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Rheumatic Heart Disease I: Introduction01:23

Rheumatic Heart Disease I: Introduction

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Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...
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Peripheral artery disease (PAD) predominantly results from atherosclerosis, which involves the accumulation of fatty deposits, or plaques, within the walls of arteries. This causes them to narrow and harden, significantly reducing blood flow. PAD predominantly affects the legs but also impacts other areas, such as the arms, thereby impairing overall circulation and organ function.Etiology of PAD:The principal cause of PAD is atherosclerosis, which results from fatty deposits inside the arterial...
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Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is...
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Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies01:22

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The key clinical manifestations of Rheumatic heart disease (RHD) include several distinct cardiac symptoms.Carditis, a hallmark of acute rheumatic fever, involves inflammation of the heart's endocardium, myocardium, and pericardium. Chronic RHD often results from recurrent episodes of carditis. Its symptoms include the following:Murmurs are caused by valvular damage, especially to the mitral and aortic valves. Mitral stenosis or regurgitation is common, with characteristic heart murmurs...
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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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AssessmentA comprehensive assessment is essential in managing a patient with rheumatic heart disease (RHD). Begin with obtaining a detailed medical history, including recent streptococcal infections, a history of rheumatic fever, or previously diagnosed rheumatic heart disease. Assess the patient for symptoms such as fever, chest pain, widespread joint pain (arthralgia), tachycardia, pericardial friction rub, muffled heart sounds, heart murmurs, peripheral edema, subcutaneous nodules, and...
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Case 316: Progressive Pseudorheumatoid Dysplasia.

Amit Gupta1, Narendra Bagri1, Stuti Chandola1

  • 1From the Department of Radiodiagnosis and Interventional Radiology (A.G., S.C., M.J.) and Department of Pediatrics (N.B.), All India Institute of Medical Sciences, New Delhi 110029, India.

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Summary

A 10-year-old boy with hand joint swelling and short stature was initially misdiagnosed with juvenile idiopathic arthritis. Further investigation revealed a rare genetic disorder affecting bone and joint development.

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Area of Science:

  • Pediatric Rheumatology
  • Skeletal Dysplasia
  • Genetic Disorders

Background:

  • Juvenile idiopathic arthritis (JIA) is a common cause of chronic joint inflammation in children.
  • Misdiagnosis can lead to delayed treatment and suboptimal outcomes.
  • Rare genetic conditions can mimic autoimmune arthropathies in presentation.

Purpose of the Study:

  • To present a case of a child with persistent hand joint swelling and short stature.
  • To highlight the diagnostic challenges in differentiating rare skeletal disorders from JIA.
  • To emphasize the importance of comprehensive skeletal evaluation in complex pediatric cases.

Main Methods:

  • Clinical presentation of a 10-year-old boy with a 3-year history of hand joint swelling.
  • Physical examination findings including non-tender swelling, flexion deformities, and short stature.
  • Laboratory investigations (normal inflammatory markers, negative rheumatoid factor) and a skeletal survey.

Main Results:

  • The patient exhibited swelling and flexion deformities in metacarpophalangeal and interphalangeal joints.
  • Short stature (below the third centile) was noted.
  • Inflammatory markers and rheumatoid factor were negative, inconsistent with typical JIA.

Conclusions:

  • The clinical picture and negative inflammatory markers suggested a diagnosis other than JIA.
  • A skeletal survey was crucial for further diagnostic evaluation.
  • This case underscores the need for considering rare genetic skeletal dysplasias in pediatric patients with atypical joint symptoms.