Takotsubo cardiomyopathy in a patient with Addison disease: is apical ballooning always reversible?

Takotsubo cardiomyopathy is characterized by acute ventricular dysfunction in the absence of coronary obstruction. Complete improvement of ventricular function is seen in the vast majority of the patients. We describe a 40-year-old woman with Addison disease who experienced Takotsubo cardiomyopathy but with persistent apical dysfunction during 5-month-follow up.     

Dilated cardiomyopathy: a disease of the intercalated disc?

The contractile tissue of the heart is composed of individual cells, making specific cell-cell contacts necessary to ensure mechanical and electrochemical coupling during beating. These contact sites, termed the intercalated discs, have gained increased attention recently due to their potential involvement in cardiac disease. This article discusses how the intercalated discs are assembled during heart development and how they are affected in cardiomyopathy, with particular emphasis on dilated cardiomyopathy. A model is proposed to relate the alterations that are seen at a molecular level with changes in function observed in that kind of cardiac disease.     

Left ventricular noncompaction in a patient with fabry disease: overdiagnosis, morphological manifestation of fabry disease or two unrelated rare conditions in the same patient?

We report a clinical case of a young female with Fabry disease but without left ventricular hypertrophy, which fulfills the diagnostic criteria of left ventricular noncompaction (LVNC). To our knowledge, this is the first report of LVNC in a patient with Fabry disease. The possibility of an overdiagnosis of LVNC is discussed based on the limitations of the current diagnostic criteria. This case was further investigated by genetic analysis, which came to demonstrate the limited usefulness of genetic testing in the diagnosis of LVNC. Assuming a true trabecular pattern of LVNC, the hypothesis that the same patient has two unrelated and rare conditions, although possible, is unlikely. The genetic and clinical heterogeneity of LVNC is discussed and supports, along with this clinical case, the hypothesis that LVNC is a morphological expression of different diseases rather than a distinct cardiomyopathy. Accordingly, LVNC could be a rare cardiac manifestation of Fabry disease.     

A case of Noonan syndrome and Whipple＇s disease in the same patient

We report the first known case of both Noonan syndrome and Whipple＇s disease occurring in the same patient, A 36-year-old female with history of Noonan syndrome developed fatigue, anorexia, arthritis of the knees and hands with a diffuse hyperpigmented rash, night sweats, and an unintentional fifteen pound weight loss over 4 mo, Small bowel enteroscopy demonstrated mild edematous yellowish mucosa without friability, Random small bowel biopsies revealed extensive periodic acid-Schiff positive material within the foamy macrophages, She was treated with a 12 mo course of trimethoprim-sulfamethoxazole DS with clinical improvement to baseline status.     

Apathy and impulsiveness in Parkinson disease: Two faces of the same coin?

Apathy and impulsiveness are 2 common non-motor symptoms in Parkinson disease that could occur in different periods or simultaneously. Apathy and impulsiveness could be interpreted as opposite extremes of a spectrum of motivated behavior dependent on dopaminergic dysfunction, in which, impulsivity, is a result of a hyperdopaminergic state, whereas apathy is viewed as a hypodopaminergic. The study aimed to investigate the presence of impulsiveness and other neuropsychiatric symptoms in Parkinson disease patients with apathy symptoms.Eighty-one patients with Parkinson disease were enrolled in this retrospective study. All subjects were evaluated by the Italian version of the Dimensional Apathy Scale and the Barratt Impulsiveness Scale-version 11, to assess, respectively, apathy and impulsiveness; they were divided into 2 groups (apathy and no apathy). All patients were administered also with questionnaires assessing depressive and anxious symptoms.Statistical analyses showed relevant results. In no-apathy group, education was a significant predictor on impulsiveness (attentional and motor) and apathy (executive and emotional); depression was a significant predictor on planning impulsivity and apathy.This study aimed to consider the importance of apathy and impulsivity in Parkinson disease. Although these are considered as opposite extremes of a spectrum of motivated behavior dependent on dopaminergic dysfunction, these can also occur separately. Moreover, several variables could represent important predictors of apathy and impulsiveness, such as depression. Future investigations should deepen the role of other demographics and psychological variables.     

Ulcerative colitis followed by the development of Behçet's disease

A 34-year-old man who had a history of ulcerative colitis (UC) was admitted to our hospital with complaints of arthralgia, erythema nodosum, recurrent oral aphthous ulcers and bloody stools. A colonoscopy revealed multiple aphthous ulcers on his cecum and colon and also revealed a transmural ulcer on his rectum consistent with a diagnosis of UC. The patient was HLA-B51 positive. Based on clinical evidence [recurrent oral ulcers, skin lesions (erythema nodosum), positivity for pathergy test] this patient was diagnosed as having Beh?et's disease with gastrointestinal involvement. We describe this rare case of Beh?et's disease with colitis and discuss the difficulties in making a differential diagnosis between Beh?et's disease and the inflammatory bowel diseases.     

Hearing disturbances in hypertrophic cardiomyopathy. Is the sensorineural disorder neurogenic or myogenic?

Nestin is a type of intermediate filament abundantly expressed in neuroepithelial stem cells or mesenchymal stem cells. We assessed directional coronary atherectomy specimens from primary and restenotic lesions for expression of nestin. Immunohistochemistry showed predominant expression of nestin in stellate smooth muscle cells (SMCs). Given that nestin has been proposed to be a marker for putative stem cells, our results suggest that human coronary plaques contain cells that have the potential for multiple lineages. Although the role of nestin remains unclear, nestin-positive stellate SMCs are more frequently seen in patients with unstable angina.     

Myocardial dysfunction in the elderly: A form of cardiomyopathy?

Abstracts

Myocardial dysfunction in the elderly: A form of cardiomyopathy?     

Multiple ICD shocks in a patient with dilated cardiomyopathy: What is the mechanism?

We present the case of a 45‐year‐old male patient with dilated cardiomyopathy who suffers from multiple implantable cardioverter defibrillator (ICD) shocks. The analysis of the ICD tracing and the electrophysiological study allows to conclude that bundle branch re‐entrant tachycardia is the most likely diagnosis, even in absence of conduction abnormalities in his basal electrocardiography.     

Systolic and diastolic heart failure: Different phenotypes of the same disease?

Traditional pathophysiological concepts of chronic heart failure have largely focused on the haemodynamic consequences of ventricular systolic dysfunction. How these concepts relate to the pathophysiology of diastolic heart failure, i.e., heart failure with a preserved ejection fraction is, however, unclear, causing uncertainty about pathophysiology, diagnosis and management. Recent measurements of regional myocardial systolic function in patients with diastolic heart failure indicate that systolic and diastolic heart failure may be more closely related than previously anticipated. Rather than being considered as separate diseases with a distinct pathophysiology, systolic and diastolic heart failure may be merely different clinical presentations within a phenotypic spectrum of one and the same disease. In this review, we will interpret these new insights in a broader conceptual context of chronic heart failure and design novel paradigms in which systolic and diastolic heart failure jointly progress in a pathophysiological time trajectory of only one disease.