HRCR Rare Diseases Article Collection
- Cor triatriatum sinister (CTS) accounts for <0.1% of all congenital heart diseases. It is a condition in which the fibromuscular membrane divides the left atrium (LA) into 2 chambers.1 The superior and posterior chambers receive the pulmonary veins, and the inferior and anterior chambers are connected to the left atrial appendage and mitral orifice.2 Pathophysiologically, CTS is similar to mitral stenosis,3 and the symptoms are correlated with pulmonary venous congestion and pressure loading at the right side of the heart.
- Arrhythmias are one of the most common causes of death in the late period post Fontan operation1 and are associated with a 3.5% incidence of ventricular tachycardia (VT).2 The extracardiac Fontan (EC-Fontan) has recently become the most commonly used approach in the Fontan operation. In such patients, catheter ablation (CA) is difficult to perform because the venous access to the heart is limited. A transcaval cardiac puncture (TCP) technique for gaining access to the heart chamber has previously been suggested for EC-Fontan patients.
- Fabry disease (FD) is an X-linked lysosomal storage disorder due to mutations in the GLA gene leading to deficiency of lysosomal α-galactosidase A (α-Gal A). Classic FD causes multiorgan failure, whereas the later-onset phenotype is characterized by predominantly cardiac manifestations. Ventricular arrhythmias are among the complications.1,2
- Brugada syndrome, traditionally described as a channelopathy affecting transmembrane sodium current, has been recognized as a structural disease affecting the epicardial right ventricular outflow tract (RVOT).1–3 This observation has been the basis for successful arrhythmic substrate ablation in these patients, with resolution of the Brugada pattern in the anterior precordial leads reported as a reliable procedural endpoint.4,5 However, the typical precordial electrocardiogram (ECG) pattern is obscured in patients with concomitant left bundle branch block (LBBB),6 making this a challenging observation in such patients.