Unusual Longevity of Edwards Syndrome: A Case Report.

BACKGROUND: Trisomy 18, also known as Edwards syndrome, was first described in the 1960s and is now defined as the second most common trisomy. While this genetic disease has been attributed to nondisjunction during meiosis, the exact mechanism remains unknown. Trisomy 18 is associated with a significantly increased mortality rate of about 5-10% of patients surviving until 1 year of age. We present a case of a 26-year-old female diagnosed with trisomy 18, well outliving her life expectancy, maintaining a stable state of health. CASE PRESENTATION: A 26-year-old female with non-mosaic Edwards syndrome presented to the clinic for follow up after recent hospitalization for aspiration pneumonia. The definitive diagnosis of trisomy 18 was made prenatally utilizing chromosomal analysis and G-banding and fluorescence in situ hybridization (FISH) on cells obtained via amniocentesis. Her past medical history is characterized by severe growth and intellectual limitations; recurrent history of infections, especially respiratory system infections; and a ventricular septal defect (VSD) that was never surgically repaired. She remains in good, stable health and is under close follow-up and monitoring. CONCLUSIONS: Despite the fact that Edwards syndrome carries a significantly high mortality rate due to several comorbidities, recent literature including this case report has identified patients surviving into adulthood. Advancements in early detection and parent education have likely allowed for these findings. We aim to present a case of an adult with trisomy 18, living in stable condition, with an importance on medical follow-up.

Subcutaneous defibrillators for dialysis patients.

Defibrillation can be successfully provided by the subcutaneous implantable cardioverter defibrillator (ICD) without the leads. In contrast, traditional ICDs require leads that can cause central venous stenosis, lead-induced endocarditis, and carry the risk of tricuspid regurgitation by valve adhesion, perforation, coaptation interference, or entanglement. Central venous stenosis, infection, and tricuspid regurgitation are all critically important considerations in hemodialysis patients. Recent reports are supporting the use of subcutaneous ICDs in renal patients maintained on long-term hemodialysis. This article provides the risks associated with leads of traditional defibrillators and raises awareness of the subcutaneous ICD and their benefits for hemodialysis patients.