ACTA2 Gene ACTA2– The ACTA2 gene provides instructions for making a protein called smooth muscle alpha (α)-2 actin, which is […]
COL3A1 Gene The COL3A1 gene provides instructions for making type III collagen. Collagens are a family of proteins that strengthen […]
TGFBR2 The TGFBR2 gene provides instructions for making a protein called transforming growth factor-beta (TGF-β) receptor type 2. The transforming […]
TGFBR1 Gene The TGFBR1 gene provides instructions for making a protein called transforming growth factor-beta (TGF-β) receptor type 1. The […]
FBN1– Mutations in the fibrillin-1 gene (FBN1) account for ~90% of autosomal dominant cases of MFS. Mutations within the FBN1 […]
Familial Hypercholesterolemia Familial hypercholesterolemia (FH) is a genetic condition which refers to individuals with very significantly elevated low-density lipoprotein (LDL) […]
General Aortopathy The aorta, the body’s main artery, supplies oxygenated blood to the whole body. The aorta runs from the […]
Arrhythmia Explanation General Arrhythmias: An arrhythmia is a problem with the rate or rhythm of your heartbeat. Tachycardia is when […]
General Cardiomyopathy: Cardiomyopathy is a disease related to heart muscle abnormalities in which the heart muscle becomes weakened, stretched, or […]
Methodology and Limitations of Cardiac Genetic Testing This test is performed using next generation sequencing methodology for genetic profiling of […]
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