In-Hospital Management and Long-term Clinical Outcomes and Adherence in Patients With Acute Decompensated Heart Failure: Primary Results of the First Brazilian Registry of Heart Failure (BREATHE).

BACKGROUND: Heart failure (HF), a common cause of hospitalization, is associated with poor short-term clinical outcomes. Little is known about the long-term prognoses of patients with HF in Latin America. METHODS: BREATHE was the first nationwide prospective observational study in Brazil that included patients hospitalized due to acute heart failure (HF). Patients were included during 2 time periods: February 2011-December 2012 and June 2016-July 2018 SUGGESTION FOR REPHRASING: In-hospital management, 12-month clinical outcomes and adherence to evidence-based therapies were evaluated. RESULTS: A total of 3013 patients were enrolled at 71 centers in Brazil. At hospital admission, 83.8% had clear signs of pulmonary congestion. The main cause of decompensation was poor adherence to HF medications (27.8%). Among patients with reduced ejection fraction, concomitant use of beta-blockers, renin-angiotensin-aldosterone inhibitors and spironolactone decreased from 44.5% at hospital discharge to 35.2% at 3 months. The cumulative incidence of mortality at 12 months was 27.7%, with 24.3% readmission at 90 days and 44.4% at 12 months. CONCLUSIONS: In this large national prospective registry of patients hospitalized with acute HF, rates of mortality and readmission were higher than those reported globally. Poor adherence to evidence-based therapies was common at hospital discharge and at 12 months of follow-up.

Left ventricular structural abnormalities in the assessment of diastolic function in the elderly: source of discrepancies between the 2009 and 2016 criteria.

Diastolic dysfunction (DD) is routinely evaluated in echocardiography to support diagnosis, prognostication, and management of heart failure, a condition highly prevalent in elderly patients. Clinical guidelines were published in 2009, and updated in 2016, pursuing to standardize and improve DD categorization. We aimed to assess the concordance of DD between these two documents in an elderly population and to investigate how left ventricular structural abnormalities (LVSA) impact the reclassification. To evaluate this we analyzed the 308 consecutive transthoracic echocardiograms in patients older than 60 years (70.4 ± 7.7 years-old, 59% women) that fulfilled the inclusion criteria out of the 1438 echocardiograms performed in a tertiary hospital. We found that the prevalence of DD was lower according to the 2016 criteria (64% vs. 91%; p < 0.001), with 207 (67.2%) patients changing category, indicating poor agreement between the guidelines (kappa = 0.21). There were 188 (61%) patients with LVSA, which drove most of the reclassifications in 2016 Grade I DD cases. The prevalence of elevated filling pressures by Doppler halved in this elderly population using the updated recommendations (20.9% vs. 39.2%; p < 0.001). In conclusion the prevalence of DD was lower applying the 2016 guidelines, with a poor agreement with 2009 guidelines in all DD grades. The role of LVSA in reclassifications was particularly evident in Grade I DD, while Doppler parameters drove reclassifications among the more severe grades. If not properly addressed, these discrepancies may undermine the reliance on DD as a diagnostic and prognostic tool, particularly in an elderly population at a higher risk of heart failure.

Influence of genetic, biological and pharmacological factors on warfarin dose in a Southern Brazilian population of European ancestry.

AIMS: To investigate the influence of polymorphisms in CYP2C9, VKORC1, CYP4F2 and F2 genes on warfarin dose-response and develop a model including genetic and non-genetic factors for warfarin dose prediction needed for each patient. METHODS: A total of 279 patients of European ancestry on warfarin medication were investigated. Genotypes for -1639G>A, 1173C>T, and 3730G>A SNPs in the VKORC1 gene, CYP2C9*2 and CYP2C9*3, 1347C>T in the CYP4F2 gene and 494C>T in the F2 gene were determined by allelic discrimination with Taqman 5'-nuclease assays. RESULTS: The CYP2C9*2 and CYP2C9*3 polymorphisms in the CYP2C9 gene, -1639G>A and 1173C>T in the VKORC1 gene and 494C>T in the F2 gene are responsible for lower anticoagulant doses. In contrast, 1347C>T in the CYP4F2 gene and 3730G>A in the VKORC1 gene are responsible for higher doses of warfarin. An algorithm including genetic, biological and pharmacological factors that explains 63.3% of warfarin dose variation was developed. CONCLUSION: The model suggested has one of the highest coefficients of determination among those described in the literature.

Heart failure secondary to myocarditis after SARS-CoV-2 reinfection: a case report.

INTRODUCTION: Cardiac involvement in COVID-19 can range from mild damage to severe myocarditis. The precise mechanism by which COVID-19 causes myocardial injury is still unknown. Myocarditis following administration of COVID-19 vaccines, especially those based on mRNA, has also been described. However, no reports of heart failure following reinfection with SARS-CoV-2 in patients immunized with an inactivated vaccine have been identified. CASE DESCRIPTION: The patient was a 47-year-old male construction worker of African descent, with type II diabetes and a history of infection by SARS-CoV-2 in December 2020 and May 2021, confirmed by RT-PCR. He received two doses of an inactivated vaccine against COVID-19. Between the two COVID-19 episodes with positive RT-PCR, he had two episodes of bacterial lung infection. After the second episode of SARS-CoV-2 infection, he was diagnosed with severe heart failure as a sequela of myocarditis. CONCLUSION: It is essential to perform a thorough follow-up after infection with SARS-CoV-2 since, even with proper immunization, it is possible that the patient was reinfected and suffered severe cardiac sequelae as a consequence. The hypothesis of an etiology associated with the use of an inactivated vaccine against COVID-19, with a potential immune enhancement mechanism following reinfection with SARS-CoV-2, cannot be rejected.

Spontaneous Left Anterior Descending Coronary Artery Dissection Requiring Coronary Artery Bypass Surgery.

INTRODUCTION: Spontaneous coronary artery dissection is a sudden separation between the layers of a coronary artery wall, non-iatrogenic or trauma related, that has been recognized as an important cause of myocardial infarction. OBJECTIVE: To report an emblematic case, in terms of angiographic images, clinical presentation and predisposing factors, whose clinical management failure led to surgical intervention. METHODS: A previously healthy 48-year-old male farmer was admitted to the emergency room complaining of anterior chest pain described as "tearing", which started after physical exertion. Anterior wall ST-segment depression was observed in the electrocardiogram and troponin levels were increased. The patient then underwent coronary catheterization. Angiography showed a tortuous left anterior descending coronary artery with a dissection line involving proximal and middle segments, resulting in mild to moderate luminal stenosis. At first, a conservative approach was chosen. Control cardiac catheterization, 3 months later, showed dissection progression to the distal segment. RESULTS: The patient was referred to surgical treatment. Internal thoracic artery and a great saphenous vein graft were used to revascularize the target vessels. He had an uneventful postoperative course. CONCLUSION: In this report, we describe a typical clinical manifestation of an uncommon cause of acute myocardial infarction. The dissection was started by an extreme physical effort, which is a known triggering factor. Management of these cases is always challenging because there are no evidence-based therapies or guideline-based recomendations.

Predictors of Total Mortality and Echocardiographic Response for Cardiac Resynchronization Therapy: A Cohort Study.

BACKGROUND: Clinical studies demonstrate that up to 40% of patients do not respond to cardiac resynchronization therapy (CRT), thus, appropriate patient selection is critical to the success of CRT in heart failure. OBJECTIVE: Evaluation of mortality predictors and response to CRT in the Brazilian scenario. METHODS: Retrospective cohort study including patients submitted to CRT in a tertiary hospital in southern Brazil from 2008 to 2014. Survival was assessed through a database of the State Department of Health (RS). Predictors of echocardiographic response were evaluated using Poisson regression. Survival analysis was performed by Cox regression and Kaplan Meyer curves. A two-tailed p value less than 0.05 was considered statistically significant. RESULTS: A total of 170 patients with an average follow-up of 1011 ± 632 days were included. The total mortality was 30%. The independent predictors of mortality were age (hazard ratio [HR] of 1.05, p = 0.027), previous acute myocardial infarction (AMI) (HR of 2.17, p = 0.049) and chronic obstructive pulmonary disease (COPD) (HR of 3.13, p = 0.015). The percentage of biventricular stimulation at 6 months was identified as protective factor of mortality ([HR] 0.97, p = 0.048). The independent predictors associated with the echocardiographic response were absence of mitral insufficiency, presence of left bundle branch block and percentage of biventricular stimulation. CONCLUSION: Mortality in patients submitted to CRT in a tertiary hospital was independently associated with age, presence of COPD and previous AMI. The percentage of biventricular pacing evaluated 6 months after resynchronizer implantation was independently associated with improved survival and echocardiographic response.

Triceps skinfold as a prognostic predictor in outpatient heart failure.

BACKGROUND: Most reports regarding the obesity paradox have focused on body mass index (BMI) to classify obesity and the prognostic values of other indirect measurements of body composition remain poorly examined in heart failure (HF). OBJECTIVE: To evaluate the association between BMI and other indirect, but easily accessible, body composition measurements associated with the risk of all-cause mortality in HF. METHODS: Anthropometric parameters of body composition were assessed in 344 outpatients with a left ventricular ejection fraction (LVEF) of <50% from a prospective HF cohort that was followed-up for 30 ± 8.2 months. Survival was evaluated using the Kaplan-Meier method and Cox proportional hazard regression analysis. RESULTS: HF patients were predominantly male, of non-ischemic etiology, and had moderate to severe LV systolic dysfunction (mean LVEF = 32 ± 9%). Triceps skinfold (TSF) was the only anthropometric index that was associated with HF prognosis and had significantly lower values in patients who died (p = 0.047). A TSF > 20 mm was present in 9% of patients that died and 22% of those who survived (p = 0.027). Univariate analysis showed that serum creatinine level, LVEF, and NYHA class were associated with the risk of death, while Cox proportional hazard regression analysis showed that TSF > 20 was a strong independent predictor of all-cause mortality (hazard ratio = 0.36; 95% confidence interval = 0.13-0.97, p = 0.03). CONCLUSION: Although BMI is the most widely used anthropometric parameter in clinical practice, our results suggested that TSF is a better predictive marker of mortality in HF outpatients.

Early use of cardiac troponin-I and echocardiography imaging for prediction of myocardial infarction size in Wistar rats.

AIMS: Evaluating myocardial infarct (MI) size prior to intervention is fundamental to ensure accurate results in experimental studies. However, this assessment is performed at late time points. We aimed to evaluate whether measuring plasma cardiac troponin I (cTnI) and performing echocardiographic assessment at earlier time points can predict the occurrence of MI and infarct size. MAIN METHODS: Male Wistar rats were subjected to MI (n=40) or sham surgery (n=11). cTnI levels were measured 2 and 8h after MI. Echocardiographic evaluations were performed at 48h and 14days post-MI. After 14days, the animals were euthanized, and the hearts were removed and paraffin-embedded for Sirius red staining. KEY FINDINGS: cTnI plasma levels increased in the MI group relative to the sham group at 2h after MI (7.2±9.4ng/mL vs. 2.3±1.0ng/mL; p<0.01) with a further increase at 8h after MI (22.2±13.5ng/mL vs. 1.5±1.7ng/mL; p<0.001). cTnI levels (8h) and echocardiographic outcomes correlated with histological infarct size 14days after MI (r=0.74, p<0.001 and r=0.84, p<0.001, respectively), but only echocardiography could confidently identify small, medium, and large infarcts. Additionally, using a cutoff value of 4.8ng/mL we achieved 100% specificity and 91% sensitivity in detecting MI. SIGNIFICANCE: A cutoff value of 4.8ng/mL for cTnI could be used as early as 8h after MI to accurately identify infarct in this model, whereas echocardiographic images taken 48h after MI predicted the infarcted area 14days after MI.

Spontaneous left anterior descending coronary artery dissection requiring coronary artery bypass surgery

Abstract Introduction: Spontaneous coronary artery dissection is a sudden separation between the layers of a coronary artery wall, non-iatrogenic or trauma related, that has been recognized as an important cause of myocardial infarction. Objective: To report an emblematic case, in terms of angiographic images, clinical presentation and predisposing factors, whose clinical management failure led to surgical intervention. Methods: A previously healthy 48-year-old male farmer was admitted to the emergency room complaining of anterior chest pain described as "tearing", which started after physical exertion. Anterior wall ST-segment depression was observed in the electrocardiogram and troponin levels were increased. The patient then underwent coronary catheterization. Angiography showed a tortuous left anterior descending coronary artery with a dissection line involving proximal and middle segments, resulting in mild to moderate luminal stenosis. At first, a conservative approach was chosen. Control cardiac catheterization, 3 months later, showed dissection progression to the distal segment. Results: The patient was referred to surgical treatment. Internal thoracic artery and a great saphenous vein graft were used to revascularize the target vessels. He had an uneventful postoperative course. Conclusion: In this report, we describe a typical clinical manifestation of an uncommon cause of acute myocardial infarction. The dissection was started by an extreme physical effort, which is a known triggering factor. Management of these cases is always challenging because there are no evidence-based therapies or guideline-based recomendations.

Predictors of Total Mortality and Echocardiographic Response for Cardiac Resynchronization Therapy: A Cohort Study / Preditores de Mortalidade Total e de Resposta Ecocardiográfica à Terapia de Ressincronização Cardíaca: Um Estudo de Coorte

Abstract Background: Clinical studies demonstrate that up to 40% of patients do not respond to cardiac resynchronization therapy (CRT), thus, appropriate patient selection is critical to the success of CRT in heart failure. Objective: Evaluation of mortality predictors and response to CRT in the Brazilian scenario. Methods: Retrospective cohort study including patients submitted to CRT in a tertiary hospital in southern Brazil from 2008 to 2014. Survival was assessed through a database of the State Department of Health (RS). Predictors of echocardiographic response were evaluated using Poisson regression. Survival analysis was performed by Cox regression and Kaplan Meyer curves. A two-tailed p value less than 0.05 was considered statistically significant. Results: A total of 170 patients with an average follow-up of 1011 ± 632 days were included. The total mortality was 30%. The independent predictors of mortality were age (hazard ratio [HR] of 1.05, p = 0.027), previous acute myocardial infarction (AMI) (HR of 2.17, p = 0.049) and chronic obstructive pulmonary disease (COPD) (HR of 3.13, p = 0.015). The percentage of biventricular stimulation at 6 months was identified as protective factor of mortality ([HR] 0.97, p = 0.048). The independent predictors associated with the echocardiographic response were absence of mitral insufficiency, presence of left bundle branch block and percentage of biventricular stimulation. Conclusion: Mortality in patients submitted to CRT in a tertiary hospital was independently associated with age, presence of COPD and previous AMI. The percentage of biventricular pacing evaluated 6 months after resynchronizer implantation was independently associated with improved survival and echocardiographic response.

Resumo Fundamento: Estudos Clínicos demonstram que até 40% dos pacientes não respondem à terapia de ressincronização cardíaca (TRC), assim a seleção apropriada dos pacientes é fundamental para o sucesso da TRC na insuficiência cardíaca. Objetivo: Avaliação de preditores de mortalidade e resposta à TRC no cenário brasileiro. Métodos: Estudo de coorte retrospectivo incluindo os pacientes submetidos à TRC em hospital terciário no Sul do Brasil entre 2008-2014. A sobrevida foi avaliada através de banco de dados da Secretaria Estadual de Saúde (RS). Os preditores de resposta ecocardiográfica foram avaliados utilizando método de regressão de Poisson. A análise de sobrevida foi feita por regressão de Cox e curvas de Kaplan Meyer. Um valor de p bicaudal inferior a 0,05 foi considerado estatisticamente significativo. Resultados: Foram incluídos 170 pacientes com seguimento médio de 1011 ± 632 dias. A mortalidade total foi de 30%. Os preditores independentes de mortalidade identificados foram idade (hazzard ratio [HR] de 1,05; p = 0,027), infarto agudo do miocárdio (IAM) prévio (HR de 2,17; p = 0,049) e doença pulmonar obstrutiva crônica (DPOC) (HR de 3,13; p = 0,015). O percentual de estimulação biventricular em 6 meses foi identificado com fator protetor de mortalidade ([HR] 0,97; p = 0,048). Os preditores independentes associados à reposta ecocardiográfica foram ausência de insuficiência mitral, presença de bloqueio de ramo esquerdo e percentual de estimulação biventricular. Conclusão: A mortalidade nos pacientes submetidos à TRC em hospital terciário foi independentemente associada à idade, presença de DPOC e IAM prévio. O percentual de estimulação biventricular avaliado 6 meses após o implante do ressincronizador foi independentemente associado a melhora da sobrevida e resposta ecocardiográfica.

Levosimendan in acute decompensated heart failure: systematic review and meta-analysis.

BACKGROUND: Congestive heart failure (CHF) is a rather prevalent condition with a high mortality rate. Levosimendan is one among the new drugs that have been tested for its management. OBJECTIVE: To undertake a systematic review and meta-analysis of the morbidity and mortality reduction associated with levosimendan in the treatment of CHF. METHODS: A bibliographic search was conducted in the Medline database for all randomized controlled trials (RCTs) that assessed the use of levosimendan in CHF. The outcomes were death from all causes, length of hospital stay, and hospital readmission for CHF. All RCTs with outcomes of interest were included. Methodological quality criteria, such as blinding and confidentiality of the list of allocation, were evaluated in sensitivity analysis. The main calculation was done with random effects. RESULTS: Of the 179 articles identified, 48 were RCTs, 19 of them with outcomes of interest. In the comparison with placebo (7 trials, 1,652 patients), the relative risk (RR) for overall death was 0.87 (95% confidence interval [CI]: 0.65 to 1.18). In comparison with dobutamine (10 trials, 2,067 patients), the RR was 0.87 (95% CI: 0.75-1.02). Three studies had data on length of stay, in which levosimendan showed a decrease of 2.27 and 2.30 days compared to placebo and dobutamine, respectively (p < 0.05 for both). No article presented data on readmission alone. CONCLUSION: The evidence available so far has shown no benefit in terms of mortality in association with the use of levosimendan, which only showed a small benefit in the time of hospitalization.

NT-proBNP levels in systemic sclerosis: association with clinical and laboratory abnormalities.

OBJECTIVE: To identify factors related to NT-proBNP levels in systemic sclerosis (SSc). DESIGN AND METHODS: NT-proBNP was measured in 119 patients with SSc and 20 controls. Patients with transtricuspid gradient (TG) > or =36 mm Hg or > or =31 mmHg plus dyspnea were considered to have suspected systemic sclerosis-associated pulmonary arterial hypertension (SScPAH). RESULTS: Increasing age, NYHA functional class, skin score, history of systemic arterial hypertension (SAH), anticentromere antibodies, diastolic dysfunction, reduced pulmonary diffusing capacity, and TG were positively associated with NT-proBNP. In multivariable linear regression, TG, age, and SAH were independently associated to NT-proBNP levels. An ROC curve analysis (with an area under the curve of 0.89, 95% CI: 0.83-0.95) suggested a cutoff of 157.8pg/mL to identify patients with suspected SScPAH, presenting a sensitivity of 100% (78.1-100) and specificity of 72.3% (62.3-80.5). CONCLUSIONS: NT-proBNP levels are related to clinical and laboratory abnormalities in SSc. The results indicate that NT-proBNP may be a useful tool in the evaluation of SScPAH.

Ruptura de cordoalha mitral associada a crise tireotóxica: uma avaliação por ecocardiograma 3D / Mitral chordae rupture associated with thyrotoxic crisis: an assessment by 3D echocardiography

Relatamos o caso de ruptura de cordoalha mitral em um paciente adulto jovem, com apresentação clínica de febre, novo sopro cardíaco e disfunção respiratória, condição em que a hipótese de endocardite infecciosa é mandatória. Entretanto, o curso clínico, com ausência de critérios maiores para endocardite, a presença concomitante de crise tireotóxica e uma válvula mitral sem outras alterações estrututurais ecocardiográficas, reforça a hipótese alternativa de rutura de cordoalha associada ao estado hiperdinânimo. Os achados foram apropriadamente documentados e confirmados por ecocardiograma 3D. A revisão da literatura existente descreve que, embora a presença de regurgitação mitral leve a moderada seja altamente prevalente na tireotoxicose, a ruptura mitral na ausência de outras anormalidades estruturais é um achado raro e inesperado.

We report a case of a mitral chordaea rupture in a young adult patient presenting with fever, new cardiac murmur and respiratory distress, where the hypothesis of infective endocarditis was primarily selected as the main clinical concern. However, the clinical course in the absence of major criteria for endocarditis, the concomitant presence of a thyrotoxic state and no other echocardiographic detected structural alterations, strengthened the alternative hypothesis of primary rupture due to the hyperkinetic state. These findings were thoroughly documented and confirmed by 3D-echocardiography. The literature review describes that, although mild to moderate mitral regurgitation is highly prevalent in thyrotoxicosis, mitral rupture, in the absence of a previous structural abnormality, is a rare unexpected finding.

Prega cutânea tricipital como preditor prognóstico na insuficiência cardíaca ambulatorial / Triceps skinfold as a prognostic predictor in outpatient heart failure

FUNDAMENTO: A maioria dos estudos relatando o paradoxo da obesidade utiliza índice de massa corporal (IMC) para classificar obesidade. Dados avaliando o valor prognóstico de outras medidas indiretas de composição corporal são pouco explorados na insuficiência cardíaca (IC). OBJETIVO: Avaliar a associação entre IMC e outras medidas de composição corporal indiretas com risco de morte por todas as causas na IC. MÉTODOS: Parâmetros antropométricos de composição corporal foram avaliados em 344 pacientes ambulatoriais com fração de ejeção do ventrículo esquerdo (FEVE) < 50%, de uma coorte prospectiva seguida durante 30 ± 8,2 meses. A sobrevida foi avaliada por curvas de Kaplan-Meier e análise de regressão de risco proporcional de Cox. RESULTADOS: Os pacientes eram predominantemente do sexo masculino, de etiologia não-isquêmica e com disfunção sistólica do VE moderada a grave (FEVE média de 32 ± 9%). Prega cutânea tricipital (PCT) foi o único parâmetro antropométrico associado com prognóstico, com valores significativamente menores nos pacientes que morreram (p = 0,047). Uma PCT > 20 mm estava presente em 9% dos pacientes que morreram e em 22% dos vivos (p = 0,027). Na análise univariada, creatinina sérica, FEVE e classe funcional foram associadas ao risco de morte. Na regressão de Cox, PCT > 20 mm foi o preditor independente mais forte de mortalidade por qualquer causa (hazard ratio: 0,36; IC 95%: 0,13-0,97; p = 0,03). CONCLUSÃO: Embora IMC seja o parâmetro antropométrico mais utilizado na prática clínica, nossos resultados sugerem que PCT pode ser um melhor preditor de mortalidade em pacientes ambulatoriais com IC.

BACKGROUND: Most reports regarding the obesity paradox have focused on body mass index (BMI) to classify obesity and the prognostic values of other indirect measurements of body composition remain poorly examined in heart failure (HF). Objective: To evaluate the association between BMI and other indirect, but easily accessible, body composition measurements associated with the risk of all-cause mortality in HF. METHODS: Anthropometric parameters of body composition were assessed in 344 outpatients with a left ventricular ejection fraction (LVEF) of <50% from a prospective HF cohort that was followed-up for 30 ± 8.2 months. Survival was evaluated using the Kaplan-Meier method and Cox proportional hazard regression analysis. RESULTS: HF patients were predominantly male, of non-ischemic etiology, and had moderate to severe LV systolic dysfunction (mean LVEF = 32 ± 9%). Triceps skinfold (TSF) was the only anthropometric index that was associated with HF prognosis and had significantly lower values in patients who died (p = 0.047). A TSF > 20 mm was present in 9% of patients that died and 22% of those who survived (p = 0.027). Univariate analysis showed that serum creatinine level, LVEF, and NYHA class were associated with the risk of death, while Cox proportional hazard regression analysis showed that TSF > 20 was a strong independent predictor of all-cause mortality (hazard ratio = 0.36; 95% confidence interval = 0.13-0.97, p = 0.03). CONCLUSION: Although BMI is the most widely used anthropometric parameter in clinical practice, our results suggested that TSF is a better predictive marker of mortality in HF outpatients.

TCRBV20S1 and TCRBV3S1 gene segment polymorphisms in systemic sclerosis.

OBJECTIVE: To compare the frequencies of variants of TCRBV20S1 and TCRBV3S1 gene segments in patients with systemic sclerosis (SSc) and in controls. The null allele (allele 2) of TCRBV20S1 is associated with reduced levels of Vbeta20+ T-cells in the peripheral blood, while allele 1 of TCRBV3S1 is related to a low frequency of Vbeta3.1+ T-cells. METHODS: One hundred thirty patients with SSc and 118 healthy volunteer controls were genotyped for TCRBV20S1, and 117 patients and 85 controls were genotyped for TCRBV3S1 variants by PCR-RFLP. Patients underwent clinical evaluation, serology, pulmonary function tests, high resolution computed tomography, and Doppler echocardiography. RESULTS: The genotypic frequencies of TCRBV20S1 were 0.46 (allele 1/allele 1), 0.43 (allele 1/allele 2), and 0.11 (allele 2/allele 2) in SSc patients; in controls the frequencies were 0.70, 0.26, and 0.04, respectively (p < 0.001). The Mantel-Haenszel odds ratio (stratified by race and sex) of the allele 2 carrier state was 3.88 (95% CI 1.94 to 7.75). The allelic and genotypic frequencies of the TCRBV3S1 gene segment did not differ significantly in patients and controls. However, among patients, allele 1 (TCRBV3S1) carriers had a higher prevalence of interstitial lung disease (adjusted p = 0.032). CONCLUSION: The null allele of the TCRBV20S1 and the allele 1 of TCRBV3S1 gene segments may be considered risk factors for the development of SSc and interstitial lung disease, respectively, suggesting a protective role of Vbeta20+ and Vbeta3.1+ cells in the pathogenic immune responses in SSc.