Heritable Cardiac Conduction and Myocardial Disease: From the Clinic to the Basic Science Laboratory and Back to the Clinic

作者：Sparks Elizabeth A; Boudoulas Konstantinos Dean; Raman Subha V; Sasaki Takeshi; Graber Harry L; Nelson Steven D; Seidman Christine E; Boudoulas Harisios^*

来源：Cardiology, 2011, 118(3): 179-186.

DOI：10.1159/000328638

• Heritable cardiomyopathy
• Conduction system disease
• Lamin A/C

A close collaboration between the physicians-scientists of the Division of Cardiology, The Ohio State University and the basic scientists of the Department of Genetics, Harvard Medical School was essential to define the multiple phenotypic expressions and the genetic abnormalities in the heritable conduction and myocardial disease in a family from central Ohio (Family OSU). The Family OSU presents evidence of sequential hierarchical progression through multiple cardiac phenotypes (sinus bradycardia, atrioventricular conduction defects requiring pacemaker, supraventricular arrhythmias including atrial fibrillation, heart failure, and sudden cardiac death) on a decade-to-decade basis. In this setting, each phenotype may be mistakenly considered as a specific diagnosis by physicians working without a pedigree or long-term follow-up. Genetic analysis, however, confirms lamin A/C mutation. The role of the physician-scientist and the basic scientist for the study of heritable disorders is equally important but different. Only the physician-scientist, however, who is in constant contact with the patient understands the complexity of the disease. The physician-scientist with an interest in a particular disease can guide the basic scientist to define molecular mechanisms of that disease and by extension learn important lessons for other diseases.

• 出版日期2011