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Cystic partially differentiated nephroblastoma is a rare renal tumor of childhood. It is part of a spectrum of multicystic renal tumors that also includes cystic nephroma and cystic Wilms' tumor. We present a case of cystic partially differentiated nephroblastoma, highlighting the clinical and imaging diagnostic challenge. Although the histological diagnostic criteria for all these 3 entities are well established, they are clinically and radiologically indistinguishable. Cystic partially differentiated nephroblastoma is often observed in male children under 2 years old. Typical clinical presentations include abdominal masses, abdominal pain and/or hematuria. Patients should be treated according to tumor histology and stage.
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AIMS: To correlate differences in estradiol levels in serum and follicular fluid with genetic variants and to determine if they play a role in the results following assisted reproductive technology (ART). PATIENTS AND METHODS: A cross-sectional study was developed at the Ideia Fértil Institute of Reproductive Health. Two hundred two female patients were selected and underwent controlled ovarian hyperstimulation cycles. Patients for this study were chosen based on their male partners' infertility. Genotypes of selected variants of CYP19A1, CYP17A1, HSD17, and COMT were compared to the estradiol measurements from follicular fluid and serum, as well as to the number and maturation status of the oocytes retrieved. RESULTS: Patients with the variant homozygous genotype AA of CYP19A1 (rs10046) showed increased serum concentrations of estradiol when compared to patients with other genotypes (p = 0.005). The same polymorphism effect was not observed in follicular fluid. This CYP19A1 variant did not affect the number of oocytes recovered nor their maturation level. CONCLUSION: The CYP19A1 variant is associated with an estradiol imbalance in serum. Other pathways, however, may contribute to the formation of the final estradiol metabolite in follicular fluid as well as its impact on the oocyte maturation.
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Aromatasa/genética , Estradiol/genética , Adulto , Alelos , Aromatasa/metabolismo , Catecol O-Metiltransferasa/genética , Catecol O-Metiltransferasa/metabolismo , Estudios Transversales , Estradiol/análisis , Estradiol/sangre , Estradiol Deshidrogenasas/genética , Estradiol Deshidrogenasas/metabolismo , Femenino , Fertilización In Vitro/métodos , Hormona Folículo Estimulante/sangre , Hormona Folículo Estimulante/metabolismo , Líquido Folicular , Frecuencia de los Genes/genética , Genotipo , Humanos , Hormona Luteinizante/metabolismo , Recuperación del Oocito/métodos , Inducción de la Ovulación/métodos , Esteroide 17-alfa-Hidroxilasa/genética , Esteroide 17-alfa-Hidroxilasa/metabolismo , Adulto JovenRESUMEN
ABSTRACT Objective: To evaluate the frequency of polymorphisms in the vascular endothelial growth factor (VEGF) gene, as well as to identify a potential risk haplotype among the polymorphic regions in this gene in patients with disc degeneration and in the Control Group. Methods: This study analyzed a total of 217 individuals distributed into the Disc Degeneration and Control Groups. Peripheral blood was collected from all patients to detect VEGF gene polymorphisms identified by qPCR (rs699947, rs1570360, rs2010963, rs833061 and rs3025039). All patients presenting disc degeneration had the confirmation by nuclear magnetic resonance test and were rated according to disc degeneration level. Results: All polymorphisms were in Hardy- Weinberg equilibrium (p>0.05) in the studied population. The genotypic frequency for Disc Degeneration and Control Group were rs699947 p = 0.475, rs1570360 p = 0.862, rs2010963 p = 0.823, rs833061 p=0.596 and rs3025039 p=0.230. In haplotype analysis, the compositions CAGGC (p=0.094) and CCGGC (p=0.054) stood out. Conclusion: The correlation between VEGF gene polymorphism as a risk predictor for disc degeneration was negative in the studied population. However, the VEGF gene has a large polymorphic region, and it is activated by various catabolic and metabolic factors in the disc degeneration process, which has not been fully elucidated.
RESUMO Objetivo: Avaliar a frequência dos polimorfismos no gene fator de crescimento endotelial vascular (VEGF), bem como identificar potencial haplótipo de risco entre as regiões polimórficas deste gene em pacientes com degeneração discal e em Grupo Controle. Métodos: Este estudo analisou 217 pacientes distribuídos nos Grupos Degeneração Discal e Grupo Controle. Foi coletado sangue periférico de todos os pacientes para a detecção dos polimorfismos do gene VEGF identificados por qPCR (rs699947, rs1570360, rs2010963, rs833061 e rs3025039). Todos os pacientes que apresentaram degeneração discal tiveram a confirmação por meio de ressonância magnética nuclear e avaliação do nível de degeneração do disco. Resultados: Todos os polimorfismos foram encontrados no equilíbrio de Hardy-Weinberg (p>0,05) na população estudada. A frequência genotípica para o Grupo Degeneração de Disco e do Grupo Controle foi rs699947 p=0,475, rs1570360 p=0,862, rs2010963 p=0,823, rs833061 p=0,596 e rs3025039 p=0,230. Para a análise do haplótipo, destacaram-se as composições CAGGC (p=0,094) e CCGGC (p=0,054). Conclusão: A correlação entre os polimorfismos do gene VEGF como preditor de risco para degeneração discal foi negativa na população estudada. No entanto, o VEGF possui grande região polimórfica, ativada por vários fatores catabólicos e metabólicos no processo de degeneração discal, que não está completamente elucidado.
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Humanos , Masculino , Femenino , Adulto , Adulto Joven , Polimorfismo Genético , Haplotipos , Factores de Crecimiento Endotelial Vascular/genética , Degeneración del Disco Intervertebral/genética , Variación Genética , Imagen por Resonancia Magnética , Estudios de Casos y Controles , Medición de Riesgo , Factores de Crecimiento Endotelial Vascular/fisiología , Alelos , Reacción en Cadena en Tiempo Real de la Polimerasa/métodos , Frecuencia de los Genes , Genotipo , Persona de Mediana EdadRESUMEN
OBJECTIVE: To evaluate the frequency of polymorphisms in the vascular endothelial growth factor (VEGF) gene, as well as to identify a potential risk haplotype among the polymorphic regions in this gene in patients with disc degeneration and in the Control Group. METHODS: This study analyzed a total of 217 individuals distributed into the Disc Degeneration and Control Groups. Peripheral blood was collected from all patients to detect VEGF gene polymorphisms identified by qPCR (rs699947, rs1570360, rs2010963, rs833061 and rs3025039). All patients presenting disc degeneration had the confirmation by nuclear magnetic resonance test and were rated according to disc degeneration level. RESULTS: All polymorphisms were in Hardy- Weinberg equilibrium (p>0.05) in the studied population. The genotypic frequency for Disc Degeneration and Control Group were rs699947 p = 0.475, rs1570360 p = 0.862, rs2010963 p = 0.823, rs833061 p=0.596 and rs3025039 p=0.230. In haplotype analysis, the compositions CAGGC (p=0.094) and CCGGC (p=0.054) stood out. CONCLUSION: The correlation between VEGF gene polymorphism as a risk predictor for disc degeneration was negative in the studied population. However, the VEGF gene has a large polymorphic region, and it is activated by various catabolic and metabolic factors in the disc degeneration process, which has not been fully elucidated.
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Haplotipos , Degeneración del Disco Intervertebral/genética , Polimorfismo Genético , Factores de Crecimiento Endotelial Vascular/genética , Adulto , Alelos , Estudios de Casos y Controles , Femenino , Frecuencia de los Genes , Variación Genética , Genotipo , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Reacción en Cadena en Tiempo Real de la Polimerasa/métodos , Medición de Riesgo , Factores de Crecimiento Endotelial Vascular/fisiología , Adulto JovenRESUMEN
OBJECTIVE: Chemoreflex hypersensitity was caused by obstructive sleep apnea (OSA) in patients with metabolic syndrome (MetS). This study tested the hypothesis that hypocaloric diet and exercise training (D+ET) would improve peripheral and central chemoreflex sensitivity in patients with MetS and OSA. METHODS: Patients were assigned to: (1) D+ET (n = 16) and (2) no intervention control (C, n = 8). Minute ventilation (VE, pre-calibrated pneumotachograph) and muscle sympathetic nerve activity (MSNA, microneurography) were evaluated during peripheral chemoreflex sensitivity by inhalation of 10% O2 and 90% N2 with CO2 titrated and central chemoreflex by 7% CO2 and 93% O2 for 3 min at study entry and after 4 months. RESULTS: Peak VO2 was increased by D+ET; body weight, waist circumference, glucose levels, systolic/diastolic blood pressure, and apnea-hypopnea index (AHI) (34 ± 5.1 vs. 18 ± 3.2 events/h, P = 0.04) were reduced by D+ET. MSNA was reduced by D+ET at rest and in response to hypoxia (8.6 ± 1.2 vs. 5.4 ± 0.6 bursts/min, P = 0.02), and VE in response to hypercapnia (14.8 ± 3.9 vs. 9.1 ± 1.2 l/min, P = 0.02). No changes were found in the C group. A positive correlation was found between AHI and MSNA absolute changes (R = 0.51, P = 0.01) and body weight and AHI absolute changes (R = 0.69, P < 0.001). CONCLUSIONS: Sympathetic peripheral and ventilatory central chemoreflex sensitivity was improved by D+ET in MetS+OSA patients, which may be associated with improvement in sleep pattern.
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Dieta Reductora , Ejercicio Físico , Síndrome Metabólico/complicaciones , Obesidad/terapia , Apnea Obstructiva del Sueño/complicaciones , Sistema Nervioso Simpático/fisiopatología , Adulto , Dióxido de Carbono/metabolismo , Células Quimiorreceptoras/metabolismo , Femenino , Humanos , Masculino , Persona de Mediana Edad , Obesidad/complicaciones , Sistema Nervioso Simpático/metabolismo , Resultado del TratamientoRESUMEN
PURPOSE: Estrogen metabolizing gene mutations can be associated with defective hormonal signaling leading to disease processes. Endometriosis is an estrogen dependent that can be influenced by defective signaling in the estrogen pathway. OBJECTIVES: To evaluate the association of A/G 85952 CYP2C19 and A/G 937 HSD17B1 gene polymorphisms with endometriosis through the investigation of a large Brazilian sample of women with endometriosis and a fertile control group. METHODS: Five hundred women with endometriosis and 500 women without endometriosis were tested for CYP2C19 and HSD17B1 polymorphisms, by TaqMan Real Time PCR. The results were statistically analyzed by chi-square, logistic regression and tested for Hardy-Weinberg equilibrium. RESULTS: The comparison of genotype and allelic frequency of CYP2C19 polymorphism (rs11592737) in patients with endometriosis and control group showed a statistically significant difference (p = 0.0203) and for the HSD17B1 polymorphism (rs605059) differences were not significant (p = 0.0687). Comparing the stages I/II and III/IV endometriosis with the control group for the CYP2C19 we observed p = 0.0133 and p = 0.0564, respectively, and for HSD17B1 the values for p = 0.4319 and p = 0.0667. CONCLUSION: We observed that CYP2C19 polymorphism is associated with endometrisis in Brazilian women and can be considered a potential biomarker of the disease.
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Citocromo P-450 CYP2C19/genética , Endometriosis/genética , Estudios de Asociación Genética , Infertilidad Femenina/genética , Adulto , Endometriosis/patología , Estrógenos/genética , Estrógenos/metabolismo , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Humanos , Infertilidad Femenina/patología , Polimorfismo de Nucleótido SimpleRESUMEN
The case was male, 32 years old, with a nonobstructive azoospermia diagnosis and an initial 45,X karyotype. We evaluated by classical cytogenetic methods, C and NOR banding, fluorescent in situ hybridization, and polymerase chain reaction investigations. After investigation, we found the following karyotype: 45,X,dic(Y;22)(q11.223;p11.2). This investigation contributes to our understanding of how chromosome rearrangements can influence fertility processes and how important it is to perform a cytogenetic analysis in infertility cases.
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Cromosomas Humanos X , Cromosomas Humanos Y , Fertilidad/genética , Enfermedades Genéticas Ligadas al Cromosoma Y/genética , Infertilidad Masculina/genética , Adulto , Enfermedades Genéticas Ligadas al Cromosoma Y/diagnóstico , Enfermedades Genéticas Ligadas al Cromosoma Y/fisiopatología , Predisposición Genética a la Enfermedad , Humanos , Hibridación Fluorescente in Situ , Infertilidad Masculina/diagnóstico , Infertilidad Masculina/fisiopatología , Cariotipificación , Masculino , Técnicas de Diagnóstico Molecular , Fenotipo , Reacción en Cadena de la Polimerasa , PronósticoRESUMEN
The present report describes the case of a child that after blunt abdominal trauma presented with portal thrombosis followed by progressive splenomegaly and jaundice. Ultrasonography and percutaneous cholangiography revealed biliary dilatation secondary to choledochal stenosis caused by dilated peribiliary veins, characterizing a case of portal biliopathy. The present case report is aimed at presenting an uncommon cause of this condition.
Relata-se o caso de uma criança que após trauma abdominal fechado apresentou trombose portal, seguida por esplenomegalia progressiva e icterícia. Os achados da ultrassonografia e da colangiografia percutânea mostraram dilatação de vias biliares secundária à constrição do colédoco por veias pericoledocianas dilatadas, configurando caso de colangiopatia portal. O objetivo deste relato é a apresentação de causa incomum desta condição.
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BACKGROUND: OSA is extremely common among patients with resistant hypertension (HTN). However, the impact of the treatment of OSA with CPAP on BP in patients with resistant HTN is not well established. METHODS: In the current study, 40 patients with confirmed resistant HTN and moderate to severe OSA confirmed by full polysomnography were randomized to medical therapy or to medical treatment plus CPAP for 6 months. Patients were evaluated at study baseline and after 6 months by 24-h ambulatory BP monitoring (ABPM). RESULTS: Thirty-five patients (77% men; age, 56 ± 1 years; BMI, median 32 kg/m² [25%-75%, 28-39 kg/m²]; apnea-hypopnea index, 29 events/h [24-48 events/h]; Epworth Sleepiness Scale, 10 ± 1; systolic/diastolic office BP, 162 ± 4/97 ± 2 mm Hg; taking four [four to five] antihypertensive drugs) completed the study. CPAP was used for 6:01 ± 0:20 h/night (3:42-7:44 h/night). Compared with the control group, awake systolic/diastolic ABPM decreased significantly in the CPAP group (Δ: +3.1 ± 3.3 /+2.1 ± 2.7 mm Hg vs -6.5 ± 3.3/-4.5 ± 1.9 mm Hg, respectively, P < .05). Interestingly, the BP changes were observed only while patients were awake, but not during nocturnal ABPM (Δ: +2.8 ± 4.5/+1.8 ± 3.5 mm Hg vs +1.6 ± 3.5/+0.8 ± 2.9 mm Hg, P = NS). CONCLUSIONS: The treatment of OSA with CPAP significantly reduces daytime BP in patients with resistant HTN. Therefore, our study reinforces the importance of recognizing and treating OSA in patients with resistant HTN. TRIAL REGISTRY: ClinicalTrials.gov; No.: NCT00812695; URL: www.clinicaltrials.gov.
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Antihipertensivos/uso terapéutico , Presión Sanguínea/fisiología , Presión de las Vías Aéreas Positiva Contínua/métodos , Hipertensión/complicaciones , Apnea Obstructiva del Sueño/terapia , Adulto , Monitoreo Ambulatorio de la Presión Arterial , Femenino , Estudios de Seguimiento , Humanos , Hipertensión/tratamiento farmacológico , Hipertensión/fisiopatología , Masculino , Persona de Mediana Edad , Polisomnografía , Apnea Obstructiva del Sueño/complicaciones , Apnea Obstructiva del Sueño/fisiopatología , Resultado del TratamientoRESUMEN
Sleep Apnea is highly prevalent and may contribute to insulin resistance in patients with acromegaly. The primary aim of this study was to assess the impact of sleep apnea treatment with a continuous positive air pressure (CPAP) device on insulin resistance evaluated by hyperinsulinemic euglycemic clamp (HEC). A prospective, randomized, open label, placebo-controlled, crossover study was performed at a tertiary outpatient pituitary center. Twelve acromegalic subjects on somatostatin analogs (SA) with a recent diagnosis of moderate to severe sleep apnea were randomized to CPAP therapy or to nasal dilator adhesive (NDA) with placebo effect for 3 months and then crossed over for another 3 months period without washout. Assessment of HEC, mathematical insulin resistance indexes (HOMA, HOMA2 and QUICKI), GH, IGF-1, HbA1c and free fat acids were performed. A significant reduction on insulin resistance was demonstrated by HEC at the end of the study in patients on CPAP (HEC, pre- and post-CPAP: 4.27 vs. 6.10 mg/Kg/min, P = 0.032). This reduction was not observed in NDA group (HEC, pre- and post-adhesive: 5.53 vs. 5.19 mg/Kg/min, P = 0.455). There was no significant difference on HbA1c or on peripheral insulin resistance indexes in both treatments. CPAP promoted a significant increase on peripheral insulin sensitivity in acromegalic patients with moderate to severe sleep apnea on SA use. Our results support the concept that sleep apnea plays an important role on glucose metabolism. Insulin resistance indexes were unable to detect this finding.
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Acromegalia/metabolismo , Síndromes de la Apnea del Sueño/metabolismo , Acromegalia/tratamiento farmacológico , Acromegalia/terapia , Adulto , Anciano , Metabolismo de los Hidratos de Carbono/efectos de los fármacos , Presión de las Vías Aéreas Positiva Contínua , Femenino , Técnica de Clampeo de la Glucosa , Humanos , Masculino , Persona de Mediana Edad , Síndromes de la Apnea del Sueño/tratamiento farmacológico , Síndromes de la Apnea del Sueño/terapia , Somatostatina/análogos & derivados , Somatostatina/uso terapéuticoRESUMEN
OBJECTIVES: The aim of the current study was to compare the objective and subjective effects of continuous positive airway pressure to the use of nasal dilator strips in patients with acromegaly and moderate to severe obstructive sleep apnea. METHODS: We studied 12 patients with acromegaly and moderate to severe obstructive sleep apnea (male/ females = 8/4, age = 52 ± 8 ys, body mass index = 33.5 ± 4.6 Kg/m(2), apnea-hypopnea index = 38 ± 14 events/h) who had been included in a randomized, crossover study to receive three months of treatment with continuous positive airway pressure and nasal dilator strips. All patients were evaluated at study entry and at the end of each treatment by polysomnography, and Epworth Sleepiness Scale, Pittsburgh Sleep Quality Index and treatment satisfaction questionnaires. ClinicalTrials.gov: NCT01265121 RESULTS: The apnea-hypopnea index values decreased significantly with continuous positive airway pressure treatment but did not change with the use of nasal dilator strips. All of the subjective symptoms improved with both treatments, but these improvements were significantly greater with continuous positive airway pressure than with the nasal dilator strips. CONCLUSION: The use of nasal dilator strips had a much smaller effect on the severity of obstructive sleep apnea in patients with acromegaly and moderate to severe obstructive sleep apnea in comparison to the use of continuous positive airway pressure. Moreover, the improvement in several subjective parameters without any significant objective improvement in obstructive sleep apnea resulting from the use of nasal dilator strips is compatible with a placebo effect.
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Acromegalia/complicaciones , Presión de las Vías Aéreas Positiva Contínua , Dilatación/instrumentación , Cavidad Nasal , Apnea Obstructiva del Sueño/terapia , Adolescente , Adulto , Anciano , Estudios Cruzados , Femenino , Humanos , Masculino , Persona de Mediana Edad , Efecto Placebo , Polisomnografía , Encuestas y Cuestionarios , Adulto JovenRESUMEN
OBJECTIVES: The aim of the current study was to compare the objective and subjective effects of continuous positive airway pressure to the use of nasal dilator strips in patients with acromegaly and moderate to severe obstructive sleep apnea. METHODS: We studied 12 patients with acromegaly and moderate to severe obstructive sleep apnea (male/ females = 8/4, age = 52±8 ys, body mass index = 33.5±4.6 Kg/m², apnea-hypopnea index = 38±14 events/h) who had been included in a randomized, crossover study to receive three months of treatment with continuous positive airway pressure and nasal dilator strips. All patients were evaluated at study entry and at the end of each treatment by polysomnography, and Epworth Sleepiness Scale, Pittsburgh Sleep Quality Index and treatment satisfaction questionnaires. ClinicalTrials.gov: NCT01265121 RESULTS: The apnea-hypopnea index values decreased significantly with continuous positive airway pressure treatment but did not change with the use of nasal dilator strips. All of the subjective symptoms improved with both treatments, but these improvements were significantly greater with continuous positive airway pressure than with the nasal dilator strips CONCLUSION: The use of nasal dilator strips had a much smaller effect on the severity of obstructive sleep apnea in patients with acromegaly and moderate to severe obstructive sleep apnea in comparison to the use of continuous positive airway pressure. Moreover, the improvement in several subjective parameters without any significant objective improvement in obstructive sleep apnea resulting from the use of nasal dilator strips is compatible with a placebo effect.
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Adolescente , Adulto , Anciano , Femenino , Humanos , Persona de Mediana Edad , Adulto Joven , Acromegalia/complicaciones , Presión de las Vías Aéreas Positiva Contínua , Dilatación/instrumentación , Cavidad Nasal , Apnea Obstructiva del Sueño/terapia , Estudios Cruzados , Efecto Placebo , Polisomnografía , Encuestas y CuestionariosRESUMEN
Recognition and treatment of secondary causes of hypertension among patients with resistant hypertension may help to control blood pressure and reduce cardiovascular risk. However, there are no studies systematically evaluating secondary causes of hypertension according to the Seventh Joint National Committee. Consecutive patients with resistant hypertension were investigated for known causes of hypertension irrespective of symptoms and signs, including aortic coarctation, Cushing syndrome, obstructive sleep apnea, drugs, pheochromocytoma, primary aldosteronism, renal parenchymal disease, renovascular hypertension, and thyroid disorders. Among 125 patients (age: 52±1 years, 43% males, systolic and diastolic blood pressure: 176±31 and 107±19 mm Hg, respectively), obstructive sleep apnea (apnea-hypopnea index: >15 events per hour) was the most common condition associated with resistant hypertension (64.0%), followed by primary aldosteronism (5.6%), renal artery stenosis (2.4%), renal parenchymal disease (1.6%), oral contraceptives (1.6%), and thyroid disorders (0.8%). In 34.4%, no secondary cause of hypertension was identified (primary hypertension). Two concomitant secondary causes of hypertension were found in 6.4% of patients. Age >50 years (odds ratio: 5.2 [95% CI: 1.9-14.2]; P<0.01), neck circumference ≥41 cm for women and ≥43 cm for men (odds ratio: 4.7 [95% CI: 1.3-16.9]; P=0.02), and presence of snoring (odds ratio: 3.7 [95% CI: 1.3-11]; P=0.02) were predictors of obstructive sleep apnea. In conclusion, obstructive sleep apnea appears to be the most common condition associated with resistant hypertension. Age >50 years, large neck circumference measurement, and snoring are good predictors of obstructive sleep apnea in this population.
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Resistencia a Medicamentos , Hipertensión/tratamiento farmacológico , Hipertensión/etiología , Apnea Obstructiva del Sueño/complicaciones , Anciano , Análisis de Varianza , Antihipertensivos/uso terapéutico , Determinación de la Presión Sanguínea , Brasil , Estudios de Cohortes , Femenino , Estudios de Seguimiento , Humanos , Hiperaldosteronismo/complicaciones , Hiperaldosteronismo/diagnóstico , Hipertensión/epidemiología , Incidencia , Modelos Logísticos , Masculino , Persona de Mediana Edad , Análisis Multivariante , Polisomnografía/métodos , Obstrucción de la Arteria Renal/complicaciones , Obstrucción de la Arteria Renal/diagnóstico , Estudios Retrospectivos , Medición de Riesgo , Índice de Severidad de la Enfermedad , Apnea Obstructiva del Sueño/diagnóstico , Apnea Obstructiva del Sueño/epidemiologíaRESUMEN
OBJECTIVES: To evaluate clinical predictors of poor sleep quality and quality of life (QOL) in patients with hypertrophic cardiomyopathy (HCM). METHODS: Consecutive stable patients with HCM were evaluated for the risk of obstructive sleep apnea (OSA) by the Berlin Questionnaire, daytime sleepiness by the Epworth Sleepiness Scale, sleep quality by the Pittsburgh Sleep Questionnaire Index and QOL by the Minnesota Living with Heart Failure Questionnaire. Asymptomatic subjects without HCM were used as controls. RESULTS: We studied 84 patients with HCM and 42 controls who were similar with regard to gender (49 vs. 50% males), age [52 (38-62) vs. 47 (33-58) years] and body mass index (27 ± 4 vs. 27 ± 5). HCM diagnosis, high risk for OSA and female gender were independently associated with poor sleep quality in the entire population. Among patients with HCM, poor QOL was independently associated with poor sleep quality, New York Heart Association functional class and diuretic therapy. CONCLUSION: Poor sleep quality is very common in patients with HCM and may have a negative impact on the QOL, which in turn is an important marker of prognosis in patients with cardiomyopathies.
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Cardiomiopatía Hipertrófica/epidemiología , Calidad de Vida , Apnea Obstructiva del Sueño/epidemiología , Sueño , Adulto , Comorbilidad , Estudios Transversales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Oportunidad Relativa , Encuestas y CuestionariosRESUMEN
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is associated with arrhythmias and cardiovascular death. Left atrial enlargement and atrial fibrillation (AF) are considered markers for death due to heart failure in patients with HCM. Obstructive sleep apnea (OSA) is independently associated with heart remodeling and arrhythmias in other populations. We hypothesized that OSA is common and is associated with heart remodeling and AF in patients with HCM. METHODS: We evaluated 80 consecutive stable patients with a confirmed diagnosis of HCM by sleep questionnaire, blood tests, echocardiography, and sleep study (overnight respiratory monitoring). RESULTS: OSA (apnea-hypopnea index [AHI] > 15 events/h) was present in 32 patients (40%). Patients with OSA were significantly older (56 [41-64] vs 38.5 [30-53] years, P < .001) and presented higher BMI (28.2 +/- 3.5 vs 25.2 +/- 5.2 kg/m(2), P < .01) and increased left atrial diameter (45 [42-52.8] vs 41 [39-47] mm, P = .01) and aorta diameter (34 [30-37] vs 29 [28-32] mm, P < .001), compared with patients without OSA. Stepwise multiple linear regression showed that the AHI (P = .05) and BMI (P = .06) were associated with left atrial diameter. The AHI was the only variable associated with aorta diameter (P = .01). AF was present in 31% vs 6% of patients with and without OSA, respectively (P < .01). OSA (P = .03) and left atrial diameter (P = .03) were the only factors independently associated with AF. CONCLUSIONS: OSA is highly prevalent in patients with HCM and it is associated with left atrial and aortic enlargement. OSA is independently associated with AF, a risk factor for cardiovascular death in this population.