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.

Uso crônico e regular de estatina previne fibrilação atrial no pós-operatório de cirurgia cardíaca / Chronic and regular use of statin prevents atrial fibrillation in period after cardiac surgery

FUNDAMENTO: Fibrilação atrial é uma complicação frequente no pós-operatório de cirurgia cardíaca. O uso prévio de estatinas pode reduzir a incidência dessa arritmia. OBJETIVO: Avaliar se o uso crônico e regular de estatina, por um período de seis meses, previne fibrilação atrial no pós-operatório de cirurgia cardíaca eletiva. MÉTODOS: Estudo realizado em 107 pacientes submetidos à cirurgia cardíaca, 66 por cento do sexo masculino e com idade média de 60,4 anos (25 a 84). Avaliou-se a presença de fibrilação atrial entre os pacientes que usavam ou não estatina de forma regular no pré-operatório. Foram excluídos pacientes com cirurgia cardíaca de urgência, insuficiência renal, doenças inflamatórias, fibrilação atrial prévia, portadores de tireoidopatia e aqueles em uso de marca-passo definitivo. RESULTADOS: No período pós-operatório, fibrilação atrial esteve presente em 42 pacientes (39 por cento) da amostra, sendo 11 (26 por cento) em uso regular de estatina no período pré-operatório e 31 (74 por cento) não. Observou-se que, em 22 por cento do total de pacientes em uso de estatina, não houve desenvolvimento de fibrilação atrial, enquanto 45 por cento dos que não usavam estatina apresentaram arritmia (ρ=0,02). Na revascularização miocárdica isolada, 47 por cento dos pacientes que não usavam estatina e 23 por cento dos que usavam desenvolveram fibrilação atrial (ρ =0,02). Não houve diferença estatística significativa na análise dos grupos com ou sem estatina quanto à presença dos fatores de risco para desenvolvimento de fibrilação atrial ( ρ=0,34). CONCLUSÃO: O uso regular de estatina, por seis meses ou mais no período pré-operatório, reduziu a incidência de fibrilação atrial no pós-operatório de cirurgia cardíaca eletiva.

BACKGROND: 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 percent 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 percent) of the sample, including 11 (26 percent) people that had used statins on a regular basis in the preoperative period and 31 (74 percent) who had not. It was possible to observe that, in 22 percent of the patients that were using statin, there was no development of atrial fibrillation, while 45 percent of those who did not take statin had arrhythmia (ρ = 0.02). In the isolated myocardial revascularization, 47 percent of the patients that did not take statin and 23 percent 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.

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.

Fibroelastoma papilífero do ventrículo esquerdo / Fibroelastoma papilar del ventrículo izquierdo / Left ventricular papillary fibroelastoma

Avaliamos o caso de uma paciente portadora de fibroelastoma papilífero (FEP) que apresentou embolização para membro superior direito. A paciente foi submetida à embolectomia percutânea, com retirada do fragmento. O diagnóstico foi confirmado por ecocardiograma transtorácico e exame anatomopatológico. Optou-se pelo tratamento clínico conservador e acompanhamento da paciente, que mostrou boa evolução e não teve recorrência do quadro até o momento. Aproveitamos esse raro e interessante caso na intenção de revisar a literatura vigente e discutir a melhor conduta terapêutica.

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.

Evaluamos el caso de una paciente portadora de fibroelastoma papilar (FEP) que presentó embolización para miembro superior derecho. La paciente fue sometida a embolectomía percutánea, con retirada del fragmento. El diagnóstico fue confirmado por ecocardiograma transtoracico y examen anatomopatológico. Se optó por el tratamiento clínico conservador y seguimiento de la paciente, que mostró la buena evolución y no tuvo recurrencia del cuadro hasta el momento. Aprovechamos este raro e interesante caso en la intención de revisar la literatura vigente y discutir la mejor conducta terapéutica.

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.

Fibrilação atrial no pós-operatório de cirurgia cardíaca: quem deve receber quimioprofilaxia? / Fibrilación atrial en el postoperatorio de cirugía cardiaca: ¿quién debe recibir quimioprofilaxia? / Postoperative atrial fibrillation after cardiac surgery: who should receive chemoprophylaxis?

Avaliar fatores de risco arritmogênicos associados à maior incidência de fibrilação atrial (FA) no pós-operatório (PO) de cirurgia cardíaca (revascularização miocárdica e/ou cirurgia valvar), com o intuito de selecionar os mais propensos ao desenvolvimento dessa arritmia para possível quimioprofilaxia. Avaliarem-se 66 pacientes submetidos à cirurgia cardíaca eletiva. Correlacionaram-se os principais fatores de risco (idade avançada, doença valvar (DV), aumento atrial esquerdo (AE), disfunção ventricular (DVE), distúrbio eletrolítico (DHE), cirurgia cardíaca prévia (CCP), uso prévio e suspensão de betabloqueador (B-Bloq) e/ou digital 24 horas antes da cirurgia) para o desenvolvimento de FA no PO. A incidência de FA foi elevada (47 por cento) em nossa casuística e mais freqüente no primeiro dia de PO. Dos pacientes pesquisados, 64 por cento eram do sexo masculino com idade média de 62 anos. Entre os pacientes com dois ou menos fatores de risco para FA, apenas 24 por cento desenvolveram a arritmia, enquanto a presença de três ou mais desses fatores esteve associada à sua maior incidência no PO (69 por cento), (p = 0,04). Em ordem de maior freqüência, idade > 65 anos (em 58 por cento dos pacientes) foi o fator de risco mais prevalente, seguido de aumento do AE em 45 por cento (p = 0,001) e DV em 38 por cento (p = 0,02). A presença de três ou mais fatores de risco aumenta consideravelmente a incidência dessa arritmia no PO de cirurgia cardíaca. Entre os principais fatores, destacaram-se idade avançada, aumento do AE e doença valvar.

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 percent) 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 percent developed arrhythmia, while the presence of three or more risk factors was associated with increased incidence of postoperative AF (69 percent), (p = 0.04). Age > 65 years (58 percent of the patients) was the most prevalent risk factor, followed by LA enlargement in 45 percent (p = 0.001), and VHD in 38 percent (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.

Evaluar factores de riesgo arritmogénicos asociados a la mayor incidencia de fibrilación atrial (FA) en el postoperatorio (PO) de cirugía cardiaca (revascularización miocárdica y/o cirugía valvular), con el intuito de seleccionar los más propensos al desarrollo de esa arritmia para posible quimioprofilaxia. Se evaluaron a 66 pacientes sometidos a la cirugía cardiaca electiva. Se correlacionaron los principales factores de riesgo (edad avanzada, enfermedad valvar (DV), aumento atrial izquierdo (AE), disfunción ventricular (DVE), disturbio electrolítico (DHE), cirugía cardiaca previa (CCP), uso previo y suspensión de betabloqueante (B-Bloq) y/o digital 24 horas antes de la cirugía) para el desarrollo de FA en el PO. La incidencia de FA se mostró elevada (47 por ciento) en nuestra casuística y más frecuente al primer día de PO. De todos los pacientes investigados, el 64 por ciento pertenecían al sexo masculino con edad promedio de 62 años. Entre los pacientes con dos o menos factores de riesgo para FA, sólo el 24 por ciento desarrollaron la arritmia, mientras que la presencia de tres o más de esos factores estuvo asociada a su mayor incidencia en el PO (69 por ciento), (p = 0,04). Por orden de mayor frecuencia, edad > 65 años (en el 58 por ciento de los pacientes) resultó el factor de riesgo más prevalente, seguido de aumento del AE en el 45 por ciento (p = 0,001) y DV en el 38 por ciento (p = 0,02). La presencia de tres o más factores de riesgo aumenta considerablemente la incidencia de esa arritmia en el PO de cirugía cardiaca. Entre los principales factores, se destacaron: edad avanzada, aumento de AE y enfermedad valvular.

Prevention of atrial fibrillation with moderate doses of amiodarone in the postoperative period of cardiac surgery is safe and effective in patients with high risk for developing this arrhythmia.

OBJECTIVE: To assess if prophylaxis with moderate doses of amiodarone in the postoperative period of cardiac surgery (coronary artery bypass grafting and/or valve surgery), reduces the incidence of atrial fibrillation in patients with high risk for developing this arrhythmia. METHODS: A randomized and prospective clinical study involving 68 patients who underwent elective cardiac surgery. Mean age was 64 years and 59% of participants were males. Patients with three or more risk factors for atrial fibrillation, according to the literature, were randomized into two groups to receive or not prophylaxis with amiodarone in the first postoperative day. The dose administered ranged from 600 mg/day to 900 mg/day, intravenously, on the first postoperative day, followed by 400 mg/day orally until hospital discharge or until completing seven days. The other patients, who presented two or fewer risk factors, were followed up until hospital discharge. All patients were evaluated by means of cardiac and/or electrocardiographic monitoring. RESULTS: In the group treated with amiodarone, 7% of patients presented atrial fibrillation, whereas in the control group 70% of patients developed arrhythmia. Among the non-randomized individuals (with two or fewer risk factors), only 24% presented atrial fibrillation. CONCLUSION: The prophylactic use of amiodarone was effective in the prevention of atrial fibrillation in patients with three or more risk factors for this arrhythmia. This treatment can be useful to reduce stay at the Intensive Care Unit and, consequently, the complications originating from longer hospitalization.