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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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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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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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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.
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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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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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Marfan syndrome.

Eesha Jain1, Ramesh Kumar Pandey

  • 1Department of Paediatric and Preventive Dentistry, Faculty of Dental Sciences, King George's Medical University, Lucknow, Uttar Pradesh, India.

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|December 17, 2013
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Summary
This summary is machine-generated.

Marfan syndrome, a connective tissue disorder, presents diverse symptoms. Early dental screening can aid in timely diagnosis and management of this rare condition.

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Area of Science:

  • Genetics and Medicine
  • Connective Tissue Disorders

Background:

  • Marfan syndrome is a rare, autosomal dominant connective tissue disorder.
  • It affects multiple organ systems, including skeletal, cardiovascular, and orofacial structures.
  • While lacking a cure, early diagnosis and management improve patient prognosis.

Observation:

  • Marfan syndrome diagnosis is primarily clinical, requiring family history and physical examination.
  • Patients often exhibit characteristic physical and orofacial features, but variable expression can delay recognition.
  • Dental practitioners frequently encounter patients with Marfan syndrome due to early presentation for dental care.

Findings:

  • This case report highlights the potential for preliminary Marfan syndrome screening within a dental setting.
  • Dental professionals can play a role in identifying potential cases through routine examinations.
  • Timely referral from dental offices can facilitate earlier diagnosis and intervention.

Implications:

  • Integrating Marfan syndrome screening into dental practice can improve early detection rates.
  • Enhanced awareness among dental professionals can lead to better patient outcomes.
  • This approach underscores the importance of interdisciplinary collaboration in managing rare genetic disorders.