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

Autor: Qadi AM; King Abdul-Aziz Cardiac Center (KACC), King Abdul-Aziz Medical City (KAMC), King Saud University, Riyadh., Hamadah HK; King Abdul-Aziz Cardiac Center (KACC), King Abdul-Aziz Medical City (KAMC), King Saud University, Riyadh., Jijeh AM; King Abdul-Aziz Cardiac Center (KACC), King Abdul-Aziz Medical City (KAMC), King Saud University, Riyadh., Hijazi OM; King Abdul-Aziz Cardiac Center (KACC), King Abdul-Aziz Medical City (KAMC), King Saud University, Riyadh., Kabbani MS; King Abdul-Aziz Cardiac Center (KACC), King Abdul-Aziz Medical City (KAMC), King Saud University, Riyadh.
Jazyk: angličtina
Zdroj: Journal of the Saudi Heart Association [J Saudi Heart Assoc] 2014 Jul; Vol. 26 (3), pp. 170-3. Date of Electronic Publication: 2014 Jan 21.
DOI: 10.1016/j.jsha.2014.01.004
Abstrakt: 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.
Databáze: MEDLINE