HRCR Rare Diseases Article Collection
- Short QT syndrome (SQTS) is a very rare channelopathy accompanied by familial clustering and sudden cardiac death.1 It has an estimated prevalence ranging from 0.02% up to 2% in the adult population, but only 0.05% among pediatric patients.2–6 To date, 9 mutations in 6 different genes have been identified, including KCNH2, KCNQ1, KCNJ1, CACNA1C, CACNB2, and CACNA2D1. In pediatric patients, SQTS is characterized by shortening of the corrected QT interval (QTcB <316 ms, J-Tpeak cB <181 ms, and the presence of early repolarization) on the surface electrocardiogram (ECG).
- Catheter ablation is a commonly undertaken and highly effective treatment for symptomatic right ventricular outflow tract (RVOT) ventricular ectopy / ventricular tachycardia (VT).1 Despite the high chance of cure with ablation, caution is required to avoid collateral injury to coronary arteries in certain well-described locations. Anomalous coronary arteries are rare2 and may have an unfamiliar path involving the outflow tracts, posing a significantly increased risk with ablation. The approach to outflow tract ablation in a patient with an anomalous coronary artery has not been previously reported.
- Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmia syndrome characterized by polymorphic ventricular tachycardia, usually provoked by emotional stress or exercise, in the absence of any structural cardiac abnormality, and in the presence of often normal resting electrocardiogram (ECG).1 It is a highly lethal disease with an overall mortality of 30%–40% if left untreated.2 Studies have shown that almost 35% of affected individuals become symptomatic before the age of 10 and 75% before the age of 20 years.
- Painful left bundle branch block (LBBB) syndrome causes intermittent or chronic chest pain and/or shortness of breath in the absence of myocardial ischemia.1 Given its low prevalence and association with coronary artery disease, it is frequently not recognized, making its true prevalence unknown. The mechanistic nature of the associated chest pain has not been completely elucidated but is thought to be related to ventricular dyssynchrony2 and interoceptive hypersensitivity.3 Treatment options include the use of beta-blockers to reduce heart rate and cardiac pacing therapy aimed at reestablishing normal ventricular activation, through biventricular or His bundle pacing (HBP).
- Catheter ablation is a well-established therapeutic option for the treatment of atrial fibrillation (AF).1,2 Although nowadays performed on a routine basis, catheter ablation of atrial fibrillation (AFCA) is associated with a non-negligible complication rate of up to 16% with significant discrepancies in incidence and type, with vascular access site complications being the most common (groin hematoma, femoral arterial pseudoaneurysms, and femoral arteriovenous fistula).1–4 We report a case of a 75-year-old White male patient with right groin lymphorrhea as an access site–related complication after second catheter ablation of recurrent atrial fibrillation.
- Mustard and Senning operations are atrial switch techniques for dextro-transposition of the great arteries (d-TGA) that have been mainly performed during a period from the 1960s to the mid-1980s.
- Atrioventricular nodal reentrant tachycardia (AVNRT) is a common paroxysmal supraventricular tachycardia (SVT) featuring repetitive salvos with spontaneous termination. Few reports exist demonstrating incessant AVNRT with chronically uncontrolled ventricular rates and tachycardia-induced cardiomyopathy (TIC).1,2 Persistent cases of incessant AVNRT resulting in TIC and intracavitary thrombus are exceedingly rare.2 We report a case of incessant slow/fast AVNRT associated with TIC and catastrophic embolization of left ventricular (LV) thrombus treated with acute radiofrequency slow pathway modification.
- Chagas disease is a parasitic zoonosis that constitutes a severe public health problem and is endemic in 21 Latin American countries.1 It is estimated that between 6 and 8 million people are infected with Trypanosoma cruzi (T cruzi), with an additional 65 million at risk of acquiring the disease by vector-borne transmission, blood or congenital transmission, or food-borne transmission.2,3 Chagas disease has an acute, indeterminate, and chronic phase. If untreated, the acute phase may transition to an indeterminate phase characterized by seropositivity for T cruzi in the absence of clinical symptoms.
- Cardioneuroablation (CNA) has been proposed as an alternative treatment for patients with refractory vasovagal syncope (VVS), functional atrioventricular block (AVB), or functional bradyarrhythmia instead of classical treatment or pacemaker.1 Vagal denervation is achieved by endocardial catheter ablation targeting atrial fibrillation nests (AFN)2 and ganglionic plexus (GP)-related areas. We describe a clinical case of cardioinhibitory carotid sinus syndrome (CSS) treated with CNA, where partial vagal denervation was achieved over sinus node.