Novel mutation in ENG gene causing Hereditary Hemorrhagic Telangiectasia in a Peruvian family.

Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disorder of vascular development. Common manifestations include epistaxis, telangiectasias and arteriovenous malformations (AVMs) in multiple organs. Most patients have deletions or missense mutations in the ENG or ACVRL1 gene respectively, significantly affecting endothelium homeostasis. We analyzed the ENG gene in five members of a Peruvian family affected by HHT. One novel mutation was found in exon four of the ENG gene c.408delA, at aminoacid residue 136. This mutation changes the subsequent reading frame producing an early stop at residue 162, preserving only one fourth of the normal protein of 658 aa. This mutation was found in the four affected members of family.

Síndrome de vena cava superior por trombosis de catéter venoso central / Superior vena cava syndrome for thrombosis the central venous catheter

El síndrome de vena cava superior es una entidad infrecuente. La etiología neoplásica es la de mayor prevalencia, también la relacionada a los procedimientos invasivos con catéter venosos centrales. Masculino, 32 años, consulta al servicio de emergencias por cianosis facial súbita, opresión en rostro, tos seca, odinofagia, disfonía, vértigos; no refiere disnea. Neoplasia de colón desde 2019, con colostomía y catéter Port subclavio izquierdo. Al examen: edema en esclavina, cianosis central, petequias múltiples, sangrado ungueal en manos. Angiotomografia muestra defecto de llenado por trombosis reciente en venas yugular interna y braquiocefálica izquierdas, braquiocefálica derecha, arco de la ácigos y cava superior en toda su luz. La tromboaspiración mecánica quirúrgica permitió la resección del trombo y restitución de la circulación, con relativa seguridad y baja mortalidad.

Superior vena cava syndrome is a rare entity. The neoplastic etiology is the most relevant, as well as that related to invasive procedures with central venous catheter. A 32-year-old man consults the Emergency Department for sudden facial cyanosis, facial tightness, dry cough, odynophagia, dysphonia and vertigo without dyspnea. He presents colon neoplasia since 2019, with colostomy and left subclavian Port-catheter. At examination, facial and upper extremity edema, central cyanosis, multiple petechiae and nail bleeding on the hands. The angiotomography shows filling defect fort recent thrombosis in left internal jugular and brachiocephalic vein, right brachiocephalic vein, arch of the azygos vein and superior vena cava in its entire lumen. The surgical mechanical thromboaspiration allowed resection of the thrombus and restitution of circulation, with relative safety and low mortality.