Varied imaging manifestations in EFEMP2 Related Cutis Laxa Associated Arterial Tortuosity

Autor:	Jini Joseph, Sujith Janardhanan
Jazyk:	angličtina
Rok vydání:	2023
Předmět:	autosomal recessive cutis laxa type 1b epidermal growth factor containing fibulin extracellular matrix protein 2 multisystem disease vascular structures Medicine
Zdroj:	Journal of Clinical and Diagnostic Research, Vol 17, Iss 7, Pp 03-05 (2023)
Druh dokumentu:	article
ISSN:	2249-782X 0973-709X
DOI:	10.7860/JCDR/2023/62595.18233
Popis:	An eight-month-old male baby was brought to the hospital by his parents due to poor weight gain, lower respiratory tract infection, and exertional dyspnoea (noticed by the parents) for one month. During the clinical examination, a grade-III ejection systolic murmur and end diastolic murmur were observed. A hyperdynamic apex and mild tachypnoea were also noted. Echocardiography (ECHO) was performed to investigate the suspicion of cardiac disease. The ECHO revealed aneurysmal aortic dilatation, moderate to severe aortic regurgitation, and was suggestive of Arterial Tortuosity Syndrome (ATS). Subsequently, a Computed Tomography (CT) pulmonary angiogram was conducted
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/d0d4e9cf870640dab9171a842602f630 Zobrazit plný text záznamu View record in DOAJ Plný text ve formátu PDF