ◽  
pp. 96-110 ◽  
Author(s):  
SILVIA G. PRIORI ◽  
CARLO NAPOLITANO
Keyword(s):  
Sudden Cardiac Death ◽  
Cardiac Arrhythmias ◽  
Cardiac Death

MATERNAL TUBEROUS SCLEROSIS WITH FETAL CARDIAC RHABDOMYOMA – A CASE REPORT

2021 ◽  
pp. 28-30
Author(s):  
Disha Rama Harikanth ◽  
Manjushri Waikar
Keyword(s):  
Tuberous Sclerosis ◽  
Autosomal Dominant ◽  
Monitoring And Evaluation ◽  
Fetal Outcome ◽  
Multiple Organ ◽  
Careful Monitoring ◽  
Cardiac Rhabdomyoma ◽  
Organ Systems ◽  
Neurocutaneous Disorder ◽  
Life Threatening

Tuberous sclerosis is a multisystemic, autosomal dominant neurocutaneous disorder of hamartoma formation affecting multiple organ systems and hence adversely affecting the maternal and fetal outcome. We report a case of maternal tuberous sclerosis with fetal cardiac rhabdomyoma detected in utero at 22 weeks but presented at 39 weeks of gestation. We conclude that Maternal or Fetal tuberous sclerosis deserves careful monitoring and evaluation so that the patients can be counselled regarding its life threatening complications to the baby and make informed decision regarding continuation of pregnancy

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