Kartagener's syndrome: a case report

Kartagener's syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive inherited disease, and is characterized by the triad of chronic sinusitis, bronchiectasis, and situs inversus. This paper reports the case of a 27-year-old female presenting with dyspnea on medium exertion, accompanied by chronic cough, non-productive or with clear expectoration. She had recurrent pneumonia until 15 years of age and underwent a lobectomy in the lower lobe of the left lung, probably due to bronchiectasis. Chest computed tomography showed situs inversus totalis, signs of previous surgical manipulation, and mild bronchial thickening. Computed tomography of the paranasal sinuses showed signs of chronic sinusitis due to a probable ciliary kinesis disorder. These finding suggest the diagnosis of Kartagener's syndrome. The prognosis reveals a slow rate of decline in lung function. However, repeated or chronic infections can negatively influence the quality of life of these patients.

Pulmonology approach in the investigation of chronic unexplained dyspnea.

Chronic unexplained dyspnea and exercise intolerance represent common, distressing symptoms in outpatients. Clinical history taking and physical examination are the mainstays for diagnostic evaluation. However, the cause of dyspnea may remain elusive even after comprehensive diagnostic evaluation-basic laboratory analyses; chest imaging; pulmonary function testing; and cardiac testing. At that point (and frequently before), patients are usually referred to a pulmonologist, who is expected to be the main physician to solve this conundrum. In this context, cardiopulmonary exercise testing (CPET), to assess physiological and sensory responses from rest to peak exercise, provides a unique opportunity to unmask the mechanisms of the underlying dyspnea and their interactions with a broad spectrum of disorders. However, CPET is underused in clinical practice, possibly due to operational issues (equipment costs, limited availability, and poor remuneration) and limited medical education regarding the method. To counter the latter shortcoming, we aspire to provide a pragmatic strategy for interpreting CPET results. Clustering findings of exercise response allows the characterization of patterns that permit the clinician to narrow the list of possible diagnoses rather than pinpointing a specific etiology. We present a proposal for a diagnostic workup and some illustrative cases assessed by CPET. Given that airway hyperresponsiveness and pulmonary vascular disorders, which are within the purview of pulmonology, are common causes of chronic unexplained dyspnea, we also aim to describe the role of bronchial challenge tests and the diagnostic reasoning for investigating the pulmonary circulation in this context.

Responses to progressive exercise in subjects with chronic dyspnea and inspiratory muscle weakness.

INTRODUCTION: Inspiratory muscle weakness (IMW) is a potential cause of exertional dyspnea frequently under-appreciated in clinical practice. Cardiopulmonary exercise testing (CPET) is usually requested as part of the work-up for unexplained breathlessness, but the specific pattern of exercise responses ascribed to IMW is insufficiently characterized. OBJECTIVES: To identify the physiological and sensorial responses to progressive exercise in dyspneic patients with IMW without concomitant cardiorespiratory or neuromuscular diseases. METHODS: Twenty-three subjects (18 females, 55.2 ± 16.9 years) complaining of chronic daily life dyspnea (mMRC = 3 [2-3]) plus maximal inspiratory pressure < the lower limit of normal and 12 matched controls performed incremental cycling CPET. FEV1/FVC<0.7, significant abnormalities in chest CT or echocardiography, and/or an established diagnosis of neuromuscular disease were among the exclusion criteria. RESULTS AND CONCLUSION: Patients presented with reduced aerobic capacity (peak V̇O2: 79 ± 26 vs 116 ± 21 %predicted), a tachypneic breathing pattern (peak breathing frequency/tidal volume = 38.4 ± 22.7 vs 21.7 ± 14.2 breaths/min/L) and exercise-induced inspiratory capacity reduction (-0.17 ± 0.33 vs 0.10 ± 0.30 L) (all P < .05) compared to controls. In addition, higher ventilatory response (ΔV̇E/ΔV̇CO2 = 34.1 ± 6.7 vs 27.0 ± 2.3 L/L) and symptomatic burden (dyspnea and leg discomfort) to the imposed workload were observed in patients. Of note, pulse oximetry was similar between groups. Reduced aerobic capacity in the context of a tachypneic breathing pattern, inspiratory capacity reduction and preserved oxygen exchange during progressive exercise should raise the suspicion of inspiratory muscle weakness in subjects with otherwise unexplained breathlessness.

Pulmonology approach in the investigation of chronic unexplained dyspnea / Abordagem pneumológica na investigação de dispneia crônica inexplicada

ABSTRACT Chronic unexplained dyspnea and exercise intolerance represent common, distressing symptoms in outpatients. Clinical history taking and physical examination are the mainstays for diagnostic evaluation. However, the cause of dyspnea may remain elusive even after comprehensive diagnostic evaluation-basic laboratory analyses; chest imaging; pulmonary function testing; and cardiac testing. At that point (and frequently before), patients are usually referred to a pulmonologist, who is expected to be the main physician to solve this conundrum. In this context, cardiopulmonary exercise testing (CPET), to assess physiological and sensory responses from rest to peak exercise, provides a unique opportunity to unmask the mechanisms of the underlying dyspnea and their interactions with a broad spectrum of disorders. However, CPET is underused in clinical practice, possibly due to operational issues (equipment costs, limited availability, and poor remuneration) and limited medical education regarding the method. To counter the latter shortcoming, we aspire to provide a pragmatic strategy for interpreting CPET results. Clustering findings of exercise response allows the characterization of patterns that permit the clinician to narrow the list of possible diagnoses rather than pinpointing a specific etiology. We present a proposal for a diagnostic workup and some illustrative cases assessed by CPET. Given that airway hyperresponsiveness and pulmonary vascular disorders, which are within the purview of pulmonology, are common causes of chronic unexplained dyspnea, we also aim to describe the role of bronchial challenge tests and the diagnostic reasoning for investigating the pulmonary circulation in this context.

RESUMO A dispneia crônica inexplicada e a intolerância ao exercício representam sintomas comuns e angustiantes em pacientes ambulatoriais. O histórico clínico e o exame físico são as bases da avaliação diagnóstica. No entanto, a causa da dispneia pode permanecer inexplicada mesmo após uma avaliação diagnóstica abrangente - análises laboratoriais básicas, exames de imagem do tórax, testes de função pulmonar e testes cardíacos. Nesse momento (e frequentemente antes), os pacientes geralmente são encaminhados a um pneumologista, o qual se espera que seja o principal médico para a resolução desse enigma. Nesse contexto, o teste de exercício cardiopulmonar (TECP), para avaliação de respostas fisiológicas e sensoriais do repouso ao pico do exercício, proporciona uma oportunidade única de desvendar os mecanismos subjacentes à dispneia e as interações desses mecanismos com um amplo espectro de distúrbios. No entanto, o TECP é subutilizado na prática clínica, possivelmente por questões operacionais (custos dos equipamentos, disponibilidade limitada e baixa remuneração) e limitação da formação médica em relação ao método. Para enfrentar esta última deficiência, almejamos fornecer uma estratégia pragmática para a interpretação dos resultados do TECP. O agrupamento dos achados da resposta ao exercício permite a caracterização de padrões que possibilitam ao clínico restringir a lista de possíveis diagnósticos, em vez de apontar uma etiologia específica. Apresentamos uma proposta de avaliação diagnóstica e alguns casos ilustrativos avaliados por TECP. Como a hiper-responsividade das vias aéreas e os distúrbios vasculares pulmonares, que são da competência da pneumologia, são causas comuns de dispneia crônica inexplicada, também objetivamos descrever o papel dos testes de broncoprovocação e o raciocínio diagnóstico para a investigação da circulação pulmonar nesse contexto.

Tidal Flow-Volume Loop Enveloping at Rest in Advanced COPD.

BACKGROUND: Expiratory flow limitation (EFL) is a key physiological abnormality in COPD. Comparing tidal-to-maximum flow-volume (F-V) loops is a simple and widely available method to assess EFL in patients with COPD. We aimed to investigate whether subjects with COPD showing significant resting tidal F-V enveloping (ie, > 50% tidal volume) would present with higher exertional operating lung volumes, which would lead to greater burden of dyspnea and poorer exercise tolerance compared to their counterparts. METHODS: 37 subjects with COPD (21 males; 63.1 ± 9.2 years old; FEV1 = 37 ± 12% predicted) and 9 paired controls (3 males; 55.9 ± 11.7 y old) performed an incremental cardiopulmonary exercise testing on a cycle ergometer. Dyspnea perception, inspiratory capacity maneuvers after 3-4 sequential tidal F-V loops, and esophageal and gastric pressures were measured during exercise. RESULTS: Most subjects (31 of 37, 84%) presented with significant tidal F-V enveloping. Critical inspiratory constraints and upward dyspnea inflection points (as a function of both work rate and ventilation) were reached earlier in these subjects, thereby leading to poorer exercise tolerance compared to their counterparts (P = .01). Abdominal muscle recruitment (ie, increase in gastric pressure ≥ 15%) during tidal expiration was significantly higher in the EFL+ group. However, this did not bear an influence on the operating lung volumes, inspiratory constraints, dyspnea, cardiocirculatory responses, or exercise tolerance (P > .05). CONCLUSIONS: Tidal F-V loop enveloping at rest should be valued as it is related to relevant clinical outcomes, such as dyspnea burden and exercise tolerance in subjects with COPD.