Maurizio Pieroni1, Michele Ciabatti2, Elisa Saletti2, Valentina Tavanti3, Pasquale Santangeli4, Lucia Martinese2, Francesco Liistro2, Iacopo Olivotto5, Leonardo Bolognese2. 1. Cardiovascular Department, San Donato Hospital, Via Pietro Nenni 22, 52100, Arezzo, Italy. mauriziopieroni@yahoo.com. 2. Cardiovascular Department, San Donato Hospital, Via Pietro Nenni 22, 52100, Arezzo, Italy. 3. Radiology Department, San Donato Hospital, Arezzo, Italy. 4. Cardiovascular Division, Hospital of the University of Pennsylvania, Philadelphia, PA, USA. 5. Department of Experimental and Clinical Medicine, Cardiomyopathy Unit, University of Florence, Florence, Italy.
Abstract
PURPOSE OF REVIEW: We describe the most common phenocopies of hypertrophic cardiomyopathy, their pathogenesis, and clinical presentation highlighting similarities and differences. We also suggest a step-by-step diagnostic work-up that can guide in differential diagnosis and management. RECENT FINDINGS: In the last years, a wider application of genetic testing and the advances in cardiac imaging have significantly changed the diagnostic approach to HCM phenocopies. Different prognosis and management, with an increasing availability of disease-specific therapies, make differential diagnosis mandatory. The HCM phenotype can be the cardiac manifestation of different inherited and acquired disorders presenting different etiology, prognosis, and treatment. Differential diagnosis requires a cardiomyopathic mindset allowing to recognize red flags throughout the diagnostic work-up starting from clinical and family history and ending with advanced imaging and genetic testing. Different prognosis and management, with an increasing availability of disease-specific therapies make differential diagnosis mandatory.
PURPOSE OF REVIEW: We describe the most common phenocopies of hypertrophic cardiomyopathy, their pathogenesis, and clinical presentation highlighting similarities and differences. We also suggest a step-by-step diagnostic work-up that can guide in differential diagnosis and management. RECENT FINDINGS: In the last years, a wider application of genetic testing and the advances in cardiac imaging have significantly changed the diagnostic approach to HCM phenocopies. Different prognosis and management, with an increasing availability of disease-specific therapies, make differential diagnosis mandatory. The HCM phenotype can be the cardiac manifestation of different inherited and acquired disorders presenting different etiology, prognosis, and treatment. Differential diagnosis requires a cardiomyopathic mindset allowing to recognize red flags throughout the diagnostic work-up starting from clinical and family history and ending with advanced imaging and genetic testing. Different prognosis and management, with an increasing availability of disease-specific therapies make differential diagnosis mandatory.
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