Klippel-Trenaunay Syndrome (KTS) is a rare cutaneous vascular malformation syndrome involving capillary, venous, and lymphatic malformations often involving a unilateral lower limb. Patients with KTS can also have disease involvement of the gastrointestinal (GI) tract, predisoposing patients to GI bleeding. Here, we present a case of a 15-year-old male with known congenital Klippel-Trenaunay Syndrome involving the left lower extremity presenting with acutely worsening rectal bleeding. The patient presented with two weeks of rectal bleeding, fatigue, and weakness. On initial evaluation, the patient was found to have acute drop in hemoglobin concerning for active GI bleeding. Initial imaging included a tagged red blood cell scan, which demonstrated diffuse increased radiotracer activity along the left hemiabdomen, consistent with active bleed. However, the etiology/source of bleeding at this time could not be determined due to the extensive abdominal involvement. Further evaluation included CT angiography of the abdomen and pelvis, which revealed a large, extensive venous malformation extending throughout the wall of the descending and rectosigmoid colon, with venous malformation extending throughout the left lateral pelvic musculature. Arterial phase imaging demonstrated abnormal enhancement of the mucosa of the descending and rectosigmoid colon, and venous phase imaging demonstrated contrast blushing throughout the descending colon concerning for active bleeding, without clear identifiable source. Due to decline in clinical status and refractory anemia requiring massive transfusion, the patient was evaluated surgically and subsequently underwent emergent colectomy and left lower quadrant ostomy placement. Intraoperative findings demonstrated a massively dilated sigmoid colon with complex tangle of cavernous venous malformations involving approximately two feet of bowel. In setting of a technically challenging operation, the patient’s post-operative course has been complicated by rectal stump dehiscence, multiple pelvic abscesses, and guarded prognosis. In summary, KTS is a rare syndrome involving extensive capillary, lymphatic, and venous malformations, with gastrointestinal involvement predisposing patients to potential life-threating GI bleeding. Here we review a case of a 15-year-old male with KTS presenting with refractory GI bleeding in an extensive colonic vascular malformation necessitating emergent colectomy. Read More

Meeting name: SPR 2025 Annual Meeting , 2025

Authors: Stecher Priscilla, Ordonez Alvaro, Noor Abass

Keywords: Klippel-Trenaunay Syndrome, Venous Malformation, Rectal Bleeding

Single ventricle heart defects (SVHD) refer to a rare and diverse group of severe congenital cardiac abnormalities in which the systemic and pulmonary venous return enter a functionally single ventricular chamber. This condition is typically caused by underdevelopment of an atrioventricular valve and/or a ventricular chamber, leading to a range of complex congenital heart defects. With an incidence of approximately 3 to 5 per 10,000 live births, newborns with SVHD are critically ill, and without medical intervention, the condition is fatal. Advancements in surgical techniques, namely staged palliation and orthotopic heart transplantation, have enabled more patients with SVHD to survive into adulthood. However, despite these improvements, the perinatal period remains tenuous. We present a five-week-old male infant born at 38 weeks of gestation with a functional SVHD in the form of severe subaortic stenosis, arcade-like mitral valve, left ventricular dilation and dysfunction, and restrictive atrial septum. He received multiple surgical interventions, including atrial septal stenting with pulmonary artery banding and stage I reconstruction with a right Blalock-Thomas-Taussig shunt. Postoperative course was complicated by delayed sternal closure, cardiac arrest, right hemidiaphragm plication, and progressive heart failure. At five weeks, CT angiography showed a functional single ventricle status post Damus-Kaye-Stansel anastomosis, hypoperfusion of the left ventricle myocardium, and pneumoperitoneum. Exploratory laparotomy with segmental bowel resection revealed perforated acute appendicitis and mucosal ulceration of the cecum. Following the procedure, he developed acute hypoxemia and bradycardia. Life-sustaining support was withdrawn. Postmortem examination of the heart was notable for severe aortic stenosis with subaortic obstruction, stenotic mitral valve with arcade-like fibrous plaques, and biventricular hypertrophy. Histopathology of the left ventricle showed significant subendocardial fibrosis without areas of myocyte injury. Due to the complexities involved in its management, SVHD demands special attention from radiologists. While advancements in medical and surgical care have improved outcomes, ongoing progress depends on a deeper understanding of the factors contributing to ventricular dysfunction and heart failure in this vulnerable population. Read More

Meeting name: SPR 2025 Annual Meeting , 2025

Authors: Ordonez Alvaro, Stecher Priscilla, Rogers Lindsay, Bhatti Tricia, Noor Abass

Keywords: Ventricular Dysfunction, Cardiac CTA, Cardiovascular Disease