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Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

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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...
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Mitral Valve Prolapse I: Introduction01:27

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IntroductionThe mitral valve, one of the heart's four valves, regulates blood flow. These valves have flaps that open and close to direct blood properly through the heart and body. During each heartbeat, the flaps open for blood to pass through and seal shut to prevent backflow. Specifically, the mitral valve opens to allow blood flow from the heart's upper left chamber to the lower left chamber. It then closes securely as the lower left chamber contracts to pump blood to the body, preventing...
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Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

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Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
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Aneurysm I: Introduction01:30

Aneurysm I: Introduction

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An aortic aneurysm is a localized outpouching or dilation at a weak point in the artery wall. It may involve different parts of the aorta, such as the abdominal aorta, aortic arch, or thoracic aorta.Etiological factorsSeveral disorders are associated with aortic aneurysms.Congenital causes, such as primary connective tissue disorders like Marfan syndrome, impact the integrity and strength of connective tissues, notably affecting the aorta. Marfan syndrome is a genetic disorder that specifically...
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Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

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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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Sex-linked Disorders01:43

Sex-linked Disorders

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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
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Marfan Syndrome.

T Sivasankari1, Philips Mathew2, Ravi David Austin3

  • 1Department of Oral Medicine and Radiology, Indira Gandhi Institute of Dental Sciences, Sri Balaji Vidyapeeth University, Puducherry, India.

Journal of Pharmacy & Bioallied Sciences
|June 7, 2017
PubMed
Summary
This summary is machine-generated.

Marfan syndrome (MFS) is a genetic connective tissue disorder affecting multiple body systems. Early diagnosis and treatment of MFS, including its orofacial symptoms, are crucial for patient well-being.

Keywords:
Autosomal dominantMarfan syndromeoral manifestation

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Area of Science:

  • Genetics
  • Medical Science
  • Rheumatology

Background:

  • Marfan syndrome (MFS) is an autosomal dominant inherited multisystem connective tissue disorder.
  • It affects approximately 1 in 10,000 individuals with equal prevalence in both genders.

Observation:

  • Key MFS manifestations include disproportionate limb length, hyperlaxity, scoliosis, cardiovascular and pulmonary issues, and skeletal overgrowth.
  • Common orofacial features include high-arched palate, hypodontia, long narrow teeth, bifid uvula, mandibular prognathism, and temporomandibular disorders.

Findings:

  • The study highlights the diverse clinical manifestations of Marfan syndrome.
  • It emphasizes the commonality of orofacial abnormalities in MFS patients.

Implications:

  • Early diagnosis of Marfan syndrome is vital for preventing severe cardiovascular complications.
  • Addressing orofacial manifestations can significantly improve the quality of life for MFS patients.