Congenital short QT syndrome (SQTS) is a rare inherited channelopathy without structural heart disease. It is an autosomal dominant primary electrical disorder with a low degree of penetrance. It has a characteristic clinical-electrocardiographic-electrophysiological phenotype consisting of irregular palpitations due to the frequent episodes of paroxysmal atrial fibrillation, dizziness and/or sudden ...

J-wave syndromes have been associated with increased risk of ventricular fibrillation and sudden cardiac death. Previous studies have identified the KCNJ8-S422L variant in heterozygous form in individuals with J-wave syndromes. Its absence in over 1500 controls, coupled with in vitro analysis, have led to the conclusion that S422L is pathogenic. ...

Timothy syndrome, long QT syndrome type 8, is highly malignant with ventricular tachyarrhythmia. A 30-month-old boy had sudden cardiac arrest during anesthesia induction before plastic surgery for bilateral cutaneous syndactyly. After successful resuscitation, prolonged QT interval (QTc, 0.58-0.60 sec) and T-wave alternans were found in his electrocardiogram. Starting β-blocker to ...

Early repolarization (ER) observed in the inferior and/or lateral leads of a standard 12-lead electrocardiogram (ECG) has been shown to be more common in subjects resuscitated from otherwise unexplained ventricular fibrillation compared to matched controls (=ER syndrome). ER in the inferior and/or lateral leads has also been shown to increase ...

Aneurysms of one of the aortic sinuses of Valsalva are rare congenital or acquired lesions. Here we present the case of an adolescent with Down syndrome with ruptured aneurysm of the right coronary sinus into the right atrium. All sinuses of Valsalva were normal during cardiological screening owing to Down ...

Brugada syndrome (BrS) is associated with increased risk of ventricular arrhythmias and sudden death. Some drugs can trigger the electrocardiographic and arrhythmic manifestations of this syndrome. Cold medicines for symptom relief are sold without prescription in Brazil and most contain antihistamines and adrenergic agonists. We report a case of BrS ...

Takotsubo cardiomyopathy (TTC) is a recently recognized clinical syndrome characterized by transient ventricular dysfunction in the absence of obstructive coronary artery disease. TTC primarily affects postmenopausal women; TTC in children and adolescents is only rarely reported. Furthermore, simultaneous occurrence of Takotsubo cardiomyopathy and primary electrical diseases has been previously reported ...

As a clinical entity the Brugada syndrome has existed since 1992 and has been associated with a high risk of sudden cardiac death predominately in younger males. Patients can present with symptoms (ie syncope, palpitations, aborted sudden cardiac death) and asymptomatically. Its three characteristic electrocardiographic patterns can occur both spontaneously ...

Polysplenia syndrome is classified as one of the situs ambiguous or heterotaxy syndromes and is classically termed left isomerism or bilateral left-sidedness. However, polysplenia is a controversial and complex entity with no fixed pathognomonic features but rather a broad spectrum of abnormalities. In many published case series, polysplenia was neither ...

Sudden cardiac death (SCD) can be the first clinical manifestation of Wolff-Parkinson-White (WPW) syndrome. Catheter ablation of accessory pathways is now a safe and effective procedure, and is widely recommended in patients with WPW syndrome. However, management of the asymptomatic WPW patient remains controversial. Recent studies have readdressed the issue ...

Brugada syndrome is an inherited disease associated with an increased risk of lethal ventricular arrhythmias. Such arrhythmias stem from innate disruptions in cardiac electrophysiology. Typically, such arrhythmias occur in the third or fourth decade of life. However, Brugada syndrome may also affect geriatric patients. In this paper, we focus on ...

To date, research on the human ether-a-go-go related gene (hERG) has focused on this potassium channel's role in cardiac repolarization and Long QT Syndrome (LQTS). However, growing evidence implicates hERG in a diversity of physiologic and pathological processes. Here we discuss these other functions of hERG, particularly their impact on ...

A 67-year-old male patient was admitted with an abrupt sudden cardiac death. He represented with an extreme electrical storm of 30 times of ventricular fibrillation (VF) episodes on one day. External shocks were performed to terminate VF. Transient J-wave in the inferior-lateral leads and Brugada electrocardiography pattern on the right ...

Electrophysiological abnormalities of the QT interval of the standard electrocardiogram are not uncommon. Congenital long QT syndrome is due to mutations of several possible genes (genotype) that result in prolongation of the corrected QT interval (phenotype). Abnormalities of the QT interval can be acquired and are often drug-induced. Torsades de ...

Long QT syndrome is one of the most common cardiac ion channel diseases, but its morbidity and mortality rate can be lessened with an early diagnosis and proper treatment. This cardiac ventricular repolarization abnormality is characterized by a prolonged QT interval and a propensity for ventricular tachycardia (VT) of the ...

A 23-year-old male with Duchenne muscular dystrophy (DMD) experienced self-limiting palpitations at age 19 years for the first time. Palpitations recurred not earlier than at age 23 years, and were attributed to narrow complex tachycardia, which could be terminated with adenosine. Since electrocardiography showed a delta-wave, Wolff-Parkinson-White (WPW) syndrome was ...

Most patients who present to a cardiologist with syncope have vasovagal (reflex) syncope. A busy syncope practice often also sees patients with postural tachycardia syndrome, often presenting with severe recurrent presyncope. Recognition of this syncope confounder might be difficult without adequate knowledge of their presentation, and this can adversely affect ...

Barth syndrome (BTHS) is an X-linked mitochondrial defect characterised by dilated cardiomyopathy, neutropaenia and 3-methylglutaconic aciduria (3-MGCA). We report on two affected brothers with c.646G > A (p.G216R) TAZ gene mutations. The pathogenicity of the mutation, as indicated by the structure-based functional analyses, was further confirmed by abnormal monolysocardiolipin/cardiolipin ratio in dry ...

Brugada syndrome (BrS), an inherited arrhythmogenic disease first described in 1992, is characterized by ST segment elevations on the electrocardiogram in the right precordium and by a high occurrence of arrhythmias including the life-threatening ventricular tachycardia/fibrillation. Knowledge of the underlying mechanisms of formation of arrhythmogenic substrate in BrS is essential, ...

Holt-Oram syndrome is a rare inherited disorder that causes abnormalities of the hands, arms, and the heart. Most commonly, there are defects in the carpal bones of the wrist and in the bones of the thumb along with cardiac defects such as atrial or ventricular septal defects. We report a ...

Neurocardiogenic syncope is known to be associated with autonomic nervous system dysfunction, although the mechanism has not been entirely elucidated. In this study, we sought to highlight the pathogenic role of the autonomic nervous system in neurocardiogenic syncope and to review the associated co-morbidities known to have a dysautonomic basis. ...

Patients with long QT syndrome can sometimes present with a ventricular fibrillation (VF) storm. Catheter ablation of culprit premature ventricular complexes responsible for the triggering of the VF episodes may be required in rare cases of electrical storm that do not respond to conventional measures, and this can be life-saving. ...

We describe a unique presentation of arrhythmogenic right ventricular dysplasia (ARVD) in a 14-year-old Caucasian male who was additionally diagnosed with long QT syndrome (LQTS). Genetic testing eventually confirmed the diagnosis of both ARVD and LQTS, which combined, to our knowledge, has not been reported in the literature.

Brugada syndrome is associated with sudden cardiac death in patients with a structurally normal heart. The electrocardiogram (ECG) pattern of Brugada syndrome is characterised by complete or incomplete right bundle branch block and ST-segment elevation in the right precordial leads. These ECG signs may not always be apparent but can ...

We report a patient with acromesomelic dysplasia, cardiac and neurologic abnormalities. This may be a new syndrome or cardiac and neurologic features may be undescribed rare features of acromesomelic dysplasia.

ABSTRACTA 51-year-old man presented with a 5-day history of progressive facial swelling, sensation of head fullness, increasing shortness of breath and paroxysmal nocturnal dyspnea. He denied chest pain, syncope or presyncope. Past medical history included mechanical aortic valve replacement 7 years prior and atrial fibrillation treated with warfarin. A clinical ...

Andersen-Tawil syndrome (ATS), a rare autosomal dominant disorder, is characterized by periodic paralysis, dysmorphic features and cardiac arrhythmias. This syndrome is caused by mutations of KCNJ2 gene, which encodes inward rectifying potassium channel. Here, we report an 18-year-old girl who was presented with life-threatening cardiac arrhythmia and acute respiratory distress. ...

This report presents a 72-year-old woman with posterior cranial fossa neurovascular compression syndrome that included paroxysmal supraventricular tachycardia. The patient underwent surgical exploration of the posterior cranial fossa, and a gross left vertebral artery was identified as the offending vessel. The neurovascular conflicts were associated with the cranial nerves V, ...

Short QT syndrome is a recently recognized cause of cardiac rhythm disorders, including sudden cardiac death. Although the syndrome is rare, its potential lethality justifies routinely screening the electrocardiograms of patients with syncope or unexplained atrial or ventricular arrhythmias to look for this diagnosis. This review discusses recent advances in ...

"Takotsubo" cardiomyopathy (TTC) is a clinical disorder usually triggered by intense emotional and/or physical stress, characterized by reversible severe localized left ventricular wall dyskinesia, transient changes of ST segment, without significant coronary artery stenoses, that can mimic acute myocardial infarction. Although TTC is well known to have a good mid- ...

Silent sinus syndrome is a rare acquired condition that typically presents as enophthalmos and hypoglobus due to atelectasis of the maxillary sinus. The chronic negative pressure in the sinus slowly retracts the orbital floor, altering orbital anatomy and affecting the function of orbital contents. The authors present the first case ...

Channelopathies are diseases caused by dysfunctional ion channels, due to either genetic or acquired pathological factors. Inherited cardiac arrhythmic syndromes are among the most studied human disorders involving ion channels. Since seminal observations made in 1995, thousands of mutations have been found in many of the different genes that code ...

Wolff-Parkinson-White (WPW) syndrome is caused by preexcitation of the ventricular myocardium via an accessory pathway which increases the risk for paroxysmal supraventricular tachycardia. The condition is often sporadic and of unknown etiology in the majority of cases. Autosomal dominant inheritance and association with congenital heart defects or ventricular hypertrophy were ...

Inappropriate sinus tachycardia (IST) is a syndrome in which the sinus heart rate is inexplicably faster than expected and associated symptoms are present. The heart rate at rest, even in a supine position, can exceed 100 beats/min; minimal activity accelerates the rate rapidly and substantially. Patients with IST may require ...

Silent sinus syndrome is a rare clinical entity associated with progressive enophthalmos, collapse of the maxillary sinus, and hypoglobus. We report a case of bilateral silent sinus syndrome in a 29-year-old man. Representative radiographic and intraoperative images are presented. The purpose of this article is to illustrate a new presentation ...

Two decades ago, a series of 8 idiopathic ventricular fibrillation patients who each had an abnormal ECG (right bundle branch block with coved-type ECG), but otherwise had normal hearts were described by Brugada and Brugada. Since then, the clinical entity has become known as Brugada syndrome (BS). Shortly thereafter, mutations ...

ABSTRACT: Carotid sinus syndrome is a serious manifestation of head and neck malignancy. The purpose of this study was to clarify the presence of carotid sinus syndrome in a patient with cystadenolymphoma. To our knowledge carotid sinus syndrome secondary to cystadenolymphoma has not been reported to date. A 45-year-old woman ...

ABSTRACT: A 10-year-old girl presented to the emergency department of a regional hospital with 1 episode of generalized tonic-clonic seizures. Postictal monitoring followed by a 12-lead electrocardiogram showed fast atrial fibrillation with intermittent wide QRS regular tachycardia. Immediately following this, her rhythm changed to wide QRS irregular tachycardia without hemodynamic ...

Kocher-Debre-Semelaigne (KDS) syndrome is a rare form of hypothyroid myopathy, with associated hypertrophy of muscles. Although cardiac manifestations of hypothyroidism are well known, reports of cardiac involvement in KDS have only described the occurrence of pericardial effusion as an association. This report describes an adolescent male presenting with typical features ...

The Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare cause of persisting gastrointestinal bleeding. We are presenting a case which was associated with an atrial septal defect.

ABSTRACT: Sinus node dysfunction (SND) refers to a wide range of abnormalities involving sinus node and atrial impulse generation and propagation. SND occurs at any age and is commonly encountered in clinical practice. Clinicians must be able to accurately diagnose this syndrome, which can present from asymptomatic bradycardia to atrial ...

The generation of induced pluripotent stem cells (iPSC) from human somatic cells bears the possibility to generate patient-specific stem cell lines which can serve as a theoretically unlimited source of somatic cells carrying the genotype of the patients. Different types of the long-QT syndrome have been studied by analyzing the ...

Lutembacher syndrome involving the association of congenital atrial septal defect (ASD), usually of the ostium secundum variety, and mitral valve disease is a well-known entity. Its association with a coronary sinus, ASD, and a persistent left superior vena cava (LSVC) draining into the left atrium (LA) (Raghib syndrome) is rarely ...

Few tragedies compare to the sudden death of a family member. Sadly, this may represent the first sign of a familial vulnerability to such events. One common cause is an inherited cardiac arrhythmia syndrome. Sufferers are prone to premature sudden cardiac death due to altered ion channel function in the ...

Hypothermia and Early Repolarization Syndrome. Introduction: The early repolarization (ER) pattern on ECG was originally described in the context of hypothermia. Case Summary: We present the case of a 34-year-old male with cardiac arrest in the context of spontaneous hypothalamic mediated thermal dysregulation after intracranial hemorrhage. Ventricular fibrillation with a marked ...

The present study was designed to analyse the usefulness of a modified Calgary score system during differential diagnosis between cardiac syncope and postural orthostatic tachycardia syndrome-associated syncope through a large sample sized clinical investigation. The study included 213 children, including 101 boys and 112 girls, with cardiac syncope or postural ...

Objectives- Strain and strain rate imaging have been reported to detect cardiac dysfunction more accurately than conventional methods in adults with Marfan syndrome, but their utility has not been proven in younger patients. We sought to determine whether strain and strain rate imaging would allow early detection of cardiac dysfunction ...

Percutaneous catheter ablation is now a well-established, efficient and effective treatment strategy for recurrent, symptomatic atrial fibrillation (AF). Major complications though occur in up to 5.9% of procedures. New complications still continue to emerge. Delayed tamponade is only recently recognized as a major complication after ablation. We present a 68-year-old ...

We describe the case report of an 86-year-old Afro-Caribbean parkinsonian gentleman with intermittent Mobitz II heart block and syncope who received a DDD pacemaker. Due to Parkinson's syndrome, the patient rotated the atrial lead around the pacemaker, causing the famous "Twiddler's syndrome", a rare clinical issue which can easily be ...

We present a child case of heterotaxy syndrome (asplenia syndrome) after Fontan procedure that showed extreme prolongation of QT interval and torsade de pointes (TdP) after administration of sodium channel blockers for paroxysmal atrial tachycardia. Despite low serum concentration of the drugs, QT prolongation persisted and TdP attacks with unconsciousness ...