Journal of Cholesterol and Heart Disease

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Perspective - Journal of Cholesterol and Heart Disease (2022) Volume 6, Issue 5

Targeting genetic architecture in diagnosis and management of hypertrophic cardiomyopathy.

Ana Morales*

Departments of Pediatrics and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, United States

*Corresponding Author:
Ana Morales
Departments of Pediatrics and Medical and Molecular Genetics,
Indiana University School of Medicine,
Indianapolis, United States

Received:03-Oct-2022, Manuscript No. AACHD-22-80636; Editor assigned: 05-Oct-2022, PreQC No. AACHD-22-80636(PQ); Reviewed:19- Oct-2022, QC No. AACHD-22-80636; Revised:24-Oct-2022, Manuscript No. AACHD-22-80636(R); Published:31-Oct-2022, DOI:10.35841/aachd-6.5.125

Citation: Morales A. Targeting genetic architecture in diagnosis and management of hypertrophic cardiomyopathy. J Cholest Heart Dis. 2022; 6(5):125

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Cardiomyopathy, Hypertrophic cardiomyopathy, Restrictive cardiomyopathy.


Myocardial disorders with concomitant structural and functional abnormalities are referred to as cardiomyopathies. Due to ambiguities in definition, classification, and clinical diagnosis, clinical practice for these illnesses for a long time lacked clarity [1].

The understanding of molecular and genetic concerns, pathophysiology, and the clinical and radiological assessment of diseases has all seen significant advancements in recent decades. Additionally, there has been improvement in the treatment of many forms of cardiomyopathy. Cardiomyopathies are complicated entities, according to new research on these disorders. In this article, the evolution of cardiomyopathy categorization is given special emphasis with the goal of supporting doctors in seeing beyond schematic diagnostic labels to arrive at a more accurate diagnosis [2].

The pathophysiology understanding of the genesis and clinical course of cardiomyopathies has evolved as a result of genotype knowledge, and its significance in clinical practice for the diagnosis and prevention of cardiomyopathies has increased. On the basis of modern molecular pathways that contribute to the pathophysiology of cardiomyopathies, new methods for clinical and prognostic assessment are offered. The clinical diagnosis and management approaches for these illnesses are improved by the genotype-phenotype complex approach to assessment. The review discusses the crucial role that imaging techniques, notably echocardiography and cardiac MRI, play in the diagnosis of various cardiomyopathies. In conclusion, this review offers a thorough explanation of the current state of cardiomyopathies for cardiovascular physicians, including everything from genetics to management issues [3].

There are more than 500 unique transmutations in 11 mutant genes that cause hypertrophic cardiomyopathy. The myosin-binding protein C and beta-myosin heavy chain are involved in the most typical variant. Not all people with a hereditary hypertrophic cardiomyopathy defect exhibit symptoms. This is most likely due to the variability of hypertrophic cardiomyopathy's phenotypes rather than an effect of the environment or other genetic modifiers. A rare form of restrictive cardiomyopathy develops when the ventricles become incapable of contracting. This is frequently the outcome of an infiltrative process, such as desmin abnormalities, sarcoidosis, hemochromatosis, and amyloidosis. Restrictive and hypertrophic cardiomyopathy is caused by a troponin mutation in one of the family forms of restrictive cardiomyopathy [4].

Additionally, peripartum cardiomyopathy and alcohol-related cardiomyopathy may be seen by family physicians. A rare form of dilated cardiomyopathy, peripartum cardiomyopathy typically develops during the third trimester of pregnancy or the first five months following delivery. Multiparous women over 30 who are obese and have experienced preeclampsia are more likely to have it. Alcoholism can also cause a dilated cardiomyopathy, which may be treatable by quitting drinking. Heart failure can be a symptom of hypertrophic cardiomyopathy, albeit the earliest symptom may be sudden cardiac death [5].


Dynamic blockage brought on by anterior mitral valve motion tends to develop in the majority of hypertrophic cardiomyopathy patients. Due to inadequate filling during diastole and hallmark heart failure symptoms that worsen as systolic dysfunction rises, restrictive cardiomyopathy often results in diastolic heart failure. However, syncope may occur, and sudden death is rare.


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