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Related Concept Videos

Imbalances in Cardiac Output01:26

Imbalances in Cardiac Output

The heart's primary function is to pump blood throughout the body, maintaining a balance between blood sent out (cardiac output) and blood returning (venous return). If this balance is disrupted, it can result in congestive heart failure (CHF), a severe condition where the heart becomes an inefficient pump, leading to inadequate blood circulation.
CHF can occur due to the failure of either side of the heart. Left-side failure leads to pulmonary congestion—the right side continues to send blood...
Pericarditis I: Introduction01:22

Pericarditis I: Introduction

Pericarditis is defined as the inflammation of the pericardium, the thin, sac-like membrane surrounding the heart. This condition can cause significant chest pain and other symptoms, often necessitating medical intervention. The pericardium has two layers: the inner visceral layer and the outer parietal layer, separated by a small amount of fluid that reduces friction during heartbeats.Types of PericarditisPericarditis can be classified into several types based on the duration and nature of the...
Pericarditis II: Clinical Features and Diagnostic Tests01:19

Pericarditis II: Clinical Features and Diagnostic Tests

Pericarditis is distinguished by inflammation of the pericardium, the fibrous sac that encases the heart. It can be acute, lasting less than six weeks, or chronic, persisting for over three months. Understanding its clinical manifestations and diagnostic findings is crucial for timely and effective management.Clinical ManifestationsWhile pericarditis can be asymptomatic, it usually presents with characteristic symptoms such as:Chest Pain: The most characteristic symptom of pericarditis is chest...
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...

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Related Experiment Video

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Postconditioning with Lactate-enriched Blood for Cardioprotection in ST-segment Elevation Myocardial Infarction
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Pericardial effusion in primary systemic carnitine deficiency.

Duangrurdee Wattanasirichaigoon1, Pongsak Khowsathit, Anannit Visudtibhan

  • 1Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand, radwc@mahidol.ac.th.

Journal of Inherited Metabolic Disease
|July 11, 2006
PubMed
Summary

This study reports the first case of primary systemic carnitine deficiency (PSCD) presenting with pericardial effusion. Genetic analysis revealed compound heterozygosity for SLC22A5 gene mutations and polymorphisms in the patient.

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Area of Science:

  • Cardiology
  • Genetics
  • Metabolic Disorders

Background:

  • Primary systemic carnitine deficiency (PSCD) is an inherited metabolic disorder affecting fatty acid transport.
  • Carnitine deficiency can lead to various clinical manifestations, primarily affecting organs with high energy demands like the heart and skeletal muscle.

Observation:

  • A patient presented with a complex clinical picture including pericardial effusion, a previously unreported complication of PSCD.
  • The pericardial effusion in this case added significant complexity to the patient's presentation.

Findings:

  • Genetic investigation identified compound heterozygosity for two pathogenic mutations in the SLC22A5 gene: T440M and F23del.
  • Four SLC22A5 polymorphisms (c.IVS3+6A>G, c.-77G>A, c.-78C>T, and p.S95S) were also identified, contributing to the patient's genotype.

Implications:

  • This case highlights pericardial effusion as a potential, albeit rare, manifestation of primary systemic carnitine deficiency.
  • Understanding the genetic basis (SLC22A5 mutations and polymorphisms) is crucial for diagnosing and managing PSCD, especially in complex cases.
  • Further research may elucidate the mechanism linking carnitine deficiency to cardiac complications like pericardial effusion.