Varied imaging manifestations in EFEMP2 Related Cutis Laxa Associated Arterial Tortuosity

Abstract

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

Keywords

• autosomal recessive cutis laxa type 1b
• epidermal growth factor containing fibulin extracellular matrix protein 2
• multisystem disease
• vascular structures