Open AccessDiagnostic clues for the diagnosis of nonsarcomeric hypertrophic cardiomyopathy (Phenocopies): Amyloidosis, fabry disease, and mitochondrial disease
Author(s) -
Giuseppe Limongelli,
Daniele Masarone,
Marina Verrengia,
Rita Gravino,
Gemma Salerno,
Silvia Castelletti,
Marta Rubino,
Tommaso Marrazzo,
Antonio Pisani,
Francesca Cecchi,
Perry Elliott,
Giuseppe Pacileo
Publication year - 2018
Publication title -
journal of cardiovascular echography
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.255
H-Index - 8
eISSN - 2347-193X
pISSN - 2211-4122
DOI - 10.4103/jcecho.jcecho_2_18
Subject(s) - phenocopy , medicine , hypertrophic cardiomyopathy , fabry disease , etiology , differential diagnosis , disease , amyloidosis , cardiomyopathy , restrictive cardiomyopathy , population , cardiology , heart disease , heart failure , pathology , genetics , gene , environmental health , mutant , biology
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.