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1.
Nutr Res Pract ; 18(3): 387-399, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38854469

RESUMO

BACKGROUND/OBJECTIVES: Poor oral health has been predicted the development of frailty and sarcopenia as well as the subsequent need for long-term care. This cross-sectional study examined the relationships among tooth loss, prefrailty, and dietary patterns in community-dwelling older Japanese females. SUBJECTS/METHODS: Information on the number of teeth, food consumption, and lifestyle factors was collected from 271 participants aged ≥ 65 yrs using a questionnaire. The number of teeth was self-reported and classified into 2 groups: natural teeth ≥ 20 and natural teeth < 20. Prefrailty was assessed using the Japanese version of the Cardiovascular Health Study. Three dietary patterns ("vegetables and dairy products" [VD], "rice and fish and shellfish" [RF], and "bread and beverages") were adopted from a cluster analysis of the intakes of 20 foods evaluated using the Food Frequency Questionnaire. The odds ratios (ORs) for prefrailty and dietary patterns were calculated using a binary logistic regression analysis. RESULTS: A total of 267 participants were analyzed, excluding those with frailty (n = 4). The rates of natural teeth < 20 and prefrailty were 57.3 and 37.4%, respectively. Natural teeth < 20 was positively correlated with prefrailty (OR, 4.66; 95% confidence interval [CI], 2.54-8.52) and inversely correlated with VD pattern (OR, 0.43; 95% CI, 0.27-0.69). Furthermore, both VD (OR, 0.38; 95% CI, 0.16-0.91) and RF (OR, 0.26; 95% CI, 0.11-0.62) patterns were inversely correlated with prefrailty. CONCLUSIONS: Maintaining the number of natural teeth ≥ 20 into old age plays an important role in preventing a prefrailty. The promotion of VD and RF dietary patterns has potential as an effective nutritional strategy for preventing tooth loss and prefrailty.

2.
Asia Pac J Clin Nutr ; 32(1): 106-119, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36997492

RESUMO

BACKGROUND AND OBJECTIVES: Falls are common among older females. This study investigated the relationships among falls and dietary patterns, nutritional inadequacy and prefrailty in community-dwelling older Japanese females. METHODS AND STUDY DESIGN: This cross-sectional study involved 271 females aged 65 and over. Prefrailty was defined as exhibiting one or two of the five Japanese version of the Cardiovascular Health Study criteria. Frailty was excluded (n=4). Energy, nutrient and food intakes were estimated using a validated FFQ. Dietary patterns were determined from intakes of 20 food groups assessed with FFQ, by cluster analysis. Nutritional inadequacy for the selected 23 nutrients in each dietary pattern was examined based on DRIs. Binomial logistic regression was applied to examine the relationships among falls and dietary pat-terns, prefrailty, and inadequate nutrients. RESULTS: Data from 267 participants were included. The incidence of falls was 27.3%, and 37.4% of participants were classified as prefrailty. Three dietary patterns identified were namely; 'rice and fish and shellfish' (n=100); 'vegetables and dairy products' (n=113); and 'bread and beverages' (n=54). A binomial logistic regression analysis revealed that dietary patterns of 'rice and fish and shellfish' (OR, 0.41; 95% CI, 0.16-0.95), and 'vegetables and dairy products' (OR, 0.30; 95% CI, 0.12-0.78) were negatively correlated with falls, and falls was positively associated with prefrailty. CONCLUSIONS: Dietary patterns characterized by 'rice and fish and shellfish', and 'vegetables and dairy products' were associated with a reduced incidence of falls in community-dwelling older Japanese females. Larger prospective studies are needed to validate these results.


Assuntos
Acidentes por Quedas , Dieta , Vida Independente , Feminino , Humanos , Estudos Transversais , População do Leste Asiático , Verduras
3.
Cureus ; 14(6): e26377, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35911320

RESUMO

Background High blood pressure (HBP) has become a public health issue worldwide. The relationship between high BP and changes in the body mass index (BMI) category in Japanese pubertal children has not yet been examined. To resolve this issue, we examined existing data with a focus on the primordial prevention of high BP signs, including elevated BP, among pubertal children aged 12 and 15 years. Methods Height, body weight, and BP data were examined from health checkups of 18,247 children conducted between 1993 and 2000 in the Karatsu Study, which was a cohort of pediatric lifestyle-related disease prevention medical health checkups in Japan. BP and BMI were assessed using the updated American Academy of Pediatrics (AAP) guidelines and Endocrine Society's clinical practice guidelines definitions, respectively. Results Follow-up data were obtained from 7,090 subjects (50.5% boys). Stage 2 hypertension (HTN) was detected in 3% and 2.7% of boys and girls aged 12 years, respectively, and in 2.7% and 1% of boys and girls aged 15 years, respectively. Among children aged 15 years, 1.4% were newly classified with stage 2 hypertension, and 15.6% exhibited improvements to a normal BP. A binomial logistic regression analysis of high BP and BMI category changes revealed odds ratios (OR) in the group with a deteriorated BMI category of 1.51 (95% confidence interval (CI), 1.17-1.94), 2.30 (95%CI, 1.66-3.17), and 6.83 (95%CI, 4.14-11.29) for elevated BP, stage 1 hypertension, and stage 2 hypertension, respectively. Conclusion High BP in puberty positively correlated with BMI category changes. Considering the presence of the tracking phenomenon in hypertension, BP monitoring is an essential part of the early strategy for the prevention of lifestyle-related diseases in childhood, and improvements in BP control are crucial in early life.

4.
Asia Pac J Clin Nutr ; 30(2): 263-274, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34191429

RESUMO

BACKGROUND AND OBJECTIVES: This study evaluated the association of physical prefrailty with the prevalence of inadequate nutrients among community-dwelling Japanese elderly women. METHODS AND STUDY DESIGN: This cross-sectional study included 120 older women (age range, 65-79 years) at an elders college. Frailty was evaluated using the Japanese version of the Cardiovascular Health Study (J-CHS). Participants were classified as either prefrailty (1-2 deficits) or nonfrailty (0 deficits) based on set criteria. Both groups were compared in terms of physical function, exercise time, nutrient intake, and food group intake estimated by Food Frequency Questionnaire Based on Food Groups (FFQg), and estimated prevalence of inadequate nutrient intake, which was evaluated using each dietary reference value, set as the estimated average requirement (EAR) and dietary goal (DG), based on the Dietary Reference Intakes (DRIs) for Japanese, 2020. RESULTS: Of the participants, 45.0% exhibited physical prefrailty. Binary logistic regression analysis identified that vitamin C intake below EAR (OR, 7.12; 95% CI, 1.47-34.41, p=0.014) was the only factor associated with physical prefrailty. CONCLUSIONS: In addition to measuring physical function, dietary surveys and evaluation of nutritional adequacy by DRIs are expected to be useful for the early prevention of physical prefrailty by linking to nutrition education among community-dwelling Japanese elderly adults.


Assuntos
Ingestão de Alimentos , Vida Independente , Adulto , Idoso , Estudos Transversais , Feminino , Humanos , Japão/epidemiologia , Prevalência
5.
Geriatr Gerontol Int ; 17(11): 2232-2238, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28224758

RESUMO

AIM: Food security and sufficient nutrient intake are critical to longevity and active aging. The present study aimed to elucidate physical and social factors related to dietary variety among single-living older adults in Japanese communities. METHODS: The cross-sectional survey with a self-administrated questionnaire was carried out for all older adults living alone aged 65 years and older in three cities of Japan during 2014. Dietary variety score (DVS) was determined by counting the number of 10 food groups consumed at least once in 2 days using a food frequency questionnaire. Using the data of 704 men and 1366 women, the sex-specific association of low DVS (<4) with age, region, frailty, annual income, social support, distance to the nearest supermarket and car ownership was analyzed. RESULTS: The prevalence of low DVS was 40.9% for men and 18.4% for women. Frailty and low social support were associated with low DVS. A gradient association with income was found for women, whereas men showed a threshold: <1.5 million yen per year was associated with low DVS. The distance to the nearest supermarket was not significantly associated with DVS. CONCLUSIONS: The findings of the present study imply that as well as frailty, poor social support and economic disadvantage are associated with a decline in dietary variety. In particular, frail men with income <1.5 million yen per year had a high risk of decreased dietary variety. Formal and informal support to secure food accessibility for physically and socially vulnerable older adults should be encouraged. Geriatr Gerontol Int 2017; 17: 2232-2238.


Assuntos
Dieta/estatística & dados numéricos , Fragilidade/epidemiologia , Apoio Social , Idoso , Estudos Transversais , Inquéritos sobre Dietas , Feminino , Abastecimento de Alimentos , Humanos , Japão/epidemiologia , Masculino , Fatores Socioeconômicos
6.
Nihon Koshu Eisei Zasshi ; 62(7): 347-56, 2015.
Artigo em Japonês | MEDLINE | ID: mdl-26310955

RESUMO

OBJECTIVES: Responses and receptiveness to messages advocating health promotion are expected to vary according to differences in personal characteristics. To increase communication effectiveness, this study examined the differences in perceptions of the effectiveness of messages among Japanese adults by socioeconomic status and other characteristics. METHODS: A structured questionnaire survey was administered to residents aged 30-59 randomly selected in two cities (Yamaguchi and Iwakuni) of Yamaguchi prefecture. The questionnaire consisted of items on sociodemographic characteristics including sex, age, marital status, education, and household income; the perceived effectiveness of health messages; and other factors. The subjects were shown different messages on several themes (smoking cessation, cancer screening, weight gain) and asked to select those that they considered most effective. The associations between perception and subjects' sociodemographic characteristics were analyzed. RESULTS: A total of 445 subjects responded (response rate, 37.1%). The negative messages (health effects of risk behaviors) were generally perceived as the most effective. Sex, age, marital status, education, and income were significantly associated with the perceived effectiveness of health messages: higher income was significantly associated with secondhand smoke in the case of smoking cessation, lower income was associated with addiction in the case of drinking restraints, lower education and middle income were associated with affection, and lower income was associated with own expense in the case of cancer screening. CONCLUSION: Despite some differences among the health themes, personal characteristics including age, sex, and marital and socioeconomic status were associated with the perceived effectiveness of health messages, and our results suggest that health communication may be made more effective by consideration of the sociodemographic characteristics of target populations and subjects.


Assuntos
Promoção da Saúde , Adulto , Povo Asiático , Comunicação , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Classe Social , Inquéritos e Questionários
8.
Int Heart J ; 48(3): 379-85, 2007 May.
Artigo em Inglês | MEDLINE | ID: mdl-17592202

RESUMO

A 74-year-old man had undergone on-pump coronary artery bypass grafting (CABG) for effort-induced angina pectoris. Soon after CABG using the left internal thoracic artery for the left anterior descending artery and saphenous vein for the left circumflex artery, ST elevation was found in the inferior leads and complete atrioventricular block, ventricular tachycardia, and circulatory collapse occurred. Emergent coronary angiography revealed diffuse severe spasm of the right coronary artery (RCA). Despite the intravenous and intracoronary administration of massive doses of vasodilators and intra-aortic balloon pumping, the coronary spasm did not resolve. Five stents were deployed from the distal to the proximal portion of the RCA. After multistenting, coronary flow was dramatically improved and the ST elevations in the inferior leads were also improved. Coronary artery spasm after CABG is relatively rare, but when it occurs, it can be fatal. Multistenting is a useful treatment for life-threatening refractory coronary spasm after CABG.


Assuntos
Angina Pectoris/cirurgia , Implante de Prótese Vascular/instrumentação , Ponte de Artéria Coronária/efeitos adversos , Vasoespasmo Coronário/cirurgia , Stents , Idoso , Angina Pectoris/diagnóstico por imagem , Angina Pectoris/fisiopatologia , Angiografia Coronária , Vasoespasmo Coronário/diagnóstico por imagem , Vasoespasmo Coronário/etiologia , Eletrocardiografia , Seguimentos , Humanos , Masculino , Desenho de Prótese , Reoperação , Índice de Gravidade de Doença
9.
Circ J ; 67(6): 495-8, 2003 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-12808265

RESUMO

Congenital long QT syndrome (LQTS) is caused by mutations in various cardiac potassium or sodium channel genes, with 6 different genotypes thus far identified. However, it is unknown whether these genotypes can be differentiated by QT variables. The electrocardiograms obtained from 16 patients with a mutation in KCNQ1 (LQT1), 7 patients with a mutation in HERG (LQT2) and 20 control subjects were analyzed. The corrected QT interval (QTc), Q-T peak interval (QTpc) and dispersion of QTc or QTpc were measured in 6 precordial leads. The corrected interval from T peak to T end (Tpec) was measured in lead V(5). The maximum QTc, QTc dispersion, and Tpec were significantly increased in the LQT1 and LQT2 patients than in the controls. However, there were no significant differences in these indices between the LQT1 and LQT2 patients. In contrast, QTpc dispersion was significantly increased in the LQT2 patients (78+/-25 ms) compared with the LQT1 patients (29+/-15 ms) and controls (26+/-19 ms). These results suggest that increased lag of the peak of the T wave in each precordial lead (QTpc dispersion) may be a possible index to differentiate LQTS patients with HERG mutation from those with KCNQ1 mutation.


Assuntos
Proteínas de Transporte de Cátions , Proteínas de Ligação a DNA , Eletrocardiografia , Síndrome do QT Longo/congênito , Canais de Potássio de Abertura Dependente da Tensão da Membrana , Canais de Potássio/genética , Transativadores , Adulto , Substituição de Aminoácidos , Canal de Potássio ERG1 , Canais de Potássio Éter-A-Go-Go , Feminino , Humanos , Canais de Potássio KCNQ , Canal de Potássio KCNQ1 , Síndrome do QT Longo/classificação , Síndrome do QT Longo/genética , Síndrome do QT Longo/fisiopatologia , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Canais de Potássio/deficiência , Canais de Potássio/fisiologia , Regulador Transcricional ERG
10.
J Nucl Cardiol ; 10(3): 304-10, 2003.
Artigo em Inglês | MEDLINE | ID: mdl-12794630

RESUMO

BACKGROUND: Malignant ventricular tachyarrhythmia (VT) and sudden death are serious events in hypertrophic cardiomyopathy (HCM). However, the pathophysiology of this condition is not well understood. The objective of this study was to evaluate the relationship between cardiac sympathetic nerve activity and the occurrence of VT in HCM patients. Methods and results We studied iodine 123 metaiodobenzylguanidine scintigraphy and 24-hour ambulatory electrocardiographic monitoring in 44 HCM patients, 15 with VT (group A) and 29 without VT (group B). With planar I-123 metaiodobenzylguanidine imaging, the heart-to-mediastinum ratio for early and delayed acquisition and washout rate were calculated. Polar maps of left ventricular myocardium were divided into 20 segments, and the SD of uptake and washout rate in 20 segments were calculated as indices of regional variation. The global washout rate was significantly higher in group A than in group B (26.8 +/- 6.4% vs 17.4 +/- 5.7%, P <.0001), although other parameters including heterogeneity indices did not differ. The logistic multiple regression analysis also determined that washout rate was the most powerful predictor of VT in patients with HCM. CONCLUSIONS: The occurrence of malignant VT in HCM may be associated with global cardiac sympathetic nerve activity rather than with the heterogeneity of this activity.


Assuntos
3-Iodobenzilguanidina , Cardiomiopatia Hipertrófica/complicações , Cardiomiopatia Hipertrófica/fisiopatologia , Compostos Radiofarmacêuticos , Sistema Nervoso Simpático/diagnóstico por imagem , Taquicardia Ventricular/etiologia , Tomografia Computadorizada de Emissão de Fóton Único , Adulto , Idoso , Cardiomiopatia Hipertrófica/diagnóstico por imagem , Eletrocardiografia Ambulatorial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Análise de Regressão , Sistema Nervoso Simpático/fisiopatologia
11.
J Am Coll Cardiol ; 41(5): 781-6, 2003 Mar 05.
Artigo em Inglês | MEDLINE | ID: mdl-12628722

RESUMO

OBJECTIVES: We studied the clinical features of hypertrophic cardiomyopathy (HCM) caused by a novel mutation in the myosin binding protein-C (MyBP-C) gene in patients and family members of Japanese descent. BACKGROUND: Previous reports have demonstrated that the clinical features of HCM associated with mutations in the MyBP-C gene include late onset and a favorable clinical course. Recently, some mutations in genes encoding sarcomeric proteins have been reported to be a cause of dilated cardiomyopathy (DCM), as well as HCM. However, mutations of the MyBP-C gene have not been reported as a cause of DCM up to now. METHODS: We analyzed MyBP-C gene mutations in 250 unrelated probands with HCM and in 90 with DCM. We used electrocardiography (ECG) and echocardiography to determine clinical phenotypes. RESULTS: We identified 17 individuals in 8 families (7 HCM, 1 DCM) with an Arg820Gln mutation in the MyBP-C gene. Overall, 2 (40%) of 5 carriers age >70 years displayed "burnt-out" phase HCM, and one of them had been diagnosed as having DCM before genetic identification. The disease penetrance in subjects age >50 years was 70% by echocardiography and 100% by ECG, and that in those age <50 years was 40% and 50%, respectively. CONCLUSIONS: Elderly patients with Arg820Gln mutation may show "burnt-out" phase HCM, and patients with this mutation may be included among those diagnosed as having DCM. Screening of patients with DCM, as well as HCM, for this mutation is of significant importance because patients with this mutation may be diagnosed clinically as having DCM.


Assuntos
Cardiomiopatia Dilatada/genética , Cardiomiopatia Hipertrófica/genética , Proteínas de Transporte/genética , Predisposição Genética para Doença , Mutação de Sentido Incorreto , Polimorfismo Genético , Disfunção Ventricular Esquerda/genética , Adolescente , Adulto , Distribuição por Idade , Idoso , Cardiomiopatia Dilatada/diagnóstico , Cardiomiopatia Dilatada/epidemiologia , Cardiomiopatia Hipertrófica/diagnóstico , Cardiomiopatia Hipertrófica/epidemiologia , Estudos de Coortes , Comorbidade , Ecocardiografia , Eletrocardiografia , Feminino , Testes Genéticos , Humanos , Japão/epidemiologia , Masculino , Pessoa de Meia-Idade , Linhagem , Reação em Cadeia da Polimerase , Prevalência , Medição de Risco , Índice de Gravidade de Doença , Taxa de Sobrevida , Disfunção Ventricular Esquerda/diagnóstico , Disfunção Ventricular Esquerda/epidemiologia
12.
Jpn Heart J ; 44(1): 11-20, 2003 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-12622433

RESUMO

Very elderly patients have higher mortality rates than younger patients after acute coronary syndrome (ACS). However, the mechanism by which increasing age contributes to such mortality remains unclear. In addition, the efficacy and safety of invasive coronary procedures for octogenarians with ACS have not been well established. We compared the clinical characteristics and in-hospital outcome of 193 octogenarians (mean age, 83 years) with those of 1,462 younger patients (mean age, 64 years) with ACS who underwent emergent coronary angiography. Octogenarians included a greater number of females, had higher rates of cerebrovascular disease and multivessel disease, a higher Killip class, a higher Forrester class, and lower rates of smoking, diabetes, and hypercholesterolemia than the younger subjects. Interventions, including percutaneous transluminal coronary angioplasty (PTCA) and coronary artery bypass grafting (CABG), were performed less frequently in octogenarians than in younger patients (88.0% versus 90.8%). The procedural success rate in octogenarians did not differ from that in younger patients. However, the in-hospital mortality rate for the octogenarians was about three times higher than for the younger patients (19.2% versus 6.9%). Multivariate analysis revealed that the predictors of in-hospital mortality in the octogenarians were a higher Killip class and a higher Forrester class. Octogenarians with ACS had fewer coronary risk factors and a similar success rate for the intervention, but had more greatly impaired hemodynamics and higher in-hospital mortality than the younger patients. Therefore, impaired myocardial reserve may contribute to a large portion of in-hospital deaths in octogenarians with ACS.


Assuntos
Angina Instável/mortalidade , Mortalidade Hospitalar , Infarto do Miocárdio/mortalidade , Idoso , Angina Instável/diagnóstico por imagem , Angina Instável/fisiopatologia , Causas de Morte , Angiografia Coronária , Serviços Médicos de Emergência , Feminino , Hemodinâmica , Humanos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Infarto do Miocárdio/diagnóstico por imagem , Infarto do Miocárdio/fisiopatologia , Estudos Retrospectivos , Síndrome
13.
Circ J ; 66(5): 435-40, 2002 May.
Artigo em Inglês | MEDLINE | ID: mdl-12030335

RESUMO

It has been reported that women with acute myocardial infarction (AMI) have a higher short-term mortality rate than men, but the reason is unclear and it is not known if it also applies to unstable angina pectoris (UAP). In addition, most previous studies have not presented angiographic findings. In the present study, the findings from 1,408 patients with AMI (group A: 361 women, 1,047 men) and 332 patients with UAP (group B: 103 women, 229 men) who underwent coronary angiography within 30 days of onset were analyzed. In both groups, the women were older and had a higher rate of hypertension and a lower rate of smoking than the men. There was no significant difference in Killip class or the number of diseased vessels between the women and men in both groups. Interventions (coronary angioplasty and coronary artery bypass grafting) were performed less frequently in the women than in the men (87.2% vs 91.8%, p=0.04) in group A, but not in group B (80.6% vs 81.2%, NS). In both groups, the overall mortality rate during hospitalization was higher in women than in men (group A: 14.4% vs 7.4%, p<0.0001, group B: 7.8% vs 1.7%, p=0.007). Multivariate analysis revealed that female gender was an independent predictor of in-hospital mortality in group B (odds ratio (OR): 6.4, 95% confidence interval (CI) 1.1-37.0, p=0.04), but not in group A (OR: 1.7, 95%CI 0.98-2.9, p=0.06). The independent predictors of in-hospital mortality, other than female gender were age, prior congestive heart failure, prior cerebrovascular disease and a higher Killip class in group A, and in both groups a higher number of diseased vessels. In conclusion, Japanese women with acute coronary syndromes present with similar angiographic findings and hemodynamics, but have a higher in-hospital mortality than male patients. Our results suggest that older age may be a potential explanation for the higher in-hospital mortality in women with AMI, but female gender itself may be an important predictor for it among those with UAP.


Assuntos
Doença das Coronárias/diagnóstico por imagem , Doença das Coronárias/fisiopatologia , Caracteres Sexuais , Doença Aguda , Idoso , Angioplastia Coronária com Balão , Causas de Morte , Angiografia Coronária , Ponte de Artéria Coronária , Doença das Coronárias/mortalidade , Doença das Coronárias/terapia , Feminino , Previsões , Hemodinâmica , Mortalidade Hospitalar , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Distribuição por Sexo
14.
Circ J ; 66(5): 519-21, 2002 May.
Artigo em Inglês | MEDLINE | ID: mdl-12030352

RESUMO

A young adult patient with untreated sarcoidosis spontaneously developed a left ventricular (LV) aneurysm in the anterolateral free wall. Single-photon emission computed tomography (SPECT) using Gallium-67 clearly demonstrated widespread abnormal uptake, including the LV aneurysm. Thallium-201 SPECT revealed a perfusion defect in the anterolateral wall, and abnormal uptake of technetium-99m pyrophosphate was seen, especially in the borders of the defect lesion.


Assuntos
Aneurisma Cardíaco/etiologia , Sarcoidose/complicações , Adulto , Ecocardiografia , Eletrocardiografia , Radioisótopos de Gálio , Aneurisma Cardíaco/diagnóstico , Ventrículos do Coração , Humanos , Masculino , Pirofosfato de Tecnécio Tc 99m , Radioisótopos de Tálio , Tomografia Computadorizada de Emissão de Fóton Único
15.
Am Heart J ; 143(2): 289-93, 2002 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-11835033

RESUMO

BACKGROUND: Deletion of lysine 183 (K183del) in the cardiac troponin I (cTnI) gene is one of the mutations that causes hypertrophic cardiomyopathy (HCM). However, the phenotypic expression of this mutation has not been well established. METHODS AND RESULTS: We analyzed 10 probands with HCM associated with a K183del in the cTnI gene, as well as their family members. Forty-seven of these 80 subjects were found to be carriers and 33 were noncarriers. In the carrier subjects, electrocardiogram (ECG) abnormalities were initially noted during the early teenage years preceding echocardiographic abnormalities. Abnormal Q waves were found first and most frequently compared with other ECG abnormalities. Abnormal Q waves were frequently observed in leads II, III, aVF, V5, and V6 in teenage patients, whereas they were observed in many leads in patients >20 years old. The youngest of the 11 patients who had sudden cardiac death among studied pedigrees was a 14-year-old boy. CONCLUSIONS: These results suggest that the first phenotypic manifestation in patients with HCM associated with a K183del mutation in the cTnI gene is abnormal Q waves in leads II, III, aVF, V5, and V6 during the early teenage years. To prevent sudden death in family members of patients with this mutation, it may be necessary to genetically diagnose it before age 10 years and to pay careful attention to any development of abnormal Q waves.


Assuntos
Cardiomiopatia Hipertrófica/genética , Eletrocardiografia , Mutação de Sentido Incorreto/genética , Troponina I/genética , Adolescente , Adulto , Fatores Etários , Cardiomiopatia Hipertrófica/mortalidade , Criança , Morte Súbita Cardíaca/etiologia , Morte Súbita Cardíaca/prevenção & controle , Ecocardiografia , Feminino , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo
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