HRCR Rare Diseases Article Collection
- The population of individuals with adult congenital heart disease is expanding as advances in surgical and medical management allow patients to live into adulthood. Consequently, these patients are developing other cardiovascular diseases, such as arrhythmias and heart failure, later in life. Procedures involving congenital anatomic variations are becoming more commonplace, and operators must become familiar with them. One such congenital abnormality, dextrocardia, involves the reversal of the base–apex axis of the heart caudally and to the right.
- Entirely subcutaneous implantable cardioverter-defibrillators (S-ICD™ system; Boston Scientific Corp, Marlborough, MA) provide effective defibrillation and reduce the risk of infection or lead-related problems.1–3 S-ICD systems may be a valid alternative to transvenous implantable cardioverter-defibrillator (ICD) in patients in whom bradycardia pacing or cardiac resynchronization therapy (CRT) is not required.4,5 The Micra™ AV Transcatheter Pacing System (Medtronic Inc, Minneapolis, MN) is a recently approved leadless pacemaker enabling atrioventricular (AV) synchronized pacing, which may, in theory, compensate the S-ICD’s inability to pace.
- Cardiac contractility modulation (CCM) may be used as an adjunct for the treatment of medically refractory class III chronic systolic congestive heart failure (CHF) with ejection fraction (EF) 25%–45% not indicated for biventricular pacing.1–3 CCM treats CHF through effecting improvement in myocardial cellular calcium handling and with reversal of adverse gene dysregulations.4,5 Enhanced phosphorylation of the giant myocardial protein titin also occurs with CCM, which can improve myocardial relaxation.
- The current revised task force criteria for diagnosis of arrhythmogenic cardiomyopathy (ACM) includes only morphological criteria for right ventricle with no consideration for left ventricle criteria.1 However, accumulating evidence suggests increasing left ventricle involvement in ACM. One such phenotype is Carvajal syndrome, which is a primary left ventricle ACM that is inherited as a familial cardiocutaneous syndrome consisting of woolly hair, palmoplantar keratoderma, and cardiac involvement.