Contributions of Germline and Somatic Mosaic Genetics to Thoracic Aortic Aneurysms in Nonsyndromic Individuals.

Background: Thoracic aortic aneurysm (TAA) is associated with significant morbidity and mortality. Although individuals with family histories of TAA often undergo clinical molecular genetic testing, adults with nonsyndromic TAA are not typically evaluated for genetic causes. We sought to understand the genetic contribution of both germline and somatic mosaic variants in a cohort of adult individuals with nonsyndromic TAA at a single center.

Prognostic Value of Exercise Stress Echocardiography in Pediatric Cardiac Transplant Recipients.

Background: Cardiac allograft vasculopathy (CAV) is a leading cause of long-term morbidity and mortality in pediatric heart transplant (HTx) recipients. Exercise stress echocardiography (ESE) has been shown to be useful in the detection of angiographically confirmed coronary artery disease in children. However, the prognostic utility of ESE for prediction of cardiac events in HTx survivors is unknown.

Déjà Vu: Recurrent Sudden Cardiac Arrests in a Child With an Anomalous Left Coronary Artery.

Sudden cardiac arrest from anomalous coronary artery from the opposite sinus of Valsalva is rarely observed in children under 10 years of age. We report a 7-week-old infant with a brief resolved unexplained event from left anomalous aortic origin of a coronary artery who underwent unroofing and again developed syncope at 8 years of age. Ischemia was detected by stress echocardiography both times.

Growth hormone-mediated janus associated kinase-signal transducers and activators of transcription signaling in the growth hormone-resistant potassium-deficient rat.

Potassium deficiency (KD) is associated with severe growth failure, in part caused by growth hormone (GH) resistance. This study set out to determine whether the resistance could be caused by a defect in GH-mediated janus associated kinase-signal transducers and activators of transcription (STAT) signaling as occurs in uremia. To this end, rats were fed a K-deficient diet for 8 d and pair-fed controls received a K-replete diet.