CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy

Gerald G Behr,Vincent Beltroni,Christine T Lauren,Thomas J Starc,Maria C Garzon,Jessica J Kandel,Leonardo Liberman,Emile Bacha,Jocelyn Compton,Stephen J Kovacs,Kwame Anyane-Yeboa,Rachel Landres,Kimberly D Morel,Philip M Meyers

doi:10.1186/2045-824x-4-19

Abstract

Mutations in the RASA-1 gene underlie several related disorders of vasculogenesis. Capillary malformation-arteriovenous malformation (CM-AVM) is one such entity and was recently encountered in a neonate who demonstrated its clinical and radiologic features. A single mutation in the RASA-1 gene was detected.A novel flow reduction strategy was employed to a large AVM affecting the patient’s upper limb. The imaging findings, surgical procedure and patient’s improved post-operative state are described.

Highlights

RASA-1 gene mutations present with a variety of clinical phenotypes
Parkes-Weber syndrome (PKWS) and the more recently described capillary malformation - arteriovenous malformation syndrome (CM-arteriovenous malformations (AVM)) are two such entities. The hallmarks of both PKWS and CM-AVM are the presence of fast-flow vascular malformations and capillary malformations (CM)
If capillary malformations are associated with a syndrome that incorporates a high-flow lesion such as PKWS or CM-AVM, high output heart failure may ensue

Summary

Background

RASA-1 gene mutations present with a variety of clinical phenotypes. Parkes-Weber syndrome (PKWS) and the more recently described capillary malformation - arteriovenous malformation syndrome (CM-AVM) are two such entities. Ultrasound performed on the fourth day of life revealed massive dilation of the right subclavian, axillary and brachial artery (Figure 2 A) as well as a dilated deep venous system. An MRI of the right upper extremity and chest obtained on the seventh day revealed the aneurysmal vessels, extending from the origin of the right subclavian artery to the right brachial artery. Time-resolved post contrast magnetic resonance angiography (TRICKS, General Electric) showed near-simultaneous enhancement of the right upper extremity arteries and draining dilated veins (Figure 3 A). MRI 3A) Time-resolved MR angiogram shows near simultaneous opacification of a markedly dilated right upper extremity artery ( arrow ) and vein ( curved arrows ).[3] B) T2 weighted axial sequence shows increased signal and enlargement of right upper extremity soft tissues (arrow) and large vascular flow voids (curved arrow).

Findings

Discussion

Conclusion