The increase in whole exome and whole genome sequencing has significantly increased the number of rare variants that are associated with dilated cardiomyopathy [2]. A challenge in the field today is that many individuals without disease carry rare variants in their genome. Thus the task at hand is not in the sequencing but rather in the translation to define if the rare variants discovered are in fact pathophysiologic in nature. Secondly, evidence is accumulating that many patients with dilated cardiomyopathy may have many different mutations that contribute to or modify disease. [6]
Genetic Testing
Associated Conditions
A review of systems is also helpful in regards to connective tissue disease associated dilated cardiomyopathy. Some of the disease that can be associated with dilated cardiomyopathy are:
Cardiomyopathy: Gross excellent view of mitral valve from left atrium anterior leaflet appears to balloon a bit into the atrium
Cardiomyopathy: Gross excellent view of mitral and tricuspid valves from atria, appear normal anatomy.
Dilated Cardiomyopathy: Gross natural color close-up view of heart surgically removed for a transplantation shows aortic valve and anterior leaflet of mitral valve with cholesterol deposits endocardium of left ventricle is diffusely thickened
Cardiomyopathy: Gross external view of globular heart with patchy fibrosis seen through epicardium
Cardiomyopathy: Gross dilated left ventricle with marked endocardial thickening this is what has been called adult fibroelastosis
Dilated Cardiomyopathy: Gross good example huge dilated left ventricle
Dilated Cardiomyopathy: Gross dilated left ventricle with marked endocardial sclerosis (an excellent example)
