Between the April and July of 2007, patients undergoing treatment for schistosomal liver fibrosis, at a university hospital in north-eastern Brazil, were examined by transthoracic Doppler echocardiography (TTE). The main aim was to determine the prevalence of pulmonary hypertension in the patients. The thorax of each patient who had such hypertension, as indicated by an estimated pulmonary arterial systolic pressure (PASP) in excess of 35 mmHg, was then investigated by contrast-enhanced multidetector-row computed tomography (MDCT). The 84 patients (53 women and 31 men) enrolled in the study had a mean (S.D.) age of 50.06 (12.25) years. Nine (10.7%, with a 95% confidence interval of 5.0%-19.4%) of the patients were found to have pulmonary hypertension, with PASP ranging from 40-126 mmHg, and a median (S.D.) PASP of 58.78 (28.01) mmHg. The contrast-enhanced thoracic MDCT indicated that most of the patients with pulmonary hypertension had a pulmonary artery trunk that was unusually wide (67%) and more than 1.1-fold wider than the ascending aorta (56%), dilatation of the main pulmonary arteries (100%), a segmental artery that, in diameter, was more than 1.1-fold larger than the adjacent bronchi (89%), tapering of the peripheral pulmonary arteries (78%), and cardiac enlargement (78%). No patient suffered pulmonary embolism as a result of the investigations. The prevalence of pulmonary hypertension in the patients with schistosomal liver fibrosis (10.7%) justifies the screening of such patients by TTE.

Background Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the alpha galactosidase A gene (GLA) that lead to the enzymatic deficiency of alpha galactosidase (α-Gal A), resulting in the accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3), causing multiple organ dysfunctions. Objective To perform GLA gene screening in a group of patients with echocardiographic diagnosis of hypertrophic cardiomyopathy (HCM). Methods a cross-sectional study was conducted with HCM patients from a university hospital. Patients with coronary artery disease and valvulopathies were excluded. Mutation analysis of the GLA gene was performed. In male subjects, the analysis was performed after evidence of low α-Gal A activity. Results 60 patients with echocardiographic diagnosis of HCM were included. Age ranged from 12 to 85 years and 60% were women. Mean myocardial fibrosis percentage on MRI was 10.7 ± 13.1% and mean ventricular thickness was18.7 ± 6.7 mm. Four patients had the following GLA gene mutations: c.967C>A (p.Pro323Thr), not yet described in the literature; c.937G>T (p.Asp313Tyr); and c.352C>T (p.Arg118Cys). All patients had normal levels of lyso-Gb3 and non-ischemic myocardial fibrosis on magnetic resonance imaging; one patient had proteinuria and one patient had ventricular tachycardia. Conclusion in this study, the frequency of mutation in the GLA gene in patients with HCM was 6.7%. A novel mutation in exon 6 of the GLA gene, c.967C>A (p.Pro323Thr), was identified. Patients with HCM may have GLA mutations and FD should be ruled out. Plasma (lyso-Gb3) levels do not seem to be sufficient to attain a diagnosis and organ biopsy should be considered.

Familial hypertrophic cardiomyopathy is an autosomal dominant genetic disease considered the most common cause of sudden cardiac death in individuals under 35 years old, especially the athletes. This study aimed to investigate the association between the presence of late potentials and a family history of sudden death, syncope, and complex ventricular arrhythmias on patients with hypertrophic cardiomyopathy. A case series study was carried out from March 2001 to December 2002, including 22 patients with hypertrophic cardiomyopathy according to transthoracic echocardiogram criteria. Patients on a cardiac pacemaker, right bundle branch block, cardiac transplant, and under no possibilities to realize the exams were excluded. The results showed that asymmetric septal hypertrophy was the most common type (73%), 63% had a positive familial history of hypertrophic cardiomyopathy, 55% sudden cardiac death, and 23% syncope. Also, complex ventricular arrhythmias were detected in 14% and late potentials in 23% of patients. According to this study, the presence of late potentials was not associated with familial sudden death, syncope, and complex ventricular arrhythmias.

O DSE has shown an excellent negative predictive value allowing for early hospital discharge without further exams. The positive test result was the only independent predictor for adverse cardiac events.

Resumo Fundamento: Diabete Melito eleva substancialmente o risco cardiovascular dos indivíduos acometidos. Objetivo: Avaliar a importância da ecocardiografia sob estresse farmacológico (EEF) na estratificação de risco de diabéticos com suspeita de isquemia miocárdica. Métodos: Coorte prospectiva. Os pacientes foram submetidos a EEF segundo os protocolos de dipiridamol (0,84 mg/kg com até 1,0 mg de atropina) ou dobutamina (5-40 ug/Kg/min associado a até 2,0 mg/atropina). Foram seguidos por meio de consulta aos prontuários médicos, contato telefônico ou entrevista com o médico assistente. O desfecho clínico considerado foi a combinação de morte cardiovascular, infarto agudo do miocárdio, angina instável e necessidade de revascularização cirúrgica ou percutânea. Resultados: Foram avaliados 291 pacientes, 59,5% mulheres, média etária de 65 ± 9,6 anos. Os sintomas foram dor precordial atípica (60%), dor precordial típica em 12% e 24% assintomáticos. O tempo médio de seguimento foi 42 m (01-105). Ocorreram 66 eventos combinados, 51 dos quais com EEF positivo. Sensibilidade, especificidade, acurácia, Valor Preditivo Positivo (VPP) e Valor Preditivo Negativo (VPN) ante os desfechos foram: 75%, 93,3%, 89%, 77,3% e 92,4%, respectivamente. As variáveis EEF positiva para isquemia, sexo masculino, infarto agudo do miocárdio (IAM), revascularização miocárdica cirúrgica (RMC) e intervenção coronariana percutânea (ICP) prévios, hipertensão arterial sistêmica (HAS), uso de ácido acetilsalicílico (AAS) prévio e eletrocardiograma (ECG) alterado tiveram associação com a ocorrência de eventos na análise univariada. Na análise multivariada, apenas o resultado positivo do EEF foi preditor independente para os desfechos clínicos combinados (RR 25,26 IC 95% 13,62 -46,81 p < 0,001). Conclusão: O resultado positivo para isquemia miocárdica foi o único preditor independente para a ocorrência dos desfechos clínicos combinados. (Arq Bras Cardiol: Imagem cardiovasc. 2015;28(2):73-79) Palavras-chave: Ecocardiografia sob estresse; Isquemia Miocárdica; Diabetes Mellitus. Abstract Background: Diabetes Mellitus substantially increases cardiovascular risk in individuals affected.Objective: To evaluate the importance of pharmacological stress echocardiography (PSE) in risk stratification of diabetic patients with suspected myocardial ischemia.Methods: Prospective cohort study. The patients underwent PSE according to the protocols of dipyridamole (0.84 mg/kg with up to 1.0 mg of atropine) or dobutamine (5-40 ug/kg/min associated with up to 2.0 mg/atropine). They were monitored through reference to medical records, phone calls or interview with the assistant physician. The clinical outcome was the combination of cardiovascular death, acute myocardial infarction, unstable angina and need for surgical or percutaneous myocardial revascularization. Results:We evaluated 291 patients, 59.5% women, mean age of 65 ± 9.6 years. The symptoms were atypical precordial chest pain (60%), typical precordial chest pain in 12%, and 24% asymptomatic. The median follow-u...