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Related Concept Videos

Cardiomyopathy I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
Cardiomyopathy V: Interprofessional Care01:29

Cardiomyopathy V: Interprofessional Care

Managing cardiomyopathy involves addressing underlying or precipitating causes, treating heart failure with medications, and implementing dietary changes and a balanced exercise and rest regimen.Lifestyle ModificationsCardiomyopathy patients should adopt a low-sodium diet to reduce fluid retention and manage heart failure. A personalized exercise and rest plan helps maintain physical fitness without overstraining the heart. Avoiding alcohol and tobacco is essential to prevent further damage to...
Cardiomyopathy VI: Nursing Management01:29

Cardiomyopathy VI: Nursing Management

Assessment: Nursing management of patients with cardiomyopathy begins with a thorough assessment of the patient's history, including a family history of cardiomyopathy or sudden cardiac death, personal history of heart disease, hypertension, diabetes, and any alcohol consumption or drug use.During the physical examination, assess vital signs, look for signs of heart failure (such as edema, jugular venous distention, and cyanosis), auscultate for abnormal heart sounds (like murmurs and gallops),...

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Related Experiment Video

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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

Cardiomyopathy and carnitine deficiency.

Cristina Amat di San Filippo1, Matthew R G Taylor, Luisa Mestroni

  • 1Division of Medical Genetics, Departments of Pediatrics and Pathology, University of Utah, 2C412 SOM, 50 North Medical Drive, Salt Lake City, UT 84132, USA.

Molecular Genetics and Metabolism
|March 14, 2008
PubMed
Summary

Carnitine deficiency heterozygosity is not linked to cardiomyopathy. This study found no increased mutation frequency in patients with heart conditions, suggesting it

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Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle
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Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle

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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Published on: January 19, 2017

Area of Science:

  • Genetics
  • Cardiology
  • Metabolic Disorders

Background:

  • Carnitine facilitates fatty acid transfer for energy production; defects in its transporter OCTN2 cause primary carnitine deficiency.
  • Primary carnitine deficiency can lead to hypoketotic hypoglycemia and cardiomyopathy.
  • Heterozygotes may have reduced carnitine levels and benign cardiac hypertrophy; animal models suggest increased cardiomyopathy risk with age.

Purpose of the Study:

  • To investigate the association between heterozygosity for primary carnitine deficiency and cardiomyopathy in humans.
  • To determine the frequency of mutations in the SLC22A5 gene (encoding OCTN2) in cardiomyopathy patients.

Main Methods:

  • Analyzed SLC22A5 gene mutations in 324 cardiomyopathy patients and compared frequencies to the general population.
  • Expressed identified missense variants in Chinese Hamster Ovary (CHO) cells to assess functional effects on carnitine transport.
  • Utilized PCR, LCGreen I dye, and high-resolution thermal denaturation for analyzing exons 2-10; sequenced exon 1.

Main Results:

  • Heterozygosity for specific SLC22A5 variants (L144F, T264M, I312V, E317K, R488H) was found in 6/324 cardiomyopathy patients.
  • Functional analysis in CHO cells showed some variants altered carnitine transport (T264M decreased, E317K increased), while others did not.
  • The overall frequency of functionally significant carnitine transport variants in cardiomyopathy patients (0.61%) was not significantly different from the general population (1.11%).

Conclusions:

  • Heterozygosity for primary carnitine deficiency is not significantly more frequent in patients with unselected cardiomyopathy.
  • The study suggests that heterozygosity for primary carnitine deficiency is unlikely to be a major cause of cardiomyopathy in humans.