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Cardiovascular System Abnormal Findings II: Auscultation

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[Oculo-auriculo-vertebral spectrum and cardiac malformations].

Rafael Fabiano Machado Rosa1, Lisiane Dall'agnol, Paulo Ricardo Gazzola Zen

  • 1Programa de Pós-Graduação em Patologia, Universidade Federal de Ciências da Saúde de Porto Alegre-UFCSPA, Porto Alegre, RS.

Revista Da Associacao Medica Brasileira (1992)
|March 27, 2010
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Summary

Congenital heart defects are common in patients with oculo-auriculo-vertebral spectrum (OAVS), affecting nearly 40%. These cardiac malformations are the primary cause of mortality in OAVS patients, underscoring the need for early cardiac evaluation.

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Area of Science:

  • Cardiology
  • Medical Genetics
  • Pediatrics

Context:

  • Oculo-auriculo-vertebral spectrum (OAVS) is a complex congenital disorder.
  • Cardiac anomalies are a known, but variably reported, feature of OAVS.

Purpose:

  • To determine the frequency and types of congenital heart defects (CHDs) in OAVS patients.
  • To correlate CHDs with clinical characteristics and patient outcomes.
  • To emphasize the importance of cardiac screening in OAVS.

Summary:

  • A study of 33 OAVS patients found 39.4% had cardiac abnormalities, primarily conotruncal and septal defects.
  • Patients with CHDs were younger at their first evaluation.
  • CHDs were the leading cause of death, with 4 out of 5 deaths in CHD-affected patients.

Impact:

  • Highlights the significant prevalence of CHDs in OAVS.
  • Reinforces CHDs as a major contributor to mortality in this population.
  • Supports the recommendation for routine cardiac evaluation in all OAVS patients, particularly in early childhood.