Congenital heart disease and Robinow syndrome

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S Atalay1, B Ege, A Imamoğlu

  • 1Department of Pediatric Cardiology, Ankara University, Turkey.

Clinical Dysmorphology
|July 1, 1993
PubMed

Insights

Robinow syndrome, a rare genetic disorder, is frequently associated with congenital heart defects (CHDs), particularly right ventricular outflow obstruction. Early cardiac screening in affected infants is crucial for timely diagnosis and management of these critical conditions.

Area of Science:

  • Genetics
  • Pediatrics
  • Cardiology

Background:

  • Robinow syndrome is a rare autosomal dominant developmental disorder characterized by specific facial features, skeletal abnormalities, and delayed growth.
  • Congenital heart defects (CHDs) are known to occur in a subset of individuals with Robinow syndrome, though their prevalence and specific types require further elucidation.

Observation:

  • A 6-month-old infant diagnosed with Robinow syndrome presented with tricuspid atresia (type Ia), a severe form of CHD.
  • Review of existing literature reveals at least 67 published cases of Robinow syndrome, with nine (approximately 13%) involving CHD.

Findings:

  • The majority of CHDs reported in Robinow syndrome cases, including the current case, involve right ventricular outflow obstruction.
  • Congenital heart defects are not rare in Robinow syndrome, with a significant proportion exhibiting obstructive lesions of the right ventricular outflow tract.

Implications:

  • This case underscores the importance of comprehensive cardiologic evaluation, including echocardiography, for all infants diagnosed with Robinow syndrome.
  • Early detection and management of CHDs in Robinow syndrome patients can potentially improve clinical outcomes and long-term prognosis.

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