ABSTRACT
Osteogenesis imperfecta (OI) type VI is a rare inherited disorder of the connective tissue caused by pathogenic variants in SERPINF1 gene, which encodes the pigment epithelium-derived factor (PEDF). PEDF is implicated in many biologic processes, including an anti-cancer role. This information is supported by in vitro and in vivo studies that evidenced its anti-angiogenic, anti-tumorigenic, and anti-metastatic properties. Although OI is related to skeletal changes such as bone fragility and deformities, as well as to other connective tissue defects, it does not represent a greater predisposition to the development of skeletal tumors. Here, we report on an adult with OI in which a deletion in exon 8 of the SERPINF1 gene (c.1152_1170del; p.384_390del) was identified. The patient presented popcorn calcification in both femoral epiphyses, but one of them presented radiological characteristics and evolution suspected of malignancy. Later, it was diagnosed as chondrosarcoma. This paper discusses that OI type VI patients may be at risk of developing some types of cancer.
Subject(s)
Bone Neoplasms , Chondrosarcoma , Osteogenesis Imperfecta , Adult , Humans , Osteogenesis Imperfecta/genetics , Osteogenesis Imperfecta/diagnosis , Chondrosarcoma/genetics , Genotype , Exons , Bone Neoplasms/genetics , MutationABSTRACT
Background: According to some international studies, patients with acute coronary syndrome (ACS) and increased left atrial volume index (LAVI) have worse long-term prognosis. However, national Brazilian studies confirming this prediction are still lacking. Objective: To evaluate LAVI as a predictor of major cardiovascular events (MCE) in patients with ACS during a 365-day follow-up. Methods: Prospective cohort of 171 patients diagnosed with ACS whose LAVI was calculated within 48 hours after hospital admission. According to LAVI, two groups were categorized: normal LAVI (≤ 32 mL/m2) and increased LAVI (> 32 mL/m2). Both groups were compared regarding clinical and echocardiographic characteristics, in- and out-of-hospital outcomes, and occurrence of ECM in up to 365 days. Results: Increased LAVI was observed in 78 patients (45%), and was associated with older age, higher body mass index, hypertension, history of myocardial infarction and previous angioplasty, and lower creatinine clearance and ejection fraction. During hospitalization, acute pulmonary edema was more frequent in patients with increased LAVI (14.1% vs. 4.3%, p = 0.024). After discharge, the occurrence of combined outcome for MCE was higher (p = 0.001) in the group with increased LAVI (26%) as compared to the normal LAVI group (7%) [RR (95% CI) = 3.46 (1.54-7.73) vs. 0.80 (0.69-0.92)]. After Cox regression, increased LAVI increased the probability of MCE (HR = 3.08, 95% CI = 1.28-7.40, p = 0.012). Conclusion: Increased LAVI is an important predictor of MCE in a one-year follow-up. .
Fundamento: Portadores de síndrome coronária aguda (SCA) com aumento do índice de volume atrial esquerdo (IVAE) apresentam pior prognóstico em longo prazo segundo alguns estudos internacionais. Todavia, há carência de estudos nacionais ratificando esta predição. Objetivo: Avaliar o IVAE como preditor de evento cardiovascular maior (ECM) em seguimento tardio de pacientes com SCA. Métodos: Coorte prospectiva de 171 pacientes com diagnóstico de SCA e com IVAE calculado dentro de 48 horas após evento índice. Portadores de IVAE normal (≤ 32 ml/m2) e de IVAE aumentado (> 32 ml/m2) foram comparados quanto às características clínicas e ecocardiográficas, evolução intra e extra-hospitalar e ocorrência, em até 365 dias, de ECM. Resultados: Um total de 78 pacientes (45%) apresentaram IVAE > 32 ml/m2. Ocorreu associação entre IVAE aumentado e maior idade, índice de massa corpórea, hipertensão arterial, história de infarto agudo do miocárdio e angioplastia prévia, assim como menor clearance de creatinina e fração de ejeção. Na evolução hospitalar, o edema agudo de pulmão foi mais frequente em pacientes com IVAE aumentado (14,1% vs. 4,3%, p = 0,024). Após a alta hospitalar, a ocorrência do desfecho composto para ECM foi significativamente superior (p = 0,001) no grupo com IVAE aumentado (26%) quando comparado ao grupo de IVAE normal (7%) [RR (IC 95%) = 3,46 (1,54-7,73) vs. 0,80 (0,69-0,92)]. Na regressão de Cox, IVAE aumentado elevou a probabilidade de ECM (HR = 3,08; IC 95% = 1,28-7,40; p = 0,012). Conclusão: O aumento do IVAE é importante preditor de ECM em um ano de seguimento. .
Subject(s)
Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Acute Coronary Syndrome/physiopathology , Atrial Function, Left/physiology , Cardiac Volume/physiology , Acute Coronary Syndrome/mortality , Acute Coronary Syndrome/therapy , Echocardiography , Follow-Up Studies , Heart Atria/physiopathology , Kaplan-Meier Estimate , Prognosis , Prospective Studies , Registries , Risk Assessment , Risk Factors , Statistics, Nonparametric , Time Factors , Treatment Outcome , Ventricular Dysfunction, Left/physiopathologyABSTRACT
BACKGROUND: According to some international studies, patients with acute coronary syndrome (ACS) and increased left atrial volume index (LAVI) have worse long-term prognosis. However, national Brazilian studies confirming this prediction are still lacking. OBJECTIVE: To evaluate LAVI as a predictor of major cardiovascular events (MCE) in patients with ACS during a 365-day follow-up. METHODS: Prospective cohort of 171 patients diagnosed with ACS whose LAVI was calculated within 48 hours after hospital admission. According to LAVI, two groups were categorized: normal LAVI (≤ 32 mL/m2) and increased LAVI (> 32 mL/m2). Both groups were compared regarding clinical and echocardiographic characteristics, in- and out-of-hospital outcomes, and occurrence of ECM in up to 365 days. RESULTS: Increased LAVI was observed in 78 patients (45%), and was associated with older age, higher body mass index, hypertension, history of myocardial infarction and previous angioplasty, and lower creatinine clearance and ejection fraction. During hospitalization, acute pulmonary edema was more frequent in patients with increased LAVI (14.1% vs. 4.3%, p = 0.024). After discharge, the occurrence of combined outcome for MCE was higher (p = 0.001) in the group with increased LAVI (26%) as compared to the normal LAVI group (7%) [RR (95% CI) = 3.46 (1.54-7.73) vs. 0.80 (0.69-0.92)]. After Cox regression, increased LAVI increased the probability of MCE (HR = 3.08, 95% CI = 1.28-7.40, p = 0.012). CONCLUSION: Increased LAVI is an important predictor of MCE in a one-year follow-up.
Subject(s)
Acute Coronary Syndrome/physiopathology , Atrial Function, Left/physiology , Cardiac Volume/physiology , Acute Coronary Syndrome/mortality , Acute Coronary Syndrome/therapy , Aged , Aged, 80 and over , Echocardiography , Female , Follow-Up Studies , Heart Atria/physiopathology , Humans , Kaplan-Meier Estimate , Male , Middle Aged , Prognosis , Prospective Studies , Registries , Risk Assessment , Risk Factors , Statistics, Nonparametric , Time Factors , Treatment Outcome , Ventricular Dysfunction, Left/physiopathologyABSTRACT
FUNDAMENTO: Apesar das inúmeras evidências de aumento da morbimortalidade, a incompetência cronotrópica (IC) ainda não é um diagnóstico rotineiro e bem definido nos protocolos de avaliação cardiológica e sua importância clínica ainda é subestimada. OBJETIVO: Avaliar os parâmetros clínicos e ecocardiográficos associados à IC em pacientes não idosos submetidos à ecocardiografia sob estresse físico (EEF). MÉTODOS: Foram avaliados 1.798 pacientes com idade média de 48,4 ± 7,5 anos submetidos à EEF entre Janeiro/2000 e Agosto/2009. Pacientes com índice cronotrópico menor que 0,8 foram considerados incompetentes cronotrópicos e comparados aos competentes quanto às características clínicas e ecocardiográficas. RESULTADOS: A duração do esforço físico foi em média de 9,3 ± 2,4 minutos. Duzentos e setenta (15%) pacientes eram incompetentes cronotrópicos. O índice cronotrópico de tal grupo foi de 0,7 ± 0,1 vs. 1,0 ± 0,1 para os competentes. A análise de regressão logística multivariada identificou os seguintes parâmetros como independentemente associados à IC: dispneia no exame [odds ratio (OR) = 4,27; p < 0,0001], dor torácica prévia na história clínica (OR = 1,51; p = 0,0111), maiores valores de índice de massa do ventrículo esquerdo nos incompetentes (IMVE) (OR = 1,16; p = 0,0001), equivalentes metabólicos (METs) (OR = 0,70; p = 0,0001), infradesnivelamento do segmento ST (OR = 0,58; p = 0,0003) e elevação da pressão arterial sistólica (ΔPAS) (OR = 0,87; p = 0,0011). Isquemia miocárdica não se associou à IC. CONCLUSÃO: A IC está associada a parâmetros funcionais, tais como: dispneia ao esforço, história de dor torácica e menores valores de METS. Está também associada ao parâmetro estrutural índice de massa do ventrículo esquerdo. Além disso, incompetência cronotrópica não parece aumentar a chance de isquemia miocárdica em pacientes não idosos. (Arq Bras Cardiol. 2012; [online].ahead print, PP.0-0).
BACKGROUND: Despite abundant evidence of increased morbidity and mortality, chronotropic incompetence (CI) is not a routine diagnosis well defined in protocols of cardiac evaluation and its clinical importance is still underestimated. OBJECTIVE: To evaluate the clinical and echocardiographic parameters associated with HF in non-elderly patients submitted to stress echocardiography (SE). METHODS: One thousand seven hundred ninety-eight patients with a mean age of 48.4 ± 7.5 years, who underwent SE between January/2000 and August/2009 were evaluated. Patients with chronotropic index smaller than 0.8 were considered chronotropic incompetent as compared to competent patients as to clinical and echocardiographic characteristics. RESULTS: The duration of the exercise was 9.3 ± 2.4 minutes on average. Two hundred and seventy (15%) patients were chronotropic incompetent. The chronotropic index of this group was 0.7 ± 0.1 vs. 1.0 ± 0.1 for competent patients. Multivariate logistic regression analysis identified the following parameters as independently associated with HF: dyspnea on examination [odds ratio (OR) = 4.27, p <0.0001], previous chest pain on medical history (OR = 1.51; p = 0.0111), higher left ventricular mass rate in incompetent patients (LVMI) (OR = 1.16, p = 0.0001), metabolic equivalents (METs) (OR = 0.70, p = 0 , 0001), ST segment depression (OR = 0.58, p = 0.0003) and high systolic blood pressure (ΔSBP) (OR = 0.87, p = 0.0011). Myocardial ischemia was not associated with HF. CONCLUSION: HF is associated with functional parameters, such as dyspnea on exertion, history of chest pain and lower METS. It is also associated with structural benchmark index of left ventricular mass. In addition, chronotropic incompetence does not appear to increase the chance of myocardial ischemia in non-elderly patients. (Arq Bras Cardiol. 2012; [online].ahead print, PP.0-0).
Subject(s)
Adult , Female , Humans , Middle Aged , Young Adult , Echocardiography, Stress/methods , Heart Rate/physiology , Ventricular Dysfunction, Left , Blood Pressure/physiology , Epidemiologic Methods , Exercise Test , Exercise Tolerance , Myocardial Ischemia/diagnosis , Myocardial Ischemia/physiopathology , Reference Values , Time Factors , Ventricular Dysfunction, Left/physiopathologyABSTRACT
BACKGROUND: Despite abundant evidence of increased morbidity and mortality, chronotropic incompetence (CI) is not a routine diagnosis well defined in protocols of cardiac evaluation and its clinical importance is still underestimated. OBJECTIVE: To evaluate the clinical and echocardiographic parameters associated with HF in non-elderly patients submitted to stress echocardiography (SE). METHODS: One thousand seven hundred ninety-eight patients with a mean age of 48.4 ± 7.5 years, who underwent SE between January/2000 and August/2009 were evaluated. Patients with chronotropic index smaller than 0.8 were considered chronotropic incompetent as compared to competent patients as to clinical and echocardiographic characteristics. RESULTS: The duration of the exercise was 9.3 ± 2.4 minutes on average. Two hundred and seventy (15%) patients were chronotropic incompetent. The chronotropic index of this group was 0.7 ± 0.1 vs. 1.0 ± 0.1 for competent patients. Multivariate logistic regression analysis identified the following parameters as independently associated with HF: dyspnea on examination [odds ratio (OR) = 4.27, p <0.0001], previous chest pain on medical history (OR = 1.51; p = 0.0111), higher left ventricular mass rate in incompetent patients (LVMI) (OR = 1.16, p = 0.0001), metabolic equivalents (METs) (OR = 0.70, p = 0 , 0001), ST segment depression (OR = 0.58, p = 0.0003) and high systolic blood pressure (ΔSBP) (OR = 0.87, p = 0.0011). Myocardial ischemia was not associated with HF. CONCLUSION: HF is associated with functional parameters, such as dyspnea on exertion, history of chest pain and lower METS. It is also associated with structural benchmark index of left ventricular mass. In addition, chronotropic incompetence does not appear to increase the chance of myocardial ischemia in non-elderly patients.