Luisa Mestroni, MD

My many clinical interests include Clinical Cardiology, Heart Failure, and Inherited Cardiomyopathies (DCM, HCM, ARVC, LVNC, rare cardiomyopathies).

My research is dedicated to the study of genetics of heart muscle diseases, called cardiomyopathies. Since 1991, we have collected clinical information and DNA of over 2000 subjects from families with cardiomyopathies, initially in Italy and subsequently in the USA. Data and materials are collected in the International Familial Registry which has been supported by various grants of the NIH, AHA, UN, MDA. Through our researches on the molecular genetics of cardiomyopathies and analysis on genotype-phenotype correlations, several genes and pathways causing heart disease have been investigated in my laboratory, from cytoskeletal and sarcomeric genes, to ion channels. We are interested in the genes causing dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, left ventricular noncompaction and hypertrophic cardiomyopaty. Among the most important accomplishments are the discovery of dilated cardiomyopathy genes, such as lamin A/C (LMNA) associated with variable muscular involvement, FLNC, SCN5A and the recent discovery of the titin gene (TTN), the largest gene of the human genome, as a cause of arrhythmogenic right ventricular cardiomyopathy. We are also interested in genotype-phenotype association studies, which are critical to transfer bench-to-bedside knowledge. Our ongoing research has shown that specific genes may have a different prognosis and may suggest different management strategies. Functional studies of mutant cardiomyopathy genes are also performed to evaluate the consequences of the defective proteins on cellular models, and to pave the way to drug discovery. Concerning novel therapies, we have ongoing trials for inherited cardiomyopathies. We are currently exploring applications of nanotechnology and bioengineering to the study of heart function and cardiomyopathies.