A Case Report of a Rare Heterozygous Variant in the Gene Associated With Hypertrophic Cardiomyopathy and Complete Atrioventricular Block.

Hypertrophic cardiomyopathy (HCM) is the primary cause of sudden cardiac death in children and adolescents. Patients with HCM frequently have ventricular tachycardia and ventricular fibrillation, although complete atrioventricular block (CAVB) is very rare. We report a case of HCM with CAVB in an 8-year-old girl who underwent transvenous implantable cardioverter-defibrillator placement after resuscitation.

Back somersault-induced atrioventricular nodal reentrant tachycardia - A case of a 15-year-old promising gymnast.

A male 15-year-old promising gymnast suffered palpitations, which emerged only after landing a round-off back somersault. The performance induced an attack of regular narrow QRS complex tachycardia that was highly reproducible. Not a single element of the performance, but a whole sequence of round-off back somersault was required to induce the attack.

Acute Myocardial Infarction in a 17-year-old High-school Girl.

We report an unusual case of acute myocardial infarction in a high school girl. The patient was 17 years of age and had multiple coronary risk factors, including marked obesity with a body mass index (BMI) of 42.7 kg/m, dyslipidemia and glucose intolerance.

Insight into specific pro-arrhythmic triggers in Brugada and early repolarization syndromes: results of long-term follow-up.

The pro-arrhythmic triggers in Brugada and early repolarization syndromes (BrS, ERS) have not been analyzed systematically except for case reports. We clinically investigated the circumstances which precede/predispose to arrhythmic events in these syndromes during long-term follow-up. A detailed history from the patients/witnesses was taken to investigate the antecedent events in the last few hours that preceded syncope/ventricular fibrillation (VF); medical records, ECG and blood test from the emergency room (ER) were reviewed.

Late Gadolinium Enhancement on Cardiac MRI Correlates with QT Dynamicity Represented by QT/RR Relationship in Patients with Ventricular Arrhythmias.

Background: The distribution of late gadolinium enhancement (LGE) on the cardiac MRI (CMR) indicates myocardial fibrosis and provides information of possible reentry substrates. QT dynamicity reflecting repolarization abnormalities has gained attention as a potential prognostic predictive factor.

Objective: To clarify the correlation between the LGE distribution on CMR and QT dynamicity represented by the QT/RR relationship.

Late gadolinium enhancement of cardiac magnetic resonance imaging indicates abnormalities of time-domain T-wave alternans in hypertrophic cardiomyopathy with ventricular tachycardia.

Background: The presence of myocardial scar detected by late gadolinium enhancement (LGE) on cardiac magnetic resonance (CMR) imaging has been described as a good independent predictor of mortality in patients with hypertrophic cardiomyopathy (HCM). Time-domain T-wave alternans (TWA) is also a potential predictor of cardiac mortality in patients with left ventricular dysfunction.

Objective: The purpose of this study was to elucidate the relationship between LGE distribution and TWA in patients with HCM.

Late gadolinium enhancement on cardiac magnetic resonance represents the depolarizing and repolarizing electrically damaged foci causing malignant ventricular arrhythmia in hypertrophic cardiomyopathy.

Background: The presence of a myocardial scar detected by late gadolinium enhancement (LGE) on cardiac magnetic resonance (CMR) has been described as a predictor of all-cause mortality in hypertrophic cardiomyopathy (HCM). However, the detailed spatial relationship between LGE site and electrical abnormality is unclear in high-risk HCM with malignant arrhythmia.

Objective: The purpose of this study was to elucidate the detailed relationship between the site on CMR imaging and the electrically damaged site, a potential origin of ventricular arrhythmias in patients with HCM.

Repolarization characteristics in early repolarization and brugada syndromes: insight into an overlapping mechanism of lethal arrhythmias.

Introduction: We reported impaired QT-rate dependence in early repolarization syndrome (ERS); however, contemporary data have shown peak incidence of sudden cardiac death (SCD) in ERS and Brugada syndrome (BrS) at mid-night and early morning. Taken together, we analyzed the nocturnal QT-rate dependence in both syndromes.

Methods And Results: A total of 172 subjects were enrolled: 11 ERS, 11 BrS patients, 50 subjects with an uneventful ER pattern (ERP), and 100 non-J-wave control subjects.

Cerebral microbleeds and asymptomatic cerebral infarctions in patients with atrial fibrillation.

Background: Atrial fibrillation (AF) is a cardiac arrhythmia that does not infrequently induce ischemic strokes; however, little research has been reported on focal cerebral microangiopathic lesions in patients with AF. Recently cerebral microbleeds (CMBs) have been noticed for their potential implication in cerebral small vessel disease. Therefore, we had 2 goals in the present study: (1) to compare the prevalence of CMBs in patients with AF with that in patients without AF, and (2) to prove that CMBs could be a clinical predictive factor for the development of future cerebral microangiopathy in patients with AF without a history of symptomatic cerebral infarction in a prospective manner.

Three cases of corticosteroid therapy triggering ventricular fibrillation in J-wave syndromes.

We describe three cases of J-wave syndrome in which ventricular fibrillation (VF) was probably induced by corticosteroid therapy. The patients involved were being treated with prednisolone for concomitant bronchial asthma. One of the three patients had only one episode of VF during her long follow-up period (14 years).

Impaired ventricular repolarization dynamics in patients with early repolarization syndrome.

Introduction: Almost all current investigations on early repolarization syndrome (ERS) have focused on the J-wave characteristics and ST-segment configuration; however, few have reported on ventricular repolarization indexes in ERS.

Methods And Results: A total of 145 subjects were enrolled: 10 ERS patients, 45 uneventful ER pattern (ERP) subjects, and 90 healthy controls without J waves or ST-segment elevation. Ambulatory ECG-derived parameters (QT, QTc(B), QTc(F), T peak-Tend(Tpe), and QT/RR slope) were measured and statistically compared.

Site of transmural late gadolinium enhancement on the cardiac MRI coincides with the ECG leads exhibiting terminal QRS distortion in patients with ST-elevation myocardial infarctions.

Large infarcts are associated with a terminal QRS-distortion in ST-elevation myocardial infarction (STEMI) patients. Late gadolinium enhancement (LGE) on the cardiac MRI (CMR) can depict an infarct distribution. However, less is known about the relationship between the LGE findings and QRS-distortion on admission, including the best ECG-lead location to reveal the QRS-distortion (DIS-lead) in STEMI patients.

Enhanced transmural dispersion of repolarization in patients with J wave syndromes.

Introduction: Recently, great attention has been paid to the risk stratification of asymptomatic patients with an electrocardiographic early repolarization (ER) pattern. We investigated several repolarization parameters including the Tpeak-Tend interval and Tpeak-Tend/QT ratio in healthy individuals and patients with J wave syndrome who were aborted from sudden cardiac death.

Methods And Results: Ninety-two subjects were enrolled: 12 patients with ventricular fibrillation associated with J waves, 40 healthy subjects with an uneventful ER pattern and 40 healthy control subjects (C) without any evident J waves.

Clinical and genetic investigation of a Japanese family with cardiac fabry disease. Identification of a novel α-galactosidase A missense mutation (G195V).

Fabry disease is an X-linked lysosomal storage disorder caused by mutations of the α-galactosidase A gene (GLA), and the disease is a relatively prevalent cause of left ventricular hypertrophy mimicking idiopathic hypertrophic cardiomyopathy. We assessed clinically 5 patients of a three-generation family and also searched for GLA mutations in 10 family members. The proband had left ventricular hypertrophy with localized thinning in the basal posterior wall and late gadolinium enhancement (LGE) in the near-circumferential wall in cardiovascular magnetic resonance images and her sister had vasospastic angina pectoris without organic stenosis of the coronary arteries.

Recovery of advanced atrioventricular block by cilostazol.

We describe a case of advanced atrioventricular (AV) block, in which treatment with cilostazol was effective in recovering the AV conduction. The patient was referred to our hospital for close examination of the advanced AV block and permanent pacemaker implantation. Although the patient had experienced third-degree AV block with occasional AV synchrony for more than two days, the AV conduction completely recovered after treatment with oral cilostazol at 200 mg/day.

Peroxisomes are involved in biotin biosynthesis in Aspergillus and Arabidopsis.

Among the eukaryotes only plants and a number of fungi are able to synthesize biotin. Although initial events leading to the biosynthesis of biotin remain largely unknown, the final steps are known to occur in the mitochondria. Here we deleted the Aopex5 and Aopex7 genes encoding the receptors for peroxisomal targeting signals PTS1 and PTS2, respectively, in the filamentous fungus Aspergillus oryzae.

A case of idiopathic systemic capillary leak syndrome with high serum levels of G-CSF on exacerbation.

Systemic capillary leak syndrome (SCLS) is a life-threatening disorder which presents with periodic episodes of hypovolemic shock, due to plasma leakage to the extra-vascular space reflected by accompanying hypoalbuminemia, hemoconcentration and edema often with associated monoclonal gammopathy. We describe a 28-year-old woman with SCLS who required aggressive fluid resuscitation and was successfully treated with corticosteroid, terbutaline, and theophylline. At exacerbation, the levels of serum granulocyte colony-stimulating factor (G-CSF) were increased.

Spontaneous resolution of an accidental total coronary occlusion.

In December 2007, a woman was involved in a traffic accident. At first, her vital signs were normal, but electrocardiogram showed ST-segment elevation in the inferior leads. She was diagnosed as a blunt chest trauma-induced myocardial infarction.

Possible contribution of ischemia of the conus branch to induction or augmentation of Brugada type electrocardiographic changes in patients with coronary artery disease.

Recent evidence suggests an association between vasospastic angina and Brugada syndrome. Here we present two cases of coronary artery disease who presented with ECG abnormalities which might have been provoked or enhanced by ischemia of the conus branch of the right coronary artery. The 12-lead ECGs demonstrated normal sinus rhythm in these two cases.

A case of Brugada syndrome in which diurnal ECG changes were associated with circadian rhythms of sex hormones.

We describe a thought-provoking case of Brugada syndrome in which a relationship between the diurnal electrocardiogram (ECG) changes and sex hormone levels was observed. A 36-year-old man who experienced cardiac arrest was referred to our hospital. He had a family history of sudden cardiac death.

Brugada syndrome case: difficult differentiation between a concealed form and tricyclic antidepressant-induced Brugada sign.

We describe a case of Brugada syndrome, in which recurrent syncope with convulsive seizures was induced after antidepressant treatment. The patient had been treated with five kinds of psychotropic drugs. The twelve-lead ECG after the syncope exhibited an RSR'-pattern in the precordial leads, however, a coved type ST-segment elevation was induced by a pilsicainide test.

Blood pressure control and the reduction of left atrial overload is essential for controlling atrial fibrillation.

The purpose of this study was to investigate whether the ideal control of atrial fibrillation (AF) associated with hypertensive patients depends on the usage of renin-angiotensin system (RAS) inhibitors or whether it occurs regardless of the kind of antihypertensive agents used. The control of AF was compared in 112 outpatients between 1) those with or without the administration of RAS inhibitors, and 2) those with an ideal or poor control of the blood pressure (BP) regardless of the kind of antihypertensive therapy used. The therapies with or without RAS inhibitors did not yield any significant difference in the AF control states, even though RAS inhibitors had been administered to the patient group with a high proportion of organic heart disease.

Brugada syndrome whose ST-segment changes were enhanced by antihistamines and antiallergenic drugs.

We describe a case of Brugada syndrome, in which a coved type ST-segment elevation was enhanced by antihistamines and antiallergenic drugs. The patient had been treated with four kinds of antihistamines and antiallergenic drugs. The twelve-lead ECG exhibited a coved type ST-segment elevation in leads V(1) and V(2), and their enhancement was induced by pilsicainide.