Health & Medical Anti Aging

Essentials of Hypertrophic Cardiomyopathy

Essentials of Hypertrophic Cardiomyopathy

Abstract and Introduction

Abstract


Hypertrophic cardiomyopathy (HCM) is an uncommon disease with significant consequences. Since the 1950s, major strides in understanding its etiology and pathogenesis have led to improved management and patient survival. Hypertrophic cardiomyopathy is associated with various mutations in several cardiac sarcomeric genes. Due to the complications of HCM, such as left ventricular outflow tract obstruction, diastolic dysfunction, arrhythmias, increased risk of stroke, infective endocarditis, and, most importantly, sudden cardiac death, appropriate and timely diagnosis is critical. This review summarizes current knowledge about HCM and the most appropriate investigations for persons suspected of having HCM. Treatment strategies for the disease and its complications are presented briefly.

Introduction


Cardiomyopathies (CMs) are diseases with a primary abnormality of the myocardium, often classified as dilated, restrictive, or hypertrophic (Figure 1).



(Enlarge Image)



Figure 1.



Hypertrophic Cardiomyopathy





Dilated cardiomyopathy is characterized by ongoing cardiac dilatation and systolic dysfunction, while restrictive cardiomyopathy manifests as impaired ventricular filling during diastole and normal or near-normal systolic function. Hypertrophic cardiomyopathy (HCM) is distinguished from the other CM by the presence of myocardial hypertrophy and in approximately 25% of individuals, left ventricular outflow tract obstruction (LVOTO).

This CM was initially described as a septal hypertrophy but is now a distinct entity called HCM, defined by its now characteristic lesion--the presence of asymmetric septal hypertrophy. It is a complex, multifaceted disease, related primarily to a genetic defect of the cardiac sarcomeric/contractile apparatus.

Affecting approximately 1 in 500 individuals, HCM is perhaps the most commonly inherited cardiovascular disorder, with many complications, including LVOTO, atrial and ventricular arrhythmias, diastolic dysfunction, myocardial infarction (MI), stroke, infective endocarditis (IE), and sudden cardiac death (SCD). Early identification of individuals with this condition, and screening of their families, is essential if these complications are to be avoided. The risk of death from HCM has been reported to be 1-6%. A majority of these individuals today will live to older age and some will undergo septal myectomy in their late 60s. The incidence of new diagnosed cases of HCM in the older individual is not certain. However HCM appears to carry a better prognosis in the older individual, although the prognosis is altered by the higher prevalence of comorbidities.

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