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Related Experiment Video

Updated: May 21, 2026

Echocardiographic Evaluation of Atrial Communications before Transcatheter Closure

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Published on: February 8, 2022

Corrected ASD: case closed?

Luis V Paiva¹, Rui Providencia, Joaquim Sá

¹Cardiology Department, Coimbra's Hospital Center, S. Martinho do Bispo, Coimbra, Portugal.

BMJ Case Reports

|June 13, 2012

Summary

Ellis-van Creveld syndrome (EvC) is a rare genetic disorder. This case highlights the importance of a holistic approach and interdisciplinary communication for diagnosing complex conditions like EvC, especially when congenital heart defects are present.

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Area of Science:

Medical Genetics
Cardiology
Rare Diseases

Background:

Ellis-van Creveld syndrome (EvC) is a rare autosomal recessive chondroectodermal dysplasia linked to EVC1 and EVC2 gene mutations.
Early diagnosis of EvC is crucial for effective management, with cardiac defects being a primary prognostic factor.

Observation:

A 42-year-old male with a history of atrial septal defect repair presented with a prolonged diagnostic journey.
The patient sought care across multiple specialties for over four decades before receiving a diagnosis.

Findings:

This case underscores the diagnostic challenges in rare genetic disorders with cardiac manifestations.
Delayed diagnosis in EvC can significantly impact patient outcomes and healthcare utilization.

Implications:

Emphasizes the necessity of a comprehensive, multidisciplinary approach in managing patients with congenital heart disease and suspected rare syndromes.
Highlights the critical role of inter-specialty communication for accurate and timely diagnosis in complex cases.