Abstract
Cardiomyopathies are little known to internists and general practitioners (GPs), and not always able to arouse the interest of cardiologists. Probably, this happens because cardiomyopathies are perceived as rare and complex disorders, a prerogative of a few dedicated centers. This may partly explain why the diagnosis of cardiomyopathy is often missed and, consequently, why cardiomyopathies are largely underdiagnosed. Internists and general practitioners should have an interest in these conditions, because cardiomyopathies are not as rare as generally perceived, and because their complexity can be unravelled with knowledge and methodology. Cardiomyopathies are defined as myocardial disorders in which the heart is structurally and functionally abnormal in the absence of coronary artery disease or abnormal loading conditions. Irrespective of the cardiac imaging technique used, a limited number of phenotypes are defined based on ventricular morphology and function. These basic phenotypes include hypertrophic, dilated, restrictive and right ventricular arrhythmogenic cardiomyopathies. Aim of this review is to describe a simplified approach to the detection of the underlying causes of specific phenotypes. We will focus our attention on the basic phenotypes, presenting a diagnostic work-up and a suggestive clinical case for each phenotype.
Highlights
Irrespective of the cardiac imaging techm nique used, a limited number of phenotypes o are defined based on ventricular morpholoc gy and function
We will focus our attention on the basic phenotypes, presenting a diagnostic work-up and a suggestive clinical case for each phenotype
Cardiomyopathies are little known to be multidisciplinary in nature, and the fol- ent diagnostic techniques considered and a internists and general practitioners (GPs), lowing steps of the work-up need a step- multidisciplinary team meeting organized.[13] and not always able to arouse the interest wise selection of appropriate diagnostic Despite all efforts, in the 25% of cases it is of cardiologists themselves
Summary
The HCM is defined by the presence of increased left ventricular wall thickness that is not solely explained by abnormal loading conditions.[6]. The first-level laboratory tests permal recessive inheritance is less common formed in HCM are listed in Table 1 and Dilated phenotype and is typical in Friedreich ataxia and some mitochondriopathies.[17] The X-linked inheritance is the typical pattern of uncommon conditions such as Fabry and Danon disease.[18] The matrilineal patter of inheritance is a specific clue of mitochondriopathies caused by mitochondrial DNA mutation.[19] The age is a potential diagnostic clue: the presence of HCM in neonates and children suggests a congenital syndrome or an inhermay contribute to the diagnosis Other diagnostic tools, such as cardiac magnetic resonance (CMR), nuclear scintigraphy, genetic testing and endomyocardial biopsy, remain useful in diagnosis clarification and prognostic assessment, but for their costs, diffusion and invasiveness are still considered as second level techniques, their adoption in Internal Medicine Departments still being very limited.
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