Rare genetic cerebrotendinous xanthomatosis (CTX) cases without cholestanol elevation but with prominent cholesterol-rich tendon xanthomas.

Cerebrotendinous xanthomatosis (CTX) is a rare inherited metabolic disease attributed to the mutation of the gene CYP27A1, resulting in sterol 27-hydroxylase deficiency characterized by deposition of cholestanol and cholesterol in several tissues, like the central nervous system and tendons. Furthermore, cataracts, gallstones, diarrhea and premature atherosclerosis have been reported. Nonetheless, clinical development is extremely heterogeneous in CTX. We report here two cases of CTX genetic alteration in the absence of cholestanol elevation in plasma and tendons but with prominent xanthomas. We propose that CTX may not be characteized by increased plasma cholestanol concentration due to alteration in the sterol 27-hydroxylase gene, but is a more complex pathology where there is significant genetic heterogeneity caused by various CYP27A1 mutations.

A novel GPIHBP1 mutation related to familial chylomicronemia syndrome: A series of cases.

BACKGROUND AND AIMS: GPIHBP1 is an accessory protein of lipoprotein lipase (LPL) essential for its functioning. Mutations in the GPIHBP1 gene cause a deficit in the action of LPL, leading to severe hypertriglyceridemia and increased risk for acute pancreatitis. METHODS: We describe twelve patients (nine women) with a novel homozygous mutation in intron 2 of the GPIHBP1 gene. RESULTS: All patients were from the Northeastern region of Brazil and presented the same homozygous variant located in a highly conserved 3' splicing acceptor site of the GPIHBP1 gene. This new variant was named c.182-1G > T, according to HGVS recommendations. We verified this new GPIHBP1 variant's effect by using the Human Splicing Finder (HSF) tool. This mutation changes the GPIHBP1 pre-mRNA processing and possibly causes the skipping of the exon 3 of the GPIHBP1 gene, affecting almost 50% of the cysteine-rich Lys6 GPIHBP1 domain. Patients presented with severe hypertriglyceridemia (2351 mg/dl [885-20600]) and low HDL (18 mg/dl [5-41). Four patients (33%) had a previous history of acute pancreatitis. CONCLUSIONS: We describe a novel GPIHBP1 pathogenic intronic mutation of patients from the Northeast region of Brazil, suggesting the occurrence of a founder effect.

Chronic and regular use of statin prevents atrial fibrillation in period after cardiac surgery.

BACKGROUND: [Corrected] Atrial fibrillation is a common complication after cardiac surgery. The previous use of statins may reduce the incidence of this arrhythmia. OBJECTIVE: To evaluate whether the chronic and regular use of statins, for a period of six months, prevents atrial fibrillation after elective cardiac surgery. METHODS: A study carried out with 107 patients that underwent cardiac surgery, including 66% of males and their mean age was 60.4 years (25 to 84). We evaluated the presence of atrial fibrillation among patients that used statins or not on a regular basis in the preoperative period. We excluded patients with urgent heart surgery, kidney failure, inflammatory diseases, previous atrial fibrillation, patients with thyroid disease and those using a permanent pacemaker. RESULTS: In the postoperative period, atrial fibrillation was present in 42 patients (39%) of the sample, including 11 (26%) people that had used statins on a regular basis in the preoperative period and 31 (74%) who had not. It was possible to observe that, in 22% of the patients that were using statin, there was no development of atrial fibrillation, while 45% of those who did not take statin had arrhythmia (ρ = 0.02). In the isolated myocardial revascularization, 47% of the patients that did not take statin and 23% of those that took statin developed atrial fibrillation ( ρ = 0.02). There was no statistically significant difference in the analysis of groups with or without statin for the presence of risk factors for the development of atrial fibrillation (ρ = 0.34). CONCLUSION: The regular use of statin, for six months or more in the preoperative period, reduced the incidence of atrial fibrillation after elective cardiac surgery.

[Left ventricular papillary fibroelastoma].

We evaluated the case of a patient with Papillary Fibroelastoma (PFE) that presented embolization to the upper right limb. The patient was submitted to percutaneous embolectomy, with fragment removal. The diagnosis was confirmed by transthoracic echocardiogram and anatomopathological analysis of the fragment. The patient chose to undergo the conservative clinical treatment and the follow-up has shown good evolution with no disease recurrence to date. We decided to use this rare and interesting case with the objective of reviewing the current literature and discuss the best therapeutic management.

Postoperative atrial fibrillation after cardiac surgery: who should receive chemoprophylaxis?

To evaluate arrhythmogenic risk factors associated with greater incidence of postoperative atrial fibrillation (POAF) in patients undergoing cardiac surgery (CABG and/or valvular surgery) in order to identify those more prone to the development of this arrhythmia for possible chemoprophylaxis. Sixty-six patients who underwent elective cardiac surgery were assessed. The following risk factors for the development of POAF were correlated: advanced age, valvular heart disease (VHD), left atrial (LA) enlargement, left ventricular dysfunction (LVD), electrolyte imbalance (EI), previous CABG, prior use and withdrawal of beta-blockers (BB) and/or digitalis 24 hours before surgery). The incidence of AF was high (47%) in our study, most frequently on the first postoperative day. Sixty-four percent of the study sample was male, and the mean age was 62 years. Among patients with two or less risk factors for AF, only 24% developed arrhythmia, while the presence of three or more risk factors was associated with increased incidence of postoperative AF (69%), (p = 0.04). Age > 65 years (58% of the patients) was the most prevalent risk factor, followed by LA enlargement in 45% (p = 0.001), and VHD in 38% (p = 0.02). The presence of three or more risk factors increases significantly the incidence of this arrhythmia in the postoperative period after cardiac surgery. Among the primary risk factors are advanced age, left atrial enlargement, and valvular heart disease.