Global Cardiology Science and Practice - Volume 2012, Issue 1

The term “cardiomyopathies” was used for the first time 55 years ago, in 1957. Since then awareness and knowledge of this important and complex group of heart muscle diseases have improved substantially. Over these past five decades a large number of definitions, nomenclature and schemes, have been advanced by experts and consensus panel, which reflect the fast and continued advance of the scientific understanding in the field.

Cardiomyopathies are a heterogeneous group of inherited myocardial diseases, which represent an important cause of disability and adverse outcome. Although considered rare diseases, the overall estimated prevalence of all cardiomyopathies is at least 3% in the general population worldwide. Furthermore, their recognition is increasing due to advances in imaging techniques and greater awareness in both the public and medical community.

Cardiomyopathies represent an ideal translational model of integration between basic and clinical sciences. A multidisciplinary approach is therefore essential in order to ensure their correct diagnosis and management.

In the present work, we aim to provide a concise overview of the historical background, genetic and phenotypic spectrum and evolving concepts leading to the various attempts of cardiomyopathy classifications produced over the decades.

Genetics have undoubtedly become an integral part of biomedical science and clinical practice, with important implications in deciphering disease pathogenesis and progression, identifying diagnostic and prognostic markers, as well as designing better targeted treatments. The exponential growth of our understanding of different genetic concepts is paralleled by a growing list of genetic terminology that can easily intimidate the unfamiliar reader. Rendering genetics incomprehensible to the clinician however, defeats the very essence of genetic research: its utilization for combating disease and improving quality of life. Herein we attempt to correct this notion by presenting the basic genetic concepts along with their usefulness in the cardiology clinic. Bringing genetics closer to the clinician will enable its harmonious incorporation into clinical care, thus not only restoring our perception of its simple and elegant nature, but importantly ensuring the maximal benefit for our patients.

Background The role of a tailored surgical approach for hypertrophic cardiomyopathy (HCM) on regional ventricular remodelling remains unknown. The aims of this study were to evaluate the pattern, extent and functional impact of regional ventricular remodelling after a tailored surgical approach. Methods From 2005 to 2008, 44 patients with obstructive HCM underwent tailored surgical intervention. Of those, 14 were ineligible for cardiac magnetic resonance (CMR) studies. From the remainder, 14 unselected patients (42 ± 12 years) underwent pre- and post-operative CMR studies at a median 12 months post-operatively (range 4–37 months). Regional changes in left ventricular (LV) thickness as well as global LV function following surgery were assessed using CMR Tools (London, UK). Results Pre-operative mean echocardiographic septal thickness was 21 ± 4 mm and mean LV outflow gradient was 69 ± 32 mmHg. Following surgery, there was a significant degree of regional regression of LV thickness in all segments of the LV, ranging from 16% in the antero-lateral midventricular segment to 41% in the anterior basal segment. Wall thickening was significantly increased in basal segments but showed no significant change in the midventricular or apical segments. Globally, mean indexed LV mass decreased significantly after surgery(120 ± 29 g/m² versus 154 ± 36 g/m²p < 0.001). There was a trend for increased indexed LV end-diastolic volume (70 ± 13 mL versus 65 ± 11 mL; p = 0.16 with a normalization of LV ejection fraction (68 ± 7% versus 75 ± 9%; p< 0.01). Conclusion Following a tailored surgical relief of outflow obstruction for HCM, there is a marked regional reverse LV remodelling. These changes could have a significant impact on overall ventricular dynamics and function.

Heart failure with preserved ejection fraction (HFpEF) has recently emerged as a major cause of cardiovascular morbidity and mortality. Contrary to initial beliefs, HFpEF is now known to be as common as heart failure with reduced ejection fraction (HFrEF) and carries an unacceptably high mortality rate. With a prevalence that has been steadily rising over the past two decades, it is very likely that HFpEF will represent the dominant heart failure phenotype over the coming few years. The scarcity of trials in this semi-discrete form of heart failure and lack of unified enrolment criteria in the studies conducted to date might have contributed to the current absence of specific therapies. Understanding the epidemiological, pathophysiological and molecular differences (and similarities) between these two forms of heart failure is cornerstone to the development of targeted therapies. Carefully designed studies that adhere to unified diagnostic criteria with the recruitment of appropriate controls and adoption of practical end-points are urgently needed to help identify effective treatment strategies.

Endomyocardial fibrosis is a form of endemic restrictive cardiomyopathy that affects mainly children and adolescents, and is geographically restricted to some poor areas of Africa, Latin America and Asia. It is a condition with high morbidity and mortality, for which no effective therapy is available. Although several hypotheses have been proposed as triggers or causal factors for the disease, none are able to explain the occurrence of the disease worldwide.

In endemic areas of Africa endomyocardial fibrosis is as common a cause of heart failure as rheumatic heart disease, accounting for up to 20% of cases of heart failure and imposes a considerable burden to the communities and the health systems. However, due to lack of resources for research in these areas, the exact epidemiology, etiology and pathogenesis remain unknown, and the natural history is incompletely understood.

We here review the main aspects of epidemiology, natural history, clinical picture and management of endomyocardial fibrosis, proposing new ways to increase research into this challenging and neglected cardiovascular disease.

Venous aneurysms are relatively rare anomalies which can affect different parts of the vascular system. Diagnosis and management of this condition could pose important problems. We here report a giant false aneurysm of the subclavian vein with emphasis on the thought process that determined the management strategy.