In search of diagnostic tests for the early detection of hereditary dilated cardiomyopathy in Panama

En Busca de Pruebas Diagnósticas para la Detección Temprana de Cardiomiopatía Dilatada Hereditaria en Panamá

Cardiovascular diseases have been one of the first causes of mortality and morbidity in the country for several years. Among these pathologies are dilated cardiomyopathy (DCM). This disease can be caused by various causes, including viral and parasitic infections. DCM is a severe condition that affects the myocardium and is characterized by reduced systolic function and dilatation of the left ventricle. This disease is the most important cause of cardiac failure and sudden death in patients. Today it is known that a high percentage of DCM that are reported worldwide as idiopathic, have a genetic background.

Dr. Jorge Motta

In Panama, genetic studies, proteomic or metabolomic associated with this disease are practically nil in the country. A pioneer of DCM's genetic-related research in Panama is Dr. Jorge Motta, who was the first to develop a scientific investigation aimed at determining the association between a family case of DCM identified in the country and Mutations in cardiovascular genes. This effort has joined a group of researchers from INDICASAT-AIP, including Dr. Armando Durant Archibold, and Jock Chichaco, who is currently a student in the doctoral program of INDICASAT-AIP and the Acharja Nargaryuna University (India). This research is focused on the precise determination of the causal mutation of DCM in this family under study, and at the same time to establish proteomic markers for this mutation, considering that the identification of molecular biomarkers that allow the Early diagnosis, and follow-up of patients with mutation is essential in individuals at risk for DCM due to hereditary causes.

Dr. Armando Durant Archibold
Dr. Jock Chichaco

With the selfless and committed support of patients, and relatives of patients suffering from this disease, began a few years ago to walk in the search for these biomarkers. In this effort, two prestigious international research centers have been incorporated, such as the Georgia Institute of Technology (Georgia Tech) and the Institute of Molecular Medicine of the University of Texas-Houston Medical Center, both from the United States. To develop this research project has received financial support from the national secretary of Science, Technology and Innovation (SENACYT), the national system of researchers of Panama (SNI), and Georgia Tech University.

At present, the mutation responsible for this deadly disease in the family described by Dr. Motta has been successfully established and other biomolecules with potential as biomarkers of the disease have been identified. These results are due to be published soon. The future establishment in the country of tests, which allow the early diagnosis of hereditary DCM in the country, constitutes one of the maximum aspirations expected to be derived from this research. The progress achieved so far has been important, but much is still the way forward; But with enthusiasm it continues to mark the way to improve the quality of life of Panamanians affected, or at risk of suffering, DCM.

Dr. Armando Durant Archibold

Dr. Jock Chichaco Kuruc