International Clinical and Medical Case Reports Journal (ISSN: 2832-5788) | Volume 3, Issue 6 | Review Article | Open Access DOI
Jorge E Jalil*
Javier Revello1, and Jorge E Jalil1*
1Pontificia Universidad Católica de Chile, School of Medicine, Division of Cardiovascular Diseases, Diagonal Paraguay 362, Chile
*Correspondence to: Jorge E Jalil
Fulltext PDFDilated Cardiomyopathy (DCM) is defined as a condition in which the patient presents with left ventricular dilatation (in adults, an Left Ventricular (LV) end-diastolic diameter >58 mm in males and >52 mm in females, and an LV end-diastolic volume index ≥75 mL/m2 in males and ≥62 mL/m2 in females, as determined by echocardiogram [1,2] accompanied by significant compromise in ejection fraction (LVEF <50%). This condition should not be attributed to abnormal loading conditions (e.g., hypertension, valvular disease) or significant coronary artery disease (significant stenosis of the left main coronary artery or proximal third of the anterior descending artery, or significant stenosis in 2 or more of the other epicardial vessels) [3,4].
DCM is actually a non-specific phenotype that's produced as a final result of multiple genetic and environmental interactions. This means that it's a clinical entity that can be produced by multiple etiologies [5]. At first, it can be classified as "Familial/Genetic" and "Non-Familial" depending on whether it follows a pattern of inheritance. It's estimated that at least 25% of patients in the West who present the disease would have evidence of a familial disease, with a pattern of inheritance that is generally autosomal dominant [6].
This condition may be considered ‘Familial’ when 2 or more first or second degree relatives express the disease phenotype, or when a first degree relative presents with an autopsy compatible with dilated cardiomyopathy following sudden death before the age of 50 years [7].
A working group of the European Society of Cardiology recently proposed a clinical spectrum of presentation that expands the classic definition [8]. This new definition initially recognizes a preclinical phase of the disease that includes asymptomatic relatives of index cases with expression of diseaserelated genes, patients with isolated ventricular dilatation without systolic dysfunction, and patients with neither dilatation nor systolic dysfunction, but who manifest arrhythmias or conduction disturbances. Subsequently, it is recognized that patients may progress into two groups: one that presents the classic disease with dilatation and ventricular dysfunction, and another that presents a hypokinetic ventricle (LVEF below 45%) but without dilatation. The disease is then recognized as a spectrum in which the phenotype progressively evolves. This group of patients with a non-dilated hypokinetic heart represents approximately one-third of the patients in the clinical phase of the DCM universe [8].
Javier Revello, Jorge E Jalil. Pontificia Universidad Católica de Chile, School of Medicine, Division of Cardiovascular Diseases, Diagonal Paraguay 362, Chile.IntClincMed Case Rep Jour. 2024;3(6):1-15.