Key result
Ebstein anomaly is linked to primary lower-extremity lymphedema, suggesting a novel syndromic association.
Why the study?
The coexistence of Ebstein anomaly and primary lymphedema may represent a previously unrecognized syndromic association requiring clinical awareness.
Case Report (n=1)
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This case highlights a potentially unrecognized syndromic association between Ebstein anomaly and primary lymphedema, suggesting physicians should consider lymphatic evaluation in congenital heart disease patients presenting with unexplained edema.
A 15-year-old male patient with a congenital heart disease known as Ebstein anomaly presented with edema of the right leg.The patient underwent lymphoscintigraphy, which revealed bilateral hypoplasia of the lower-extremity lymphatic system.The coexistence of these conditions may represent a previously unrecognized syndromic association.Physicians should be aware of the possible coexistence of these conditions and investigate patients with Ebstein anomaly in order to minimize physical and psychological complications.
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Dimakakos et al. (2026) conducted a case report in Ebstein anomaly and primary lymphedema (n=1). Ebstein anomaly was evaluated on Diagnosis of bilateral lower-extremity lymphatic hypoplasia. A 15-year-old male with Ebstein anomaly was diagnosed with primary lymphedema of the lower extremities, suggesting a potentially unrecognized syndromic association.
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