The European Society of Cardiology defines cardiomyopathy as ¿A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease, and congenital heart disease sufficient to cause the observed myocardial abnormality¿. These disorders are commonly grouped into morphological subtypes that include hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), restrictive cardiomyopathy (RCM) and arrhythmogenic right ventricular cardiomyopathy (ARVC). Each phenotype is further subclassified into genetic (familial) and nongenetic (nonfamilial) forms.
Given the similarity between cardiac and skeletal muscle, is not surprising that the heart is involved in many neuromuscular disorders (NMDs), in the form of cardiomyopathy, conduction defects, and/or arrhythmias. For many NMDs, cardiac disease represents a major cause of morbidity and mortality, yet prevalence, age at onset and severity of cardiac involvement varies significantly according to the specific etiology, with phenotype/genotype correlations continuously evolving. Notably cardiomyopathies may be severe enough to cause heart failure or sudden cardiac death, thus pathologist may be involved in the diagnostic flow chart after cardiac transplant and at autopsy.
Aim of this project is to evaluate the prevalence and clinicopathological phenotype of cardiomyopathies associated with neuromuscular disorder in end-stage heart failure patients undergoing cardiac transplant. To this aim a total of 206 hearts, consecutively explanted at the Department of Cardiac Surgery of San Camillo Hospital of Rome over a 15-years period, will be retrospectively reviewed.
Cardiac phenotypes are useful clinical markers that guide diagnostic suspicion of a specific cause and pathologists may play a major role in unraveling the etiology, provided that a detailed diagnostic flowchart is followed.
Inherited muscle disorders are far more common than generally believed. The heart is commonly involved in most cases and requires comprehensive cardiology care. Cardiac phenotypes (cardiomyopathies and rhythms disor- ders) can be the first or predominant manifestations. and the spectrum of cardiac manifestations in neuromuscular diseases is wide.
The cardiac phenotypes need precise characterization because they are often the only or the predominant manifestations and
the prognostic determinants of many hereditary muscle disorders.