RESUMO
BACKGROUND: Familial ST-depression syndrome is an inherited disease characterized by persistent, nonischemic ST-deviations, and risk of arrhythmias and heart failure. We aimed at further characterizing the ECG, arrhythmias, and structural characteristics associated with this novel syndrome. METHODS: Retrospective analysis of data from consecutive families with familial ST-depression Syndrome in Denmark. ECG features, prevalence and type of arrhythmias, occurrence of systolic dysfunction, and medium-term outcome were analyzed. RESULTS: Forty affected individuals (43% men; mean age at diagnosis 49.1 years) from 14 apparently unrelated families with ≥2 affected members were included. Autosomal dominant inheritance was observed in all families. The ECG phenotype seemed to develop in prepuberty and the ST-deviations were persistent and most pronounced in leads V4/V5/II, respectively. Serial ECG analyses showed stable to slow progression of the ECG phenotype. Exercise accentuated the ST-deviations with a maximum difference between rest/stress (mean) of -117 µV in lead V5. During a mean follow-up of 9.3±7.1 years 5 (13%) patients developed sustained ventricular arrhythmias or (aborted) sudden cardiac death, 10 (25%) developed atrial fibrillation, 2 (5%) other supraventricular arrhythmias, and 10 (25%) were diagnosed with left ventricular ejection fraction ≤50%. The ventricular arrhythmias were polymorphic with relatively short-coupled premature ventricular contractions at onset (300-360 ms); no QT prolongation was observed. Seven patients had at least one catheter ablation; 5 for supraventricular arrhythmias and 2 for ventricular arrhythmias. Males experienced more arrhythmic end points than females (P<0.01). CONCLUSIONS: The familial ST-depression ECG phenotype is stable to slowly progressive after medium-term follow-up. Clinically, both supra- and ventricular arrhythmias are common; as are some degree of left ventricular systolic dysfunction. Familial ST-depression represent a novel inherited cause of polymorphic ventricular tachycardia.
Assuntos
Depressão , Complexos Ventriculares Prematuros , Eletrocardiografia , Feminino , Humanos , Masculino , Estudos Retrospectivos , Volume Sistólico , Função Ventricular EsquerdaRESUMO
INTRODUCTION: Cell differential count (CDC) of induced sputum is considered the gold standard for inflammatory phenotyping of asthma but is not implemented in routine care due to its heavy time- and staff demands. Digital Cell Morphology is a technique where digital images of cells are captured and presented preclassified as white blood cells (neutrophils, eosinophils, lymphocytes, macrophages, and unidentified) and nonwhite blood cells for review. With this study, we wanted to assess the accuracy of an automated CDC in identifying the key inflammatory cells in induced sputum. METHODS: Sputum from 50 patients with asthma was collected and processed using the standard processing protocol with one drop 20% albumin added to hinder cell smudging. Each slide was counted automatically using the CellaVision DM96 and manually by an experienced lab technician. Sputum was classified as eosinophilic or neutrophilic using 3% and 61% cutoffs, respectively. RESULTS: We found a good agreement using intraclass correlation for all target cells, despite significant differences in the cell count rate. The automated CDC had a sensitivity of 65%, a specificity of 93%, and a kappa-coefficient of 0.61 for identification of sputum eosinophilia. In contrast, the automated CDC had a sensitivity of 29%, a specificity of 100%, and a kappa-coefficient of 0.23 for identification of sputum neutrophilia. CONCLUSION: Automated- and manual cell counts of sputum agree with regards to the key inflammatory cells. The automated cell count had a modest sensitivity but a high specificity for the identification of both neutrophil and eosinophil asthma.
Assuntos
Asma , Eosinofilia Pulmonar , Asma/diagnóstico , Contagem de Células , Eosinófilos , Humanos , Contagem de Leucócitos , Neutrófilos , EscarroRESUMO
Insight into predictors of cardiac involvement in inflammatory myopathies is sparse. A negative prognostic role of anti-mitochondrial antibodies (AMA) has been noticed and is supported by the current case. We describe a male patient who at the age 40 suffered a cardiac arrest and over the following months experienced progressive heart failure, arrhythmias and proximal muscle weakness. Clinical, genetic and serologic testing and repeated imaging- and histopathological investigations resulted in a diagnosis of AMA-associated, necrotizing, inflammatory myositis with cardiac involvement. Besides a cardiac resynchronization therapy defibrillator, heart failure and antiarrhythmic drugs the patient received successive immunosuppressants, which improved skeletal muscle strength but not cardiac disease progression. At age 45 he died from end-stage heart failure. Clinicians must be aware of AMA-associated myositis as a cause of unclarified heart disease, even in patients with initially sparse extra-cardiac manifestations. Further knowledge of treatment strategies is highly needed for this disease entity.