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Genes Jul 2023Danon disease is a rare x-linked dominant multisystemic disorder with a clinical triad of severe cardiomyopathy, skeletal myopathy, and intellectual disability. It is... (Review)
Review
Danon disease is a rare x-linked dominant multisystemic disorder with a clinical triad of severe cardiomyopathy, skeletal myopathy, and intellectual disability. It is caused by defects in the lysosome-associated membrane protein-2 () gene. Numerous different mutations in the protein have been described. Danon disease is typically lethal by the mid-twenties in male patients due to cardiomyopathy and heart failure. Female patients usually present with milder and variable symptoms. This report describes a 42-year-old father and his 3-year-old daughter presenting with mild manifestations of the disease. The father has normal intellectual development and normal physical activity. At the age of 13, he was diagnosed with mild ventricular pre-excitation known as Wolf-Parkinson-White syndrome (WPWs), very mild and mostly asymptomatic cardiomyopathy and left ventricular hypertrophy, and at about the age of 25 presented with visual impairment due to cone-rod dystrophy. His daughter showed normal development and very mild asymptomatic electrocardiographic WPWs abnormalities with left mild ventricular hypertrophy. Genetic testing revealed an Xq24 microdeletion encompassing the entire gene. Relevant literature was reviewed as a reference for the etiology, diagnosis, treatment and case management.
Topics: Female; Male; Humans; Glycogen Storage Disease Type IIb; Gene Deletion; Genes, Regulator; Heart Failure; Cone-Rod Dystrophies; Lysosomal-Associated Membrane Protein 2
PubMed: 37628591
DOI: 10.3390/genes14081539 -
Current Cardiology Reviews Aug 2014T wave "memory" is a peculiar variety of cardiac remodeling caused by a transient change in the course of ventricular depolarization (due to ventricular pacing,... (Review)
Review
T wave "memory" is a peculiar variety of cardiac remodeling caused by a transient change in the course of ventricular depolarization (due to ventricular pacing, rate-dependent intraventricular block, ventricular preexcitation or tachyarrhythmias with wide QRS complexes). It is usually manifested by inverted T waves that appears when normal ventricular activation is restored. This phenomenon is cumulative and occurs earlier if the ventricular myocardium has previously been exposed to the same conditioning stimuli. In this article the different conditions giving rise to "classical" T wave memory development are reviewed and also "another" type of T wave memory is described. It is also shown that cardiac memory may induce not only negative (pseudo-primary) T waves but also a reversal of primary and pseudoprimary T waves leading to "normalization" of ventricular repolarization. The knowledge of these dissimilar consequences of T wave memory is essential to assess the characteristics of ventricular repolarization.
Topics: Arrhythmias, Cardiac; Bundle-Branch Block; Cardiac Pacing, Artificial; Catheter Ablation; Electrocardiography; Heart Conduction System; Heart Ventricles; Humans; Pre-Excitation Syndromes; Tachycardia; Ventricular Premature Complexes
PubMed: 24827802
DOI: 10.2174/1573403x10666140514102021 -
Cardiovascular Ultrasound May 2022PRKAG2 syndrome is a rare disease characterized as left ventricular hypertrophy (LVH), ventricular preexcitation syndrome, and sudden cardiac death. Its natural course,...
Echocardiographic characteristics of PRKAG2 syndrome: a research using three-dimensional speckle tracking echocardiography compared with sarcomeric hypertrophic cardiomyopathy.
BACKGROUND
PRKAG2 syndrome is a rare disease characterized as left ventricular hypertrophy (LVH), ventricular preexcitation syndrome, and sudden cardiac death. Its natural course, treatment, and prognosis were significantly different from sarcomeric hypertrophic cardiomyopathy (HCM). However, it is often clinically misdiagnosed as sarcomeric HCM. PRKAG2 patients tend to experience delayed treatment. The delay may lead to adverse outcomes. This study aimed to identify the echocardiographic parameters which can differentiate PRKAG2 syndrome from sarcomeric HCM.
METHODS
Nine PRKAG2 patients with LVH, 41 HCM patients with sarcomere gene mutations, and 202 healthy volunteers were enrolled. Clinical characteristics, conventional echocardiography, and three-dimensional images were recorded, and reviewed by an attending cardiologist. We evaluated the parameters of left ventricular strains from three-dimensional speckle tracking echocardiography (3D STE) by TomTec software. Receiver operating characteristic (ROC) curves analysis was used to assess clinical and echocardiographic parameters' differential diagnosis potential.
RESULTS
The heart rate (HR) of the PRKAG2 group was significantly lower than both the healthy group (53.11 ± 10.14 vs. 69.22 ± 10.48 bpm, P < 0.001) and the sarcomeric HCM group (53.11 ± 10.14 vs. 67.23 ± 10.32 bpm, P = 0.001). The PRKAG2 group had similar interventricular septal thickness (IVS), posterior wall thickness (PWT), and maximum wall thickness (MWT) to the HCM group (P > 0.05). The absolute value of GLS in the PRKAG2 group was significantly higher than HCM patients (-18.92 ± 4.98 vs. -13.43 ± 4.30%, P = 0.004). SV calculated from EDV and ESV in PRKAG2 syndrome showed a higher value than sarcomeric HCM (61.83 ± 13.52 vs. 44.96 ± 17.53%, P = 0.020). The area under the ROC curve (AUC) for HR + GLS was 0.911 (0.803 -1). For HR + GLS, the sensitivity and specificity of the best cut-off value (0.114) were 69.0% and 100%, respectively.
CONCLUSIONS
PRKAG2 patients present deteriorated LV diastolic function and preserved LV systolic function. Bradycardia and preserved GLS are useful to identify PRKAG2 syndrome from sarcomeric HCM, which may be beneficial for clinical decision-making.
Topics: AMP-Activated Protein Kinases; Cardiomyopathy, Hypertrophic; Echocardiography; Echocardiography, Three-Dimensional; Heart Ventricles; Humans; Hypertrophy, Left Ventricular; Sarcomeres; Ventricular Function, Left
PubMed: 35509080
DOI: 10.1186/s12947-022-00284-3 -
Pacing and Clinical Electrophysiology :... Sep 2018Atrial arrhythmias, particularly atrioventricular nodal reentrant tachycardia, can coexist with drug-induced type 1 Brugada electrocardiogram (ECG) pattern...
BACKGROUND
Atrial arrhythmias, particularly atrioventricular nodal reentrant tachycardia, can coexist with drug-induced type 1 Brugada electrocardiogram (ECG) pattern (DI-Type1-BrP). The present study was designed to determine the prevalence of DI-Type1-BrP in patients with atrioventricular accessory pathways (AV-APs) and to investigate the clinical, electrocardiographic, electrophysiologic, and genetic characteristics of these patients.
METHODS
One-hundred twenty-four consecutive cases of AV-APs and 84 controls underwent an ajmaline challenge test to unmask DI-Type1-BrP. Genetic screening and analysis was performed in 55 of the cases (19 with and 36 without DI-Type1-BrP).
RESULTS
Patients with AV-APs were significantly more likely than controls to have a Type1-BrP unmasked (16.1 vs 4.8%, P = 0.012). At baseline, patients with DI-Type1-BrP had higher prevalence of chest pain, QR/rSr' pattern in V and QRS notching/slurring in V and aVL during preexcitation, rSr' pattern in V -V , and QRS notching/slurring in aVL during orthodromic atrioventricular reentrant tachycardia (AVRT) compared to patients without DI-Type1-BrP. Abnormal QRS configuration (QRS notching/slurring and/or fragmentation) in V during preexcitation was present in all patients with DI-Type1 BrP. The prevalence of spontaneous preexcited atrial fibrillation (AF) and history of AF were similar (15% vs 18.3%, P = 0.726) in patients with and without DI-Type1-BrP, respectively. The prevalence of mutations in Brugada-susceptibility genes was higher (36.8% vs 8.3%, P = 0.02) in patients with DI-Type1-BrP compared to patients without DI-Type1-BrP.
CONCLUSIONS
DI-Type1-BrP is relatively common in patients with AV-APs. We identify 12-lead ECG characteristics during preexcitation and orthodromic AVRT that point to an underlying type1-BrP, portending an increased probability for development of malignant arrhythmias.
Topics: Accessory Atrioventricular Bundle; Adolescent; Adult; Aged; Ajmaline; Brugada Syndrome; Case-Control Studies; Echocardiography; Electrocardiography; Electrophysiologic Techniques, Cardiac; Female; Humans; Male; Middle Aged; Phenotype; Pre-Excitation Syndromes; Radiofrequency Ablation; Tachycardia, Atrioventricular Nodal Reentry
PubMed: 29953624
DOI: 10.1111/pace.13414 -
Indian Pacing and Electrophysiology... 2015A 15-year-old female with WPW syndrome and normal heart underwent an electrophysiology study for paroxysmal palpitations and syncope. Intravenous adenosine produced an...
A 15-year-old female with WPW syndrome and normal heart underwent an electrophysiology study for paroxysmal palpitations and syncope. Intravenous adenosine produced an unexpected response of QRS changes and advanced AV block. During isoproteronol infusion, short-lasting and poorly tolerated wide QRS tachycardia was inducible, but pacing maneuvers were not feasible during tachycardia to determine its definitive mechanism. However, various electrophysiologic phenomena including adenosine response, junctional beats pattern, and multisite atrial pacing were helpful to overcome the diagnosis challenges. Finally, careful evaluation of tachycardia features and the comprehensive electrophysiology study were crucial to establish presence of unusual preexcitation variants, and thus to guide successful catheter ablation of the arrhythmic substrate.
PubMed: 26937125
DOI: 10.1016/j.ipej.2015.11.001 -
Journal of the American College of... Sep 2022Data regarding recurrence risk among infants with supraventricular tachycardia (SVT) are limited.
BACKGROUND
Data regarding recurrence risk among infants with supraventricular tachycardia (SVT) are limited.
OBJECTIVES
The purpose of this study was to determine incidence and factors associated with SVT recurrence.
METHODS
This was a retrospective single-center study (1984-2020) with prospective phone follow-up of infants with structurally normal hearts diagnosed at age ≤1 year with re-entrant SVT. Primary outcome was first SVT recurrence after hospital discharge. Classification and regression tree analysis was performed to determine a risk algorithm.
RESULTS
Among 460 infants (62% male), 87% were diagnosed at ≤60 days of age (median 13 days; IQR: 1-31 days). During a median follow-up of 5.2 years (IQR: 1.8-11.2 years), 33% had recurrence. On multivariable analysis, factors associated with recurrence included: fetal or late (>60 days) diagnosis (HR: 1.90; 95% CI: 1.26-2.86; and HR: 1.73; 95% CI: 1.07-2.77, respectively), Wolff-Parkinson-White (WPW) syndrome (HR: 2.46; 95% CI: 1.75-3.45), and need for multi-antiarrhythmic or second-line therapy (HR: 2.08; 95% CI: 1.45-2.99). Based on the classification and regression tree analysis, WPW incurred the highest risk. Among those without WPW, age at diagnosis was the most important factor predicting risk. Fetal or late diagnosis incurred higher risk, and if multi-antiarrhythmic or second-line therapy was also required, risk nearly doubled. Infants without WPW, who were diagnosed early (0-60 days), and who were discharged on propranolol were at lowest recurrence risk.
CONCLUSIONS
Infants with SVT are most likely to be diagnosed at ≤60 days and be male. Risk factors for recurrence (occurred in 33%), present at time of diagnosis, include WPW, fetal or late diagnosis, and multi-antiarrhythmic or second-line therapy. Infants with early diagnosis, without WPW, and discharged on first-line monotherapy are at lowest recurrence risk.
Topics: Anti-Arrhythmia Agents; Humans; Infant; Propranolol; Prospective Studies; Retrospective Studies; Tachycardia, Supraventricular; Wolff-Parkinson-White Syndrome
PubMed: 36109110
DOI: 10.1016/j.jacc.2022.06.038 -
Annals of Noninvasive Electrocardiology... Nov 2016Preexcitation syndrome could affect terminal QRS vector, which is not emphasized in clinic. In this study, we made a comparison between vectorcardiogram (VCG) before and...
BACKGROUND
Preexcitation syndrome could affect terminal QRS vector, which is not emphasized in clinic. In this study, we made a comparison between vectorcardiogram (VCG) before and after ablation to observe the change of terminal QRS vector. Furthermore, the relationship between the change of terminal QRS vector and accessory pathway (AP) as well as the change of initial QRS vector (delta vector) was analyzed.
METHODS
Thirty patients who were proved to have a single AP by ablation were included. All patients were divided into seven groups based on the AP location. Comparison between VCG before and after ablation was made to observe the change of terminal and delta vector. The relationship between the change of terminal QRS vector and AP location as well as delta vector was analyzed.
RESULTS
(1) All 30 patients had a change in terminal QRS vector (elevation and/or azimuth) in comparison to postablation VCG. (2) The change of terminal QRS vector was related to delta vector and AP location. The agreement and consistency between the change of terminal QRS vector and delta vector were 91.65% and 0.856 (P < 0.01), respectively.
CONCLUSIONS
(1) Both initial and terminal QRS vector are affected by the antegrade conduction of AP. The change of terminal QRS vector is related to the AP location and delta vector. (2) The effect of preexcitation syndrome on QRS terminal vector is shown as more intuitive and easy in spatial vector by comparison with electrocardiogram, which is helpful for the diagnosis of atypical preexcitation and localization of AP.
Topics: Accessory Atrioventricular Bundle; Adolescent; Adult; Aged; Catheter Ablation; Child; Electrocardiography; Female; Humans; Middle Aged; Pre-Excitation Syndromes; Treatment Outcome; Vectorcardiography
PubMed: 26820616
DOI: 10.1111/anec.12347 -
Circulation Journal : Official Journal... Jan 2022Danon disease is typically associated with cardiomyopathy and ventricular pre-excitation. The study aimed to characterize the clinical profile of Danon disease, analyze...
BACKGROUND
Danon disease is typically associated with cardiomyopathy and ventricular pre-excitation. The study aimed to characterize the clinical profile of Danon disease, analyze electrocardiographic (ECG) and electrophysiologic features, and investigate their association with Wolff-Parkinson-White (WPW) syndrome and fasciculoventricular pathways (FVPs).Methods and Results:Clinical course, family history, ECG and electrophysiological data were collected from 16 patients with Danon disease. Over 0.4-8 years of follow up, 1 female patient died suddenly, and 5 male patients died of progressive heart failure by age 13-20 years. Family history analysis revealed that 3 mothers experienced hospitalization or death for heart failure at age 28-41 years. There was 100% penetrance for ECG abnormalities in 13 patients with original ECGs. Short PR intervals and delta waves were present in 9 and 8 patients, respectively. There were significant age-associated increases in the QRS complex width (r=0.556, P=0.048) and the number of leads with notched QRS (r=0.575, P=0.04). Four patients who underwent electrophysiological studies all had FVPs, and 2 of them still had left-side atrioventricular pathways.
CONCLUSIONS
Danon disease causes a malignant clinical course characterized by early death caused by heart failure in both genders and progressive ECG changes as patients age. The pre-excited ECG pattern is related to FVPs and WPW, which is suggestive of extensive cardiac involvement.
Topics: Accessory Atrioventricular Bundle; Adolescent; Adult; Arrhythmias, Cardiac; Electrocardiography; Female; Glycogen Storage Disease Type IIb; Heart Failure; Humans; Male; Pre-Excitation Syndromes; Wolff-Parkinson-White Syndrome; Young Adult
PubMed: 34937809
DOI: 10.1253/circj.CJ-21-0572 -
BMC Medical Genetics Jan 2018The Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2 (PRKAG2) cardiac syndrome is characterized by glycogen accumulation in the cardiac tissue. The disease...
BACKGROUND
The Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2 (PRKAG2) cardiac syndrome is characterized by glycogen accumulation in the cardiac tissue. The disease presents clinically with hypertrophic cardiomyopathy (HCM), and it is often associated with conduction abnormalities.
CASE PRESENTATION
A 23 year-old female with history of Wolff-Parkinson-White (WPW) and HCM presented for evaluation after an episode of Non-ST Elevation Myocardial Infarction (NSTEMI). The patient was found to have severe coronary bridging on angiography and underwent an unroofing of the left anterior descending artery (LAD). Due to the constellation of symptoms, the patient underwent genetic testing and a cardiac muscle biopsy. Genetic testing was significant for an Arg302Gln mutation in the PRKAG2 gene. Cardiac tissue biopsy revealed significant myocyte hypertrophy and large vacuoles with glycogen stores.
CONCLUSION
The pathologic and genetics findings of our patient are consistent with PRKAG2 syndrome. Patients presenting with conduction abnormalities and suspected HCM should be considered for genetic testing to identify possible underlying genetic etiologies.
Topics: AMP-Activated Protein Kinases; Angiography; Biopsy; Cardiomyopathy, Hypertrophic; Chromosomes, Human, Pair 7; Female; Genetic Testing; Heart; Humans; Mutation; Myocardium; Non-ST Elevated Myocardial Infarction; Wolff-Parkinson-White Syndrome; Young Adult
PubMed: 29298659
DOI: 10.1186/s12881-017-0512-6 -
Journal of Interventional Cardiac... Oct 2022Patients with WPW syndrome have an increased mortality rate compared to the general population. Although asymptomatic preexcitation has previously been considered...
PURPOSE
Patients with WPW syndrome have an increased mortality rate compared to the general population. Although asymptomatic preexcitation has previously been considered benign, recent studies have found that also asymptomatic patients have clinical and electrophysiological factors associated with increased risk of sudden cardiac death. This study compares the baseline electrophysiological characteristics of accessory pathways in symptomatic and asymptomatic patients with preexcitation. We hypothesized that a significant proportion of asymptomatic patients has inducible orthodromic tachycardia during programmed electrical stimulation.
METHODS
This retrospective study includes 1853 patients with preexcitation who underwent invasive electrophysiological testing in two Swedish University Hospitals between 1991 and 2018. The mean age was 36 ± 17 years with a range of 3-89 years. Thirty-nine percent was women. A total of 269 patients (15%) were children younger than 18 years. Electrophysiological data included effective refractory period of the accessory pathway (APERP, in 1069 patients), tachycardia cycle length, inducibility and type of tachycardia, and AP localization.
RESULTS
A total of 1703 (93%) patients reported symptoms suggesting tachyarrhythmias before the study and 128 (7%) were asymptomatic. The proportion of potentially dangerous pathways with short APERP (≤ 250 ms) were similar in symptomatic and asymptomatic patients (187/949, 20% vs. 25/108, 23%) (P = 0.40) as was the mean APERP (303 ± 68 ms vs. 307 ± 75) (P = 0.61). The proportion of patients who had inducible arrhythmia was larger in the symptomatic group (64% vs. 31%) (P < 0.001).
CONCLUSION
The results of this study strengthen the present guideline recommendation (IIA) to consider invasive risk assessment in patients with asymptomatic preexcitation.
Topics: Accessory Atrioventricular Bundle; Adolescent; Adult; Aged; Aged, 80 and over; Child; Child, Preschool; Electrocardiography; Female; Humans; Middle Aged; Pre-Excitation Syndromes; Retrospective Studies; Tachycardia; Wolff-Parkinson-White Syndrome; Young Adult
PubMed: 35618980
DOI: 10.1007/s10840-022-01252-7