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Congenital heart disease and Robinow syndrome
1Department of Pediatric Cardiology, Ankara University, Turkey.
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.
Abstract:
We present a 6-month-old infant with Robinow syndrome and tricuspid atresia (type Ia). Up to now, at least 67 cases of Robinow syndrome have been published including nine cases with a congenital heart defect (CHD). As in our case, the majority of the CHD were right ventricular outflow obstruction. Robinow syndrome with CHD is not rare and in all cases of Robinow syndrome detailed cardiologic evaluation and echocardiography should be performed.