2008 Awarded Grant

George Porter, MD

Calcium Channel Disruption: A New Model of Non-Compaction Cardiomyopathy
Yale University, New Haven, CT
2008 to 2010 Amount Awarded (CCF/AHA Joint Research Grant) – $198,000

Non-compaction cardiomyopathy accounts for up to 13% of all clinically recognized childhood cardiomyopathies. The clinical spectrum of this disease is quite broad, with some patients presenting with heart failure while others never develop symptoms. This suggests that non-compaction is the result of an arrest of heart muscle development, and that the wide range of presentations is due to varying degrees of this disruption. While it is known that certain genetic mutations give rise to non-compaction, the mechanism by which non-compaction cardiomyopathy occurs remain unclear. In past studies, it has been found that deleting the major calcium channel in the heart to disrupt normal calcium levels causes non-compaction cardiomyopathy in the embryo. It is believed that abnormal calcium channel function leads to abnormal ventricular myocardial organization, leading to non-compaction. Using a mouse model, this study will first characterize when and how non-compaction develops and then study the mechanism of normal myocardial development and determine how abnormalities in this process can lead to non-compaction cardiomyopathy. These results may ultimately lead to clinical studies into the origins, diagnosis, and treatment of non-compaction cardiomyopathy. It may also further and guide genetic testing, risk assessment, and reproductive counseling for patients with this form of cardiomyopathy.

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