Arrhythmogenic cardiomyopathy (ACM) is also called arrhythmogenic right ventricular cardiomyopathy (ARVC) or arrhythmogenic right ventricular dysplasia (ARVD). ACM is a type of non-ischemic cardiomyopathy that primarily involves the right ventricle, though there have been cases of the left ventricular disease. Early clinical manifestations of arrhythmogenic cardiomyopathy include intermittent & sustained palpitations, cardiac arrest and arrhythmic syncope. The development of heart failure associated symptoms, including chest pain, elevated serum troponin levels and ST-segment changes on the electrocardiogram (ECG), typically occurs later in the disease process. The morbidity of ACM is estimated to be between 0.02% and 0.1%. ACM usually occurs in people between the ages of 30 and 40 and rarely affects children and adolescents. Arrhythmogenic cardiomyopathy is an inherited disease characterized by the risk of myocardial dysfunction, life-threatening arrhythmias and fibrofatty replacement of myocardial tissue. The mutations in genes that encode desmosomes and the adhesive junctions that connect cardiomyocytes, are the primary cause of ACM.
DES encodes a muscle-specific class III intermediate filament. The DES homopolymers form a stable intracytoplasmic filamentous network that connects the myofibrils to each other and the plasma membrane. DES mutations are associated with desmin-related myopathy, familial cardiac & skeletal myopathy (CSM) and distal myopathy. Potassium ion channels are necessary for many cellular functions and show a high degree of diversity, differing in their electrophysiologic and pharmacologic properties. These genes include KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1. KCNE1 encodes a transmembrane protein which is associated with the protein encoded by KVLQT1 to form the delayed rectifier potassium channel. Mutations in KCNE1 are associated with a long-QT syndrome. KCNE2 is expressed in heart and muscle, and the mutations in KCNE2 are associated with cardiac arrhythmia. Mutations in KCNJ2 are related to cardiac arrhythmias and other kinds of diseases.
Our company provides a custom comprehensive cardiomyopathy panel containing optimized genes that are related to arrhythmogenic cardiomyopathy. You can select the genes only you need to customize your panel. Illumina MiSeq system is provided to efficiently discover, validate and screen genetic variants among the arrhythmogenic cardiomyopathy-related genes.
For more information about the Custom Arrhythmogenic Cardiomyopathy Panel or need other amplification requirements, please contact us.