scholarly journals 629 CPVT and complete atrio-ventricular block: two faces of the same coin?

2021 ◽  
Vol 23 (Supplement_G) ◽  
Author(s):  
Mattia Petrungaro ◽  
Martina Nesti ◽  
Elena Cavaretta ◽  
Zefferino Palamà ◽  
Antonio Scarà ◽  
...  
Keyword(s):  
Ventricular Tachycardia ◽  
Cardiac Mri ◽  
Genetic Test ◽  
Genetic Disorder ◽  
Stress Test ◽  
Pacemaker Implantation ◽  
Clinical Manifestations ◽  
Case Series ◽  
Polymorphic Ventricular Tachycardia ◽  
Av Block

Abstract Aims Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an electrical genetic disease characterized by induction of malignant ventricular arrhythmias during adrenergic stress in structurally normal hearts. CPVT is correlated to syncope or sudden cardiac death (SCD). Usually, it is caused by an autosomal dominant mutation in the cardiac ryanodine receptor (RyR2), an essential gene for Ca2+ homeostasis. Methods and results Our case series refers to: a man (59 years) who came to our attention for a clinical check-up 4 years after implanting bicameral pacemaker at the age of 55 years for complete AV block; and his three sons (E. female 27 years; D. male 25 years; and B. female 17 years) who had evidence of polymorphic non-sustained ventricular tachycardia (NSVT) with increasing effort during stress test. The three sons performed cardiac MRI and underwent genetic test. All three were found to be carriers of the same microdeletion of the RYR 2 gene (1q43- extended for about 49 kb) at the genetic test. They also have non-compacted myocardium at cardiac MRI. The father was also found to be a carrier of the same genetic microdeletion, while the mother was negative to the genetic test. The man was diagnosed to be a carrier of the mutation 4 years after pacemaker implantation. Conclusions Mutation of the RyR2 may have different phenotypic expressions and can be correlated to various clinical manifestations. CPVT is the most common one, and its prompt identification is crucial to prevent subjects from sport-related risks and to plan an efficient therapy. Our case series provides evidence for a careful consideration of such a genetic disorder even in presence of a major AV conduction disease in a relatively young subject. In the present case series, no major adverse events occurred. However, we can, in the aftermath, speculate that if a genetic disorder had been suspected when AV block occurred, a timely diagnosis could have been made earlier also for the sons.

Syncope caused by complete heart block and ventricular arrhythmia as early manifestation of systemic lupus erythematosus in a pregnant patient: a case report

Lupus ◽  
2018 ◽  
Vol 27 (10) ◽  
pp. 1729-1731 ◽  
Author(s):  
C H Lo ◽  
J C C Wei ◽  
C F Tsai ◽  
L C Li ◽  
S W Huang ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Ventricular Tachycardia ◽  
Ventricular Arrhythmia ◽  
Clinical Features ◽  
Lupus Erythematosus ◽  
Pregnant Patient ◽  
Polymorphic Ventricular Tachycardia ◽  
Av Block ◽  
Systemic Lupus ◽  
Complete Av Block

Systemic lupus erythematosus (SLE) can affect all heart structures including the conduction system, with either reversible or permanent derangement. However, only a few cases of adult SLE and complete atrioventricular (AV) block have been reported. We describe a young pregnant woman who initially presented with complete AV block on electrocardiography before the diagnosis of SLE. Syncope subsequently developed during the postpartum period due to frequent nonsustained polymorphic ventricular tachycardia, suggesting lupus myocarditis. The ventricular arrhythmia was successfully treated by intravenous corticosteroids, lidocaine and implantation of a permanent pacemaker. This may represent the first report of complete AV block with polymorphic ventricular tachycardia, which was identified before the other clinical features of SLE fully manifested. SLE should be considered if a patient presents with complete AV block without other clinical features. It may warn for early diagnosis and appropriate treatment of SLE including lupus-related heart disease.

838Premature Cardiac Conduction Disease in families, potential role for Implantable Loop Recorder in screening? A Case Series

EP Europace ◽  
2020 ◽  
Vol 22 (Supplement_1) ◽  
Author(s):  
Z Sharif ◽  
L M Murphy ◽  
K A H Al-Harbi ◽  
C B Brennan ◽  
H C Connaughton ◽  
...  
Keyword(s):  
Diagnostic Yield ◽  
Stress Test ◽  
Case Series ◽  
Exercise Stress Test ◽  
Cardiac Risk ◽  
Exercise Stress ◽  
Cardiac Conduction ◽  
Polymorphic Ventricular Tachycardia ◽  
Target Heart Rate ◽  
Loop Recorder

Abstract OnBehalf Cardiac Risk in the Young (CRY) Ireland Background   Cardiac conduction disease (CCD) is a potentially fatal entity. The spectrum ranges from benign clinical course to potentially precipitating sudden cardiac death. Permanent pacemaker (PPM) may benefit affected individuals but the genetic basis of CCD may be underestimated. No prior study has investigated the utility of screening relatives of victims of Sudden Arrhythmic Death Syndrome (SADS) with implantable loop recorders (ILR).  Methods  We describe 7 families referred to our inherited cardiac conditions service with a family history of SADS, in whom we identified premature CCD. ILR was utilized in screening the majority of families.  Results  Of 63 individuals screened, 31 (49%) had ILR insertion with 7 (11%) requiring PPM implant. 2/31 had normal baseline tests, and were identified post ILR implant. Other CCD not yet meeting clinical significance was detected in 10/31 (32%) individuals. These findings (documented 11 to 330 days post implant) included pauses of 3-5.8 seconds (n = 7), nocturnal bradycardia < 34 bpm (n = 2) and non-sustained polymorphic ventricular tachycardia. Of families undergoing mutation analysis, conventional genetic panels have been negative to date. Conclusions  Inherited premature CCD with variable penetrance may be an under-recognized cause of SADS.  To date 12/31 (39%) of individuals with ILR have findings suggesting inherited CCD. As inheritance pattern suggests autosomal dominant transmission, longer follow up may identify more affected individuals. Clinicians involved in SADS family evaluations should consider adding ILR implantation to routine assessment to improve diagnostic yield. We suggest a larger prospective study of consecutive families whose initial investigations following a SADS death have not identified a cause. Summary of Findings Screening Abnormality Family 1 Family 2 Family 3 Family 4 Family 5 Family 6 Family 7 Bradycardia Yes Yes Yes Yes Yes Yes Yes PR >200 Yes No No No No No No <90% PTHR EST No No No No No No No Arrhythmia on EST Yes No No No No Yes No Pauses > 3s Holter/Telemetry Yes No Yes No Yes No Yes High grade AV block Holter Yes Yes No No No No No ILR: significant to date Yes Yes No No No No - ILR: findings to monitor Yes No Yes Yes No Yes - Provocation Testing No Negative No No No No No Genetics Negative Negative Awaited Awaited Awaited Awaited Negative PTHR predicted target heart rate, EST: exercise stress test

scholarly journals Catecholaminergic polymorphic ventricular tachycardia in pregnancy: a case report

2020 ◽  
Vol 14 (1) ◽  
Author(s):  
Amy Schumer ◽  
Stephen Contag
Keyword(s):  
Ventricular Tachycardia ◽  
Motor Vehicle ◽  
Motor Vehicle Accident ◽  
Genetic Disorder ◽  
Catecholaminergic Polymorphic Ventricular Tachycardia ◽  
Polymorphic Ventricular Tachycardia ◽  
Case Presentation ◽  
Vehicle Accident ◽  
Inherited Arrhythmia ◽  
In Pregnancy

Abstract Introduction Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a genetic disorder that can cause fatal tachyarrhythmias brought on by physical or emotional stress. There is little reported in the literature regarding management of CPVT in pregnancy much less during labor. Case presentation A gravida 2, para 1 presented to our high-risk clinic at 15 weeks gestation with known CPVT. The Caucasian female patient had been diagnosed after experiencing a cardiac arrest following a motor vehicle accident and found to have a pathogenic cardiac ryanodine receptor mutation. An implantable cardioverter defibrillator was placed at that time. Her pregnancy was uncomplicated, and she was medically managed with metoprolol, flecainide, and verapamil. Her labor course and successful vaginal delivery were uncomplicated and involved a multidisciplinary team comprising specialists in electrophysiology, maternal fetal medicine, anesthesiology, general obstetrics, lactation, and neonatology. Conclusions CPVT is likely underdiagnosed and, given that cardiovascular disease is a leading cause of death in pregnancy, it is important to bring further awareness to the diagnosis and management of this inherited arrhythmia syndrome in pregnancy.

scholarly journals Clinical Characteristics, Genetic Findings and Arrhythmic Outcomes of Patients with Catecholaminergic Polymorphic Ventricular Tachycardia from China

2021 ◽  
Author(s):  
Sharen Lee ◽  
Justin Leung ◽  
Jiandong Zhou ◽  
Kamalan Jeevaratnam ◽  
Ishan Lakhani ◽  
...  
Keyword(s):  
Ventricular Tachycardia ◽  
Clinical Characteristics ◽  
Beta Blockers ◽  
Case Reports ◽  
Meta Analysis ◽  
Case Series ◽  
Catecholaminergic Polymorphic Ventricular Tachycardia ◽  
Systemic Review ◽  
Polymorphic Ventricular Tachycardia ◽  
Old Patients

Introduction: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare cardiac ion channelopathy. The aim of this study is to examine the genetic basis and identify predictive factors for arrhythmic outcomes of CPVT patients from China. Methods: PubMed and MedRxiv were systematically searched for case reports or case series reporting on CPVT patients from China. Clinical characteristics, genetic findings and primary outcome of spontaneous ventricular tachycardia/ventricular fibrillation (VT/VF) were analyzed. Results: A total of 56 (median presentation age=9 [6-13] years old) patients were included. All patients except for one presented at or before 19 years of age. Fifty-three patients (94.6%) were initially symptomatic. PVCs were present in 40 out of 45 patients (88.9%) and VT in 51 out of 56 patients (91.1%). Genetic tests were performed in 50 patients (89.3%). RyR2, CASQ2 and TERCL mutations were found in 32 (57.1%), 11 (19.6%) and one (0.02%) patients, respectively. Fifty patients were treated with beta-blockers, eight patients received flecainide, four patients received amiodarone, two received verapamil and one received propafenone. Sympathectomy (n=10) and implantable-cardioverter defibrillator implantation (n=7) were performed. On follow-up, 17 patients developed incident VT/VF. Conclusion: This is the first systemic review and meta-analysis of CPVT patients from China. Most patients had symptoms on initial presentation, and around a third had VT as the presenting complaint. RyR2 mutation accounts for more than half of the CPVT cases, followed by CASQ2 and TERCL mutations. Some of these mutations have not been hitherto reported outside of China. Most patients received β-blocker therapy. Around 18% had sympathectomy and 13% had ICDs implanted.

scholarly journals Polymorphic ventricular tachycardia during a stress test

2009 ◽  
Vol 2009 (mar08 1) ◽  
pp. bcr1020081168-bcr1020081168
Author(s):  
C. C Dunbar ◽  
H. Dilmanian ◽  
B. I Saul
Keyword(s):  
Ventricular Tachycardia ◽  
Stress Test ◽  
Polymorphic Ventricular Tachycardia

scholarly journals Screening Children with a Family History of Central Congenital Hypoventilation Syndrome

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Hina Emanuel ◽  
Kimberly Rennie ◽  
Kelly Macdonald ◽  
Aravind Yadav ◽  
Ricardo A. Mosquera
Keyword(s):  
Family History ◽  
Genetic Disorder ◽  
Neuropsychological Testing ◽  
Clinical Manifestations ◽  
Case Series ◽  
Blood Gas Analysis ◽  
Cor Pulmonale ◽  
Gas Analysis ◽  
Neuropsychological Evaluations ◽  
Hypoventilation Syndrome

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder of an autonomic nervous disorder that affects breathing. It is characterized by respiratory insufficiency secondary to insensitivity to hypoxemia and hypercarbia, particularly during sleep leading to persistent apnea. We report four individuals across two generations harboring heterozygous 25 polyalanine repeats mutations (PARMs) in PHOX2B with a varying degree of phenotypic clinical manifestations. Two family members who reported to be “asymptomatic” were subsequently diagnosed with CCHS, based on genetic testing, obtained because of their family history. Genetic studies in the family including a mother and three offsprings revealed in-frame five amino acid PARMs of PHOX2B consistent with CCHS in addition to full clinical assessment. All affected individuals had evidence of hypercapnia on blood gas analysis with PCO2 in the range of 32–70 (mean; 61). Nocturnal polysomnogram revealed evidence of hypoventilation in two individuals (1 offspring and mother) with the end-tidal CO2 median of 54. Magnetic resonance imaging of brain revealed no abnormalities in the brain stem. There was no evidence of cor pulmonale on echocardiograms in all individuals. Neuropsychological testing was conducted on all four patients; two patients (mother and 1 offspring) had normal results, while the other two offspring exhibited some impairments on neuropsychological testing. This case series emphasizes the importance of screening first-degree relatives of individuals with confirmed CCHS to minimize complications associated with long-term ventilatory impairment. It also suggests that some patients with CCHS should undergo neuropsychological evaluations to assess for cognitive weaknesses secondary to their CCHS.

Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13

2020 ◽  
Vol 33 (1) ◽  
pp. 157-163 ◽  
Author(s):  
Melis Demir Köse ◽  
Mehtap Kagnici ◽  
Taha Reşit Özdemir ◽  
Cahit Barış Erdur ◽  
Gülin Erdemir ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Genetic Disorder ◽  
Laboratory Data ◽  
Clinical Manifestations ◽  
Case Series ◽  
Clinical Findings ◽  
First Case ◽  
Age Related ◽  
Citrin Deficiency ◽  
Turkish Patients

AbstractBackgroundCitrin deficiency (CD) is an autosomal recessive genetic disorder caused by a defect in the mitochondrial aspartate/glutamate antiporter, citrin. Three clinical manifestations have been described until today.Case presentationWe reported 5 CD patients from two families. Four patients were male and one patient was female. Two of them have NICCD (neonatal intrahepatic cholestasis caused by citrin deficiency); three of them have CTLN2 (adult-onset type II citrullinemia). Both NICCD patients showed typical clinical and biochemical changes with a diagnosis confirmed by mutations in the SLC25A13 gene. We detected a previously unreported homozygous novel mutation c.478delC (L160Wfs*36 ) on the SLC25A13 gene. All of the CTLN2 patients were siblings. Proband was a 15-year-old mentally retarded and autistic male who had admitted to our emergency with disorientation. Laboratory data showed hyperammonemia and citrullinemia.ConclusionsTwo different profiles of age-related CD have been depicted with this article. It has been aimed to underline that the CD can be observed in different forms not only in neonatals or little infants but also in adolescents. This article is the first case series that covers both NICCD and CTLN2 cases together and that has been published in Turkey. Considering the fact that especially the majority of CTLN2 cases have been identified in Asian countries, our article has vital importance in terms of defining phenotypic features of the disease.

Abstract 16643: Pacemaker For First Degree AV Block Without Bradycardia: Pseudo-pacemaker Syndrome

Circulation ◽  
2021 ◽  
Vol 144 (Suppl_2) ◽  
Author(s):  
Muhammad Hamza Saad Shaukat ◽  
Fouad Khalil ◽  
Mamoon Ahmed ◽  
Marian S Petrasko
Keyword(s):  
Left Atrial ◽  
Stress Test ◽  
Pacemaker Implantation ◽  
P Wave ◽  
Av Block ◽  
Dual Chamber ◽  
Dual Chamber Pacemaker ◽  
Patient Reported ◽  
Pr Interval ◽  
Pacemaker Syndrome

Case Presentation: An 86 year old man underwent PCI of distal LAD for severe single vessel coronary artery disease identified after a high risk pharmacologic nuclear stress test (evaluation of exertional fatigue prior to abdominal aortic aneurysm surgical repair). ECHO was consistent with preserved LVEF (60-65%), moderate concentric LVH and mild left atrial enlargement. Less than a week after PCI, he presented to the emergency department for NYHA III dyspnea and fatigue. The patient was not taking any negative chronotropic medications. CT angiography of the chest excluded pulmonary edema, pneumonia and pulmonary embolism; repeat limited ECHO was unchanged. EKG showed first degree AV block (PR 400ms, figure 1). Severely prolonged PR interval with otherwise-unexplained exertional symptoms raised suspicion for pseudo-pacemaker syndrome. In the absence of an alternative cause of declining exertional tolerance, a dual chamber pacemaker with short programmed AV delay (<200ms) was implanted. The patient reported resolution of exertional fatigue and dyspnea on one-month followup. Discussion: Pseudo-pacemaker syndrome is a rare, infrequently reported, complication of first degree AV block with severely prolonged PR>300ms. P-wave at the end of the preceding T-wave suggests AV dyssynchrony (arrowhead, figure 1). Left atrial contraction against a closed mitral valve led to loss of atrial contribution to cardiac output, and elevated left atrial pressure. These changes, accentuated by physiologic increase in heart rate on exertion, most likely caused symptoms in this patient. It is interesting that AV dyssynchrony in pacemaker syndrome is caused by the pacemaker (VVI pacing) whereas the AV dyssynchrony in pseudo-pacemaker syndrome from severely prolonged PR interval is treated with a pacemaker. In the appropriate clinical picture, it is an indication for dual-chamber pacemaker implantation for first degree AV block without bradycardia or pauses.

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