Echocardiographic evaluation of calcific aortic stenosis in the older adult

Aortic stenosis is the most predominant valvular pathology occurring in older adults with an expected increase over time. Multiple comorbidities and highly variable clinical presentations which characterize the aging population necessitate the use of echocardiography in the assessment of valvular structure and real time hemodynamic evaluation. This article reviews the pathophysiology and clinical presentation of aortic stenosis in this unique population and the critical role of various echocardiographic modalities. The value of real time three-dimensional real time echocardiography in the assessment and management of aortic stenosis in older adults is emphasized.     

Management of adults with paediatric-onset chronic liver disease: Strategic issues for transition care

Advances in the management of children with chronic liver disease have enabled many to survive into adulthood with or without their native livers, so that the most common of these conditions are becoming increasingly common in adult hepatology practice. Because the aetiologies of chronic liver disease in children may vary significantly from those in adulthood, adults with paediatric-onset chronic liver disease may often present with clinical manifestations unfamiliar to their adulthood physician.Transition of medical care to adult practice requires that the adulthood medical staff (primary physicians and subspecialists) have a comprehensive knowledge of childhood liver disease and their implications, and of the differences in caring for these patients. Pending still unavailable Scientific Society guidelines, this article examines causes, presentation modes, evaluation, management, and complications of the main paediatric-onset chronic liver diseases, and discusses key issues to aid in planning a program of transition from paediatric to adult patients.     

Ventricular septal defects in adults.

Because congenital ventricular septal defects are of different sizes and locations, their clinical presentation, natural history, and treatment vary greatly. This review discusses the different types of ventricular septal defects commonly seen in adults in the authors' experience and in published literature. Ventricular septal defects are either isolated small defects or larger defects associated with pulmonary stenosis, pulmonary hypertension, or aortic regurgitation. These associations play an important role in the pathophysiologic consequences of the defect, its long-term complications, and treatment options. Knowledge of the different clinical presentations in adulthood and the specific features pertinent to these defects will help in the assessment and the care of adult patients with one of the most common congenital cardiac malformations.     

Extra-meningeal meningococcal infection: report of 14 cases

INTRODUCTION AND METHOD: Fifty-five patients (17 adults, 38 children) with meningococcal infection were admitted between 1986 and 2002 in a university hospital (500 beds). Fourteen of them (nine adults, five children) presented with an extra-meningeal infection. We compared adults and children presentations. RESULTS: All adults had immunodeficiency. Septic locations were various (three bacteriemia, four pneumoniae, one infected ascitis, one cutaneous abscess). All patients received amoxicillin or third generation cephalosporin. Hospitalisation was prolonged (mean: 47 days). Seven patients required intensive care unit admission, and two of them died. All children (all were less than 36-month-old) presented with fever. Only one was immunodeficient (infected by human immunodeficiency virus). Neisseria meningitidis grew from blood in four, and in the throat for the remaining one. Hospitalisation was of short duration (mean: 4 days) and none of the children required intensive care unit. All the children recovered rapidly with antibiotics. CONCLUSION: Outcome of extra-meningeal infection with N. meningitidis is different in adults and children. Adults present with immunodeficiency, infection is severe and patients present with various clinical features; children have a more homogeneous clinical presentation (fever) and outcome is excellent.     

Diagnosis and management of adult hereditary cardio-neuromuscular disorders: A model for the multidisciplinary care of complex genetic disorders

Genetic disorders that disrupt the structure and function of the cardiovascular system and the peripheral nervous system are common enough to be encountered in routine cardiovascular practice. Although often these patients are diagnosed in childhood and come to the cardiologist fully characterized, some patients with hereditary neuromuscular disease may not manifest until adulthood and will present initially to the adult cardiologist for an evaluation of an abnormal ECG, unexplained syncope, LV hypertrophy, and or a dilated cardiomyopathy of unknown cause. Cardiologists are often ill-equipped to manage these patients due to lack of training and exposure as well as the complete absence of practice guidelines to aid in the diagnosis and management of these disorders. Here, we review three key neuromuscular diseases that affect the cardiovascular system in adults (myotonic dystrophy type 1, Friedreich ataxia, and Emery–Dreifuss muscular dystrophy), with an emphasis on their clinical presentation, genetic and molecular pathogenesis, and recent important research on medical and interventional treatments. We also advocate the development of interdisciplinary cardio-neuromuscular clinics to optimize the care for these patients.     

Anomalous Origin of the Left Coronary Artery from the Pulmonary Artery: A Case Series and Brief Review

Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital cardiovascular defect that occurs in approximately 1/300 000 live births or 0.5% of children with congenital heart disease. The mortality of untreated ALCAPA has been estimated to range from 35% to greater than 85% in the first year of life. However, in some cases patients can survive past infancy and into adulthood and do not present with symptoms until later in life. These older patients often manifest their anomalies as congestive heart failure, malignant arrhythmias, or even sudden death. We report a series of 3 cases from our institution illustrating the various late presentations of this unusual diagnosis. We review the pathophysiology of this rare congenital anomaly and discuss some of the signs, symptoms, and diagnostic tests that can help diagnose this unusual condition in adults.     

Surgical management of double-chambered right ventricle in adults

Double-chambered right ventricle is a congenital anomaly in which the right ventricle is divided into 2 portions by anomalous muscle bundles. These cases often present in children, but rarely in adults. We discuss 2 cases of double-chambered right ventricle, in patients aged 42 and 35 years. When cases remain asymptomatic until adulthood, they can present with unusual symptoms that lead to incorrect diagnosis. Our cases represent 2 very different manifestations of double-chambered right ventricle, which differ in presentation, in the site of abnormal obstructive muscle bundles, and in the presence of associated lesions. Both of our patients underwent successful surgical resection of the obstruction. One patient also underwent closure of a ventricular septal defect. We also review the literature on the various mechanisms that have been proposed to account for the complex morphology of the abnormal muscle bundles.     

Diagnosis of illness presentation in the elderly

In the standard medical model of diagnosis, there is a 1:1 correspondence between clinical symptoms and signs and a pathological disease process. However, it is believed that this model does not accurately define many illness presentations in elderly patients. The frequency with which the medical model is diagnostically accurate, and the other models that might more effectively diagnose geriatric illness, are unknown. This study was designed to ascertain the frequency with which the medical model of diagnosis pertains in a clinical population of older adults and to develop and validate alternative models for diagnosis of illness presentation in this population. Using a retrospective chart review (n = 86) and a prospective validation in a second sample (n = 56) of geriatric assessment clinic patients, it was found that the medical model of illness fit less than half of the patients. To describe the illness presentations of the remaining patients, four new diagnostic models of illness presentation were identified which incorporate comorbidity, functional, and psychosocial factors. Use of these new models along with the medical model of illness diagnosis may assist in more accurate and complete diagnosis in elderly patients and enhance teaching of effective diagnosis in geriatric medicine.     

Surgical repair of double-chambered right ventricle in adulthood

The aim of this study was to investigate a rare subset of adult patients with double-chambered right ventricle, pertaining to clinical presentation, rhythm disturbances, surgical approach, and results of surgical repair. A retrospective review of our records revealed that 14 adults had undergone surgical repair of double-chambered right ventricle from 1990 to 2010. Their median age was 25.5 years, and their median weight was 50 kg. Patients presented with various symptoms, the most common being dyspnea on exertion. The mean systolic pressure gradient across the obstruction was 69.8 ± 23.1mm Hg. The most common associated anomaly was ventricular septal defect. Significant rhythm disturbances were present in 4 patients. Transatrial repair was undertaken in 5 patients, a combined transatrial and transpulmonary approach was used in 4, and a right ventriculotomy in 5. There was no mortality at a median follow-up of 5.1 years. A mild right ventricular outflow tract gradient was noted in 2 patients. Medical management was required for rhythm disturbances in 2 patients. Double-chambered right ventricle can present in adulthood, often with vague symptoms. The midterm results of surgical correction are satisfactory. Long-term follow-up is necessary to detect late arrhythmias.     

Coeliac disease

Increased awareness of non-classical presentations and more reliable screening tests have led to higher detection rates for coeliac disease in elderly adults. Clinical presentations are influenced largely by the long-standing course of the subclinical disease before diagnosis. In the majority of elderly patients, weight loss, diarrhoea and iron deficiency anaemia are present. With a delay in diagnosis, there are increased risks of associated autoimmune diseases, of neoplasms (mostly small bowel lymphoma) and of metabolic bone diseases. Thyroid disease is the most common autoimmune disease. Lymphoma may be the initial presentation or may complicate the clinical course of well established coeliac disease. Osteopenia is very common at presentation, can be clinically severe and require specific therapy in addition to the gluten-free diet. The high risk of complications in elderly patients with coeliac disease warrants a systematic approach in their investigation and management.     

Adult Presentation of Interrupted Aortic Arch: Case Presentation and a Review of the Medical Literature

Interrupted aortic arch (IAA) is a rare congenital abnormality that presents in infancy. Isolated cases have been reported in adulthood, which are likely presentations of severe coarctation of the aorta. We present two such cases of adult presentation of IAA and a review of previously reported cases in the medical literature and current recommendations for management and follow‐up of these patients.     

Ebstein’s anomaly of the tricuspid valve

Ebstein's anomaly of the tricuspid valve is a rare lesion comprising less than 1% of patients with congenital heart disease. Among congenital heart lesions, Ebstein's anomaly is one of the most diverse in presentation, severity, and management. In its most severe form, it is also one of the most lethal. In this article we present a case of a patient who developed cardiac symptoms in adulthood. We follow this with a review of the pathology, clinical presentation, evaluation, and management of Ebstein's anomaly.     

Tumour-like presentations of anogenital herpes simplex in HIV-positive patients

Genital and perianal ulcers seen in patients with HIV are commonly due to herpes simplex virus (HSV) infection. While it is well known that the characteristic presentation of HSV is a vesicular rash or crops of erosions, the clinical presentation of genital HSV infection in HIV is varied and can assume vegetative, hypertrophic, condyloma-like, nodular, ulcerative and tumour-like nodules or plaques. These unusual presentations often lead to a delayed diagnosis. We describe five immunocompromised HIV-positive patients with CD4 counts ranging from 114 to 326 cells/μL with unusual presentations of anogenital herpes.     

Clinical presentation of celiac disease among pediatric compared to adolescent and adult patients

Background

Celiac disease (CD) is being increasingly recognized in adults though a majority of patients continue to be diagnosed in childhood.

Aim

To compare the clinical presentation and profile of newly diagnosed pediatric and adolescent/adult CD patients.

Materials and Methods

Retrospective analysis of patients diagnosed with CD between year 1997 and 2007 in the pediatric group, and between year 2000 and 2007 in the adolescent/adult group was done for clinical presentation, endoscopic findings and duodenal histology.

Results

A total of 434 children and 298 adults were studied. The mean age of diagnosis was 6.5?±?2.5?years (1?C11?years) in children and 29.3?±?13.3?years (6?C73?years) in adolescent/adults. The mean duration of symptoms before diagnosis was 3.5?±?2.5?years in children and 4.9?±?4.6?years in the latter. Diarrhea as the presenting symptom was seen in 74?% of children and 58.7?% of adolescent/adults. Anemia (on investigations) was seen in 84?% of children and 94?% of adolescent/adults.

Conclusions

Pediatric patients of CD present more often with typical features than adults. Atypical presentations are more common in adults and the latent period for diagnosis is also longer in adolescent/adults. There is a need for increasing awareness about CD, both among pediatricians and physicians caring for adult patients.     

Coronary artery fistulas: clinical and therapeutic considerations

Coronary artery fistulas vary widely in their morphological appearance and presentation. These fistulas are congenital or acquired coronary artery abnormalities in which blood is shunted into a cardiac chamber, great vessel, or other structure, bypassing the myocardial capillary network. The majority of these fistulas arise from the right coronary artery and the left anterior descending coronary artery; the circumflex coronary artery is rarely involved. Clinical manifestations vary considerably and the long-term outcome is not fully known. The patients with coronary fistulas may present with dyspnea, congestive heart failure, angina, endocarditis, arrhythmias, or myocardial infarction. A continuous murmur is often present and is highly suggestive of a coronary artery fistula. Differential diagnosis includes persistent ductus arteriosus, pulmonary arteriovenous fistula, ruptured sinus of Valsalva aneurysm, aortopulmonary window, prolapse of the right aortic cusp with a supracristal ventricular septal defect, internal mammary artery to pulmonary artery fistula, and systemic arteriovenous fistula. Although noninvasive imaging may facilitate the diagnosis and identification of the origin and insertion of coronary artery fistulas, cardiac catheterization and coronary angiography is necessary for the precise delineation of coronary anatomy, for assessment of hemodynamics, and to show the presence of concomitant atherosclerosis and other structural anomalies. Treatment is advocated for symptomatic patients and for those asymptomatic patients who are at risk for future complications. Possible therapeutic options include surgical correction and transcatheter embolization. Historical perspectives, demographics, clinical presentations, diagnostic evaluation, and management of coronary artery fistula are elaborated.     

Acute coronary syndromes: initial evaluation and risk stratification

Chest pain, the second most frequent presenting complaint in the emergency department (ED), often poses a challenge to the physicians dealing with these patients owing to the wide spectrum of presentation of acute coronary syndromes (ACS). A majority of the patients presenting with chest pain are usually admitted to the hospital for further evaluation and management. Despite the availability of modern-day tools for diagnosis of acute myocardial infarction (AMI), about 5% of patients with AMI are missed in the ED with subsequent associated morbidity and mortality and legal consequences. Several centers have adapted critical pathways derived from American College of Cardiology/American Heart Association (ACC/AHA) guidelines for the management of patients presenting with ACS. We now have some evidence suggesting adherence to the critical pathways derived from ACC/AHA guidelines will optimize the quality of patient care and probably result in better patient outcomes. This article reviews initial evaluation and the importance of risk stratification of the patients presenting with chest pain using the currently available clinical and diagnostic tools. Critical pathways derived from the ACC/AHA guidelines for various presentations of ACS are also reviewed.     

Celiac sprue (the great modern-day imposter)

PURPOSE OF REVIEW: To review the current epidemiological information on celiac disease and the various presentations and associated. RECENT FINDINGS: Epidemiologic studies reveal celiac disease to be common, occurring in approx. 1% of the population. It is being diagnosed worldwide, even in developing countries. The classic mode of presentation has become less common, with diarrhea or a malabsorption syndrome as the mode of presentation in fewer than 50% of individuals. The other major modes of presentation are iron-deficiency anemia, osteoporosis, screening of family members, or incidentally at endoscopy done for dyspepsia or reflux. Neurological presentations may include peripheral neuropathy or ataxia. Arthritis is commonly found in patients with celiac disease when systematically sought. Patients often have a previous diagnosis of irritable bowel syndrome. Autoimmune diseases occur more frequently (three to ten times more) in those with celiac disease than the general population. However, this increased incidence of autoimmune diseases is not prevented by early diagnosis of celiac disease. SUMMARY: We will review the various associated diseases/presentations of celiac disease. The heterogeneity of the symptoms can make the diagnosis challenging and certainly the great modern-day imposter.     

Bilateral psoas abscesses in an HIV-positive patient

Patients with HIV can often present a diagnostic challenge and may have atypical presentations of more common diseases. This case demonstrates such a scenario; we describe a 35-year-old man with a recent diagnosis of HIV infection complaining of backache, anorexia and weight loss. On investigation he was found to have bilateral tuberculous psoas abscesses. A review of the literature shows that this is a rare presentation of an already unusual problem, with subtle signs requiring a high index of clinical suspicion. However, with HIV-positive patients more likely to present with extrapulmonary tuberculosis, there is need for increased awareness of this diagnosis.     

Diagnostic problems in adult celiac disease]

INTRODUCTION: Celiac disease (CD) is a chronic immune-mediated enteropathy, resulting from a gluten intolerance in genetically predisposed individuals. OBJECTIVE: a) to describe clinical features, associated disorders and serology of CD in adults; and b) to study the main that serology displays in diagnosis, clinical and histological expression. PATIENTS AND METHODS: 31 patients diagnosed of CD in adulthood have been reviewed retrospectively, including clinical presentation, associated disorders, biochemical results, serological tests (anti-gliadin and anti-endomysial antibodies) and genetical features (HLA-DQ2). It has been studied the relation between typical presentations and AEm with clinical, serological or histological findings. RESULTS: Almost 50% of patients had atypical clinical manifestations and gastrointestinal symptoms were absent in 33%. Typical manifestations are associated with villous atrophy stage III b-c of Marsh's classification (87 vs. 53%, p = 0,03). 70% of patients shows AEm mostly in women (78 vs. 37%, p = 0.03) and stage III b-c of Marsh (84 vs. 50%, p = 0.05). 68,4% were DQ2 positive. CONCLUSIONS: Clinical features of CD varies greatly. AEm and DQ2 are less common than others studies. There may be an association with clinical and serological findings and villous atrophy stage. Genetical features could help AEm in diagnosis.