Bowel obstruction due to retained intraperitoneal left ventricular assist device (LVAD) driveline.

BACKGROUND: Left ventricular assist devices (LVAD) provide a lifesaving bridge to cardiac transplant. Utilization of these devices is increasing in the United States. When a patient undergoes cardiac transplant, the left ventricular device is surgically removed and the driveline is extracted or left tunneled in the subcutaneous tissue. Our group encountered a rare and previously unreported complication of this device: intraperitoneal infiltration of a retained driveline after cardiac transplant causing a small bowel obstruction. CASE PRESENTATION: A 62 year old male with a past medical history of non-ischemic cardiomyopathy induced heart failure, status post bridging left ventricular assist device and orthotopic heart transplant presented with abdominal distention, tenderness, and leukocytosis six days post-transplant. CT abdomen and pelvis revealed dilated loops of bowel, air-fluid levels and a transition point in the proximal small bowel. The patient was diagnosed with small bowel obstruction and taken for exploratory laparotomy. He was found to have a retained intraabdominal LVAD driveline strangulating a loop of small bowel in the left upper quadrant. The driveline was removed and the section of bowel released with return of perfusion. CONCLUSIONS: We had encountered a rare complication of retained left ventricular assist device driveline after cardiac transplant: inadvertent penetration into the peritoneal cavity resulting in strangulation of small bowel. This complication, though uncommon, provides substantial risk to patients previously treated with left ventricular assist devices. Meticulous care must be taken to ensure proper device insertion and extraction, as well as consideration of this etiology when patients present with bowel obstruction after cardiac transplant.

Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.

IMPORTANCE: E-cadherin (CDH1) is a cancer predisposition gene mutated in families meeting clinically defined hereditary diffuse gastric cancer (HDGC). Reliable estimates of cancer risk and spectrum in germline mutation carriers are essential for management. For families without CDH1 mutations, genetic-based risk stratification has not been possible, resulting in limited clinical options. OBJECTIVES: To derive accurate estimates of gastric and breast cancer risks in CDH1 mutation carriers and determine if germline mutations in other genes are associated with HDGC. DESIGN, SETTING, AND PARTICIPANTS: Testing for CDH1 germline mutations was performed on 183 index cases meeting clinical criteria for HDGC. Penetrance was derived from 75 mutation-positive families from within this and other cohorts, comprising 3858 probands (353 with gastric cancer and 89 with breast cancer). Germline DNA from 144 HDGC probands lacking CDH1 mutations was screened using multiplexed targeted sequencing for 55 cancer-associated genes. MAIN OUTCOMES AND MEASURES: Accurate estimates of gastric and breast cancer risks in CDH1 mutation carriers and the relative contribution of other cancer predisposition genes in familial gastric cancers. RESULTS: Thirty-one distinct pathogenic CDH1 mutations (14 novel) were identified in 34 of 183 index cases (19%). By the age of 80 years, the cumulative incidence of gastric cancer was 70% (95% CI, 59%-80%) for males and 56% (95% CI, 44%-69%) for females, and the risk of breast cancer for females was 42% (95% CI, 23%-68%). In CDH1 mutation-negative index cases, candidate mutations were identified in 16 of 144 probands (11%), including mutations within genes of high and moderate penetrance: CTNNA1, BRCA2, STK11, SDHB, PRSS1, ATM, MSR1, and PALB2. CONCLUSIONS AND RELEVANCE: This is the largest reported series of CDH1 mutation carriers, providing more precise estimates of age-associated risks of gastric and breast cancer that will improve counseling of unaffected carriers. In HDGC families lacking CDH1 mutations, testing of CTNNA1 and other tumor suppressor genes should be considered. Clinically defined HDGC families can harbor mutations in genes (ie, BRCA2) with different clinical ramifications from CDH1. Therefore, we propose that HDGC syndrome may be best defined by mutations in CDH1 and closely related genes, rather than through clinical criteria that capture families with heterogeneous susceptibility profiles.