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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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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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The heart in RASopathies.

Angelica Bibiana Delogu1,2, Giuseppe Limongelli3,4, Paolo Versacci5

  • 1Unit of Pediatrics, Pediatric Cardiology, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|November 21, 2022
PubMed
Summary
This summary is machine-generated.

RASopathies, a group of genetic disorders, involve a wide range of cardiovascular issues beyond initial descriptions. Understanding genotype-phenotype correlations is key for patient prognosis and management of these RAS/MAPK pathway diseases.

Keywords:
Costello syndromeNoonan syndromeNoonan syndrome with multiple lentiginesRASopathycardio-facio-cutaneous syndromecongenital heart disease

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Area of Science:

  • Genetics and Molecular Biology
  • Cardiology
  • Developmental Biology

Background:

  • Cardiovascular manifestations in RASopathies have evolved beyond pulmonary valve stenosis and hypertrophic cardiomyopathy.
  • RAS/MAPK pathway dysregulation is a common feature across RASopathy syndromes, leading to overlapping cardiovascular anomalies.
  • Genotype-phenotype correlations are increasingly recognized, influencing clinical presentation and prognosis.

Purpose of the Study:

  • To review the cardiac manifestations of common RASopathy syndromes.
  • To explore the relationship between genetic variations and cardiac phenotypes.
  • To discuss the impact of cardiovascular abnormalities on patient morbidity and mortality, and outline follow-up considerations.

Main Methods:

  • Literature review focusing on RASopathies and their cardiovascular aspects.
  • Analysis of genotype-phenotype correlations in RASopathy syndromes.
  • Synthesis of information on clinical outcomes, morbidity, mortality, and management strategies.

Main Results:

  • RASopathies present a spectrum of cardiovascular anomalies, influenced by specific genetic variants.
  • Understanding genotype-phenotype associations is crucial for accurate diagnosis, prognosis, and family counseling.
  • Cardiovascular abnormalities significantly contribute to the morbidity and mortality in patients with RAS/MAPK pathway diseases.

Conclusions:

  • The cardiovascular phenotype in RASopathies is diverse and linked to specific genetic underpinnings.
  • Genotype-phenotype correlation is vital for predicting cardiac outcomes and guiding long-term patient management.
  • Comprehensive cardiac evaluation and follow-up are essential for individuals with RASopathies throughout their lives.