Diagnostic Clues for the Diagnosis of Nonsarcomeric Hypertrophic Cardiomyopathy (Phenocopies): Amyloidosis, Fabry Disease, and Mitochondrial Disease

Giuseppe Limongelli, Daniele Masarone, Marina Verrengia, Rita Gravino, Gemma Salerno, Silvia Castelletti, Marta Rubino, Tommaso Marrazzo, Antonio Pisani, Franco Cecchi, Perry Mark Elliott, Giuseppe Pacileo

Research output: Contribution to journalArticle

Abstract

Hypertrophic cardiomyopathy (HCM) is the most common known inherited heart disorder, with a prevalence of 1:500 of the adult population. Etiology of HCM can be heterogeneous, with sarcomeric gene disease as the leading cause in up to 60% of the patients, and with a number of possible different diseases (phenocopies) in about 10%-15% of the patients. Early diagnosis of storage and infiltrative disorders, particularly those with specific treatments (i.e., Fabry disease and/or amyloidosis), means early management and treatment, with a significant impact on patients prognosis. Here, we report on four different cases of HCM, highlighting difficulties to make differential diagnosis of different forms of cardiomyopathies, and their potential impact on the management.

Original languageEnglish
Pages (from-to)120-123
Number of pages4
JournalJournal of Cardiovascular Echography
Volume28
Issue number2
DOIs
Publication statusPublished - Jun 19 2018

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Fabry Disease
Mitochondrial Diseases
Hypertrophic Cardiomyopathy
Amyloidosis
Cardiomyopathies
Early Diagnosis
Differential Diagnosis
Therapeutics
Population
Genes

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Diagnostic Clues for the Diagnosis of Nonsarcomeric Hypertrophic Cardiomyopathy (Phenocopies) : Amyloidosis, Fabry Disease, and Mitochondrial Disease. / Limongelli, Giuseppe; Masarone, Daniele; Verrengia, Marina; Gravino, Rita; Salerno, Gemma; Castelletti, Silvia; Rubino, Marta; Marrazzo, Tommaso; Pisani, Antonio; Cecchi, Franco; Elliott, Perry Mark; Pacileo, Giuseppe.

In: Journal of Cardiovascular Echography, Vol. 28, No. 2, 19.06.2018, p. 120-123.

Research output: Contribution to journalArticle

Limongelli, Giuseppe ; Masarone, Daniele ; Verrengia, Marina ; Gravino, Rita ; Salerno, Gemma ; Castelletti, Silvia ; Rubino, Marta ; Marrazzo, Tommaso ; Pisani, Antonio ; Cecchi, Franco ; Elliott, Perry Mark ; Pacileo, Giuseppe. / Diagnostic Clues for the Diagnosis of Nonsarcomeric Hypertrophic Cardiomyopathy (Phenocopies) : Amyloidosis, Fabry Disease, and Mitochondrial Disease. In: Journal of Cardiovascular Echography. 2018 ; Vol. 28, No. 2. pp. 120-123.
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