OBJECTIVEThe gamma(2) subunit of AMP-activated protein kinase (PRKAG2) located in chromosome 7 plays an important role in regulating metabolic pathways, and patients with PRKAG2 mutations are associated with familial ventricular pre-excitation, hypertrophic cardiomyopathy and AV block. We observed the difference on the phenotypes in a large family with same PRKAG2 mutation.

METHODDirect DNA sequence was performed to screen the exons and exon-intron boundaries of PRKAG2 gene in a large family with 13 affected persons detected by electrocardiography (ECG).

RESULTSSinus bradycardia, short PR interval, right bundle bunch block (RBBB), complete AV block, atrial flutter, atrial fibrillation and sudden cardiac death were identified in this family. Hypertrophic cardiomyopathy was found in one family member. Genetic analysis revealed a missense mutation (Arg302Glu) in all affected family members. This mutation was previous described in patients with Wolff-Parkinson-White (WPW) syndrome and hypertrophic cardiomyopathy.

CONCLUSIONSBesides WPW syndrome and hypertrophic cardiomyopathy, PRKAG2 mutations are responsible also for a diverse phenotypes. PRKAG2 gene mutation should be suspected with familial occurrence of RBBB, sinus bradycardia, and short PR interval.

AMP-Activated Protein Kinases ; genetics ; Arrhythmias, Cardiac ; genetics ; Brazil ; Female ; Genotype ; Humans ; Male ; Mutation ; Pedigree ; Phenotype ; Pre-Excitation Syndromes ; etiology

Background: Cytoreductive surgery was developed as a treatment for peritoneal carcinomatosis. However, this surgery is associated with important complications. The present study aimed to assess the relationship between lactacidemia and the rate of associated complications during the immediate postoperative period in the intensive care unit (ICU) in patients undergoing cytoreductive surgery. Methods: This was a retrospective observational study. A total of 57 patients underwent cytoreductive surgery. All patients were admitted to the ICU immediately after the surgery. Data on lactic acid levels at the time of admission and discharge from the ICU were collected. Postsurgical complications that occurred during the ICU stay were recorded according to failure-to-rescue analysis and their severity stratified according to the Clavien-Dindo classification. Results: The lactic acid levels at admission to the ICU were significantly higher in patients who developed complications, with an almost tripled unadjusted relative risk (2.9, 95% CI: 1.6, 5.3), than in those who did not develop complications for the lactacidemia threshold established in the cumulative sum curve graphs. After adjustment for confounding effects, the relative risk became even higher (3.1, 95% CI: 1.8, 3.6). Lactic acid levels were still significantly higher in this group at the time of discharge from the ICU. Conclusions Serum lactate level is a risk factor for postoperative complications in patients undergoing cytoreductive surgery for peritoneal carcinomatosis. This study suggests that the risk of developing severe complications almost triples with a lactic acid level of 2.5 mmol/L or higher at the time of admission in the ICU.