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A Modified Sonographic Algorithm for Image Acquisition in Life-Threatening Emergencies in the Critically Ill Newborn

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A newborn with cardiomegaly.

Shailendra Upadhyay¹, Sabrina Law, Dipak Kholwadwala

¹Schneider Children's Hospital/Long Island Jewish Medical center, 269-01, 76 Avenue, New Hyde Park, NY 115 01, USA.

Journal of Emergencies, Trauma, and Shock

|October 9, 2010

Summary

This case report details a rare instance of Ebstein's anomaly in an infant with Down syndrome. Early clinical signs and investigations aided in the prompt diagnosis of this uncommon cardiac condition.

Keywords:

Chest X-ray Ebstein’s anomaly electrocardiogram inter-atrial communication tricuspid valve

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Area of Science:

Pediatric Cardiology
Clinical Genetics
Neonatology

Background:

Down syndrome is a genetic disorder associated with various congenital anomalies.
Congenital heart defects are common in Down syndrome, but Ebstein's anomaly is exceptionally rare.
Early identification of cardiac anomalies is crucial for neonatal outcomes.

Observation:

A neonate diagnosed with Down syndrome presented with hypoxemia and tachypnea at birth.
Clinical examination, electrocardiogram (ECG), and chest X-ray findings raised suspicion for Ebstein's anomaly.
These initial findings suggested a diagnosis not typically associated with Down syndrome.

Findings:

Echocardiography confirmed Ebstein's anomaly in the neonate.
This represents one of only about seven reported cases of Ebstein's anomaly co-occurring with Down syndrome.
The case underscores the diagnostic value of thorough clinical evaluation and initial investigations.

Implications:

Highlights the importance of considering rare cardiac conditions even in the presence of known genetic syndromes.
Emphasizes the critical role of clinical acumen and non-invasive initial investigations in diagnosing complex neonatal conditions.
Contributes to the limited literature on the association between Down syndrome and Ebstein's anomaly, aiding future diagnostic and management strategies.