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Related Concept Videos

Pulmonary Hypertension: Classification and Pathogenesis01:30

Pulmonary Hypertension: Classification and Pathogenesis

Pulmonary hypertension (PH) is a severe health condition in which the mean pulmonary arterial pressure increases to 25 mmHg or more, even when the body is at rest. This high pressure in the blood vessels that transport blood from the heart to the lungs can cause various symptoms, including shortness of breath, can lead to right heart failure, and significantly affect the overall quality of life.
There are various classifications for PH, each relating to different underlying causes and also...
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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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Echocardiographic Evaluation of Atrial Communications before Transcatheter Closure
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Case Report: Patent ductus arteriosus with tuberous sclerosis complex.

Tingrui Chen1, Xiaoxiao Wu1, Yiping Wang1

  • 1Department of ICU, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.

Frontiers in Cardiovascular Medicine
|August 9, 2024
PubMed
Summary

This study reports a rare case of adult patent ductus arteriosus (PDA) in a patient with Tuberous Sclerosis Complex (TSC). Genetic analysis confirmed TSC2 mutation, highlighting a potential gene-level link between TSC and PDA.

Area of Science:

  • Genetics
  • Cardiology
  • Dermatology

Background:

  • Tuberous Sclerosis Complex (TSC) is a genetic disorder associated with various tumors.
Keywords:
ICUTSCgenepatent ductus arteriosustuberous sclerosis complex

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  • Cardiovascular manifestations, primarily cardiac rhabdomyomas, are common in pediatric TSC.
  • Patent Ductus Arteriosus (PDA) is less commonly reported in adult TSC patients.