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. 2014 Jul;26(3):170-3.
doi: 10.1016/j.jsha.2014.01.004. Epub 2014 Jan 21.

Ebstein cardiac anomaly, functional pulmonary atresia and isovaleric acidemia: A case report

Ammar M H Qadi  1 , Hussam K Hamadah  1 , Abdulraouf M Z Jijeh  1 , Omar M Hijazi  1 , Mohamad S Kabbani  1
Affiliations

Ebstein cardiac anomaly, functional pulmonary atresia and isovaleric acidemia: A case report

Ammar M H Qadi et al. J Saudi Heart Assoc. 2014 Jul.

Abstract

In this report, we present a rare association between Ebstein anomaly (EA) and isovaleric acidemia (IVA) in a newborn who was admitted to our cardiac center. He underwent for PDA stenting to maintain adequate pulmonary blood flow, later he developed recurrent metabolic acidosis, prominent sweaty feet odor, neutropenia and thrombocytopenia. His organic acids profile in the urine confirmed the diagnosis of IVA. To the best of our knowledge, there is no association between these two rare diseases. We are presenting this case report to highlight this rare association.

Keywords: Congenital heart disease; Ebstein anomaly; Isovaleric acidemia; Metabolic disorder.

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Figures

Figure 1
Figure 1
Trans thoracic echocardiography with Doppler showing tricuspid valve regurgitation. ∗ Tricuspid valve regurgitation, LV: Left ventricle, RV: Right ventricle, RA: Right atrium.
Figure 2
Figure 2
CXR after PDA stenting.
None
See this image and copyright information in PMC

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