[Appropriateness and surroundings: "Doing more does not mean doing better". Choosing Wisely, an unfulfilled commitment?] / Appropriatezza e dintorni. "Fare di più non significa fare meglio". Choosing Wisely: un impegno disatteso?

The attention of the medical community to the appropriateness of diagnostic and therapeutic procedures has increased in recent years, recognizing the need for a careful use of resources and for avoiding unnecessary and sometimes harmful medical tests, procedures and therapies. Not only healthcare providers, but also public, patients and politicians, should know the consequences of inappropriate decisions and behaviors. Indeed, inappropriateness has clinical (risks), economic (waste of resources), but also ethical implications (i.e. the use of unnecessary tests and treatments in a system characterized by limited resources).Inappropriateness is a complex entity and it may vary widely: in fact, it may be influenced by different clinical settings, techniques used, but also by data collection methods, size of the population considered, and the professional background of the physicians requesting a specific test or procedure.Various initiatives have been proposed with the aim at reducing the use of unnecessary tests and procedures but imposed rules appear to be of dubious effectiveness. On the contrary, the medical community needs more in-depth knowledge of the problem and an active commitment for reducing the waste of resources, especially because unnecessary or sometimes harmful interventions subtract resources where they are useful or necessary.Recently, the "Choosing Wisely" campaign, which has involved 18 countries and more than 70 scientific societies, has been one of the most well-known initiatives, launched in Italy by the "Slow Medicine" movement. The purpose is to disseminate the recommendations of scientific societies with the aim to promote processes of care based on appropriateness, but within a relation of dialogue and decision sharing with the patient and public.The Choosing Wisely campaign is certainly important and innovative. However, there are open and unsolved issues such as the lack of rigorous and systematic methods for the evaluation of the results of the proposed initiatives and the need for more widespread interventions both at the medical and community level.

Aortic valve replacement within an unexpected porcelain aorta: the sutureless valve option.

Four patients referred for surgical treatment of aortic stenosis presented an unexpected extremely calcified (porcelain) ascending aorta at the intraoperative epiaortic ultrasonography scanning. In each patient, replacement of the aortic valve was successfully performed using a sutureless implantable bioprosthesis during a short period of hypothermic circulatory arrest. In the era of transcatheter aortic valve implantation procedures, the sutureless valve may be a valuable option for surgical units that do not dispose of transcatheter technology or a hybrid operative theatre.

Heart failure and personalized medicine.

Personalized medicine is a form of medicine that uses the patient's genomic information to improve diagnosis, prevention and therapy. In this review we discuss the personalized management of heart failure, from monogenic disorders, to modifier genes and pharmacogenomics. Monogenic disorders causing heart failure are cardiomyopathies. In this disease, recent guidelines assist the clinician in molecular diagnostics, genetic counseling and therapeutic choices. Several lines of evidence suggest the existence of common polymorphic variants of genes that modify the susceptibility to heart failure (modifier genes). A candidate gene approach has shown that common genetic variants of the renin-angiotensin-adrenergic pathway can also influence heart failure and may be associated with different outcomes. However, still little is known regarding this and it is expected that more advanced high throughput technologies will allow the discovery of a number of novel modifier genes that could be used for prognostic profiling and development of novel therapeutics. Finally, pharmacogenomics of heart failure appears very promising. Common genetic variants of beta-adrenergic receptors, alpha-adrenergic receptors and endothelin receptors, among others, significantly alter the response to heart failure therapy. This knowledge could be used to personalize and optimize heart failure therapy based on the patient's genetic profile. Whereas the advances in technologies will continue to transition personalized medicine from research to the clinical setting, physicians, and in particular cardiologists, need to reshape clinical diagnostics paradigms, learn how to use new genomic information to change management decisions, and provide the patients with appropriate education and management recommendations.

The challenge of cardiomyopathies in 2007.

The last 20 years have seen impressive progress in the study of cardiomyopathies. The improved understanding of these diseases has made clear that cardiomyopathies are extremely complex entities that defy current classification standards. The 1980 and 1995 WHO/ISFC Task Forces, and very recently an American Heart Association (AHA) Scientific Statement expert panel, have systematically approached new advances as well as emerging problems. In spite of this effort and an increasingly growing understanding of myocardial disorders, several issues remain unresolved. Without a doubt, the identification of genetic defects responsible for many forms of cardiomyopathies has changed our perspective of myocardial diseases. In fact, in the last few years, we have seen that (1) clinically defined cardiomyopathies, previously considered single entities, are actually the result of mutations in different genes, (2) different mutations in the same gene may be the cause of different clinical entities and (3) in the group of cardiomyopathies, a large phenotypic and genetic heterogeneity exists that is expected to increase in the future. Genotype knowledge is a fundamental advance in medicine and in particular in the field of cardiomyopathies and is becoming increasingly more important in clinical practice for disease diagnosis and prevention, prognostic stratification and possible future therapies. Knowledge of the phenotype, including clinical, morphological and physiological features, however, continues to provide the clinical basis for diagnosis and classification of cardiomyopathies, prognostic evaluation and symptomatic treatment, and should not be abandoned.

[The natural history of dilated cardiomyopathy: a review of the Heart Muscle Disease Registry of Trieste]. / Come è cambiata la storia naturale della cardiomiopatia dilatativa. Una revisione del Registro delle Malattie del Miocardio di Trieste.

Dilated cardiomyopathy (DCM), a heart muscle disease characterized by ventricular dilation and dysfunction, is a leading cause of mortality and morbidity. In the present paper we will consider the main results of studies on the natural history of DCM in 581 consecutive patients prospectively enrolled and systematically followed in the Heart Muscle Disease Registry of Trieste in the last 25 years. In the last decades prognosis of DCM significantly improved over time, mainly as a consequence of optimized treatment with ACE-inhibitors and beta-blockers. However, a strong heterogeneity of prognosis was observed among patients both in familial and sporadic cases. Early diagnosis and treatment allowed to recognize two distinct subgroups, one with a rapidly progressive downhill course, high mortality and urgent indication to heart transplantation, another with a more favorable outcome. Long-term optimized treatment with ACE-inhibitors (in 90% of cases) and beta-blockers (in 87% of cases) was associated with a remarkable clinical improvement in 50% of patients and apparent "healing" in 16% of cases. A systematic and accurate echocardiographic follow-up showed in these cases a significant improvement of the left ventricular ejection fraction (LVEF) with "reverse remodeling", frequently associated with a decrease of severity of functional mitral regurgitation and regression of the restrictive filling pattern. The response to optimal treatment showed a strong relation to long-term outcome. The 8-year transplant-free survival, starting from the evaluation at 2 years, was 31% in patients with persistent NYHA class III-IV, 64% in NYHA class I-II and LVEF < or = 40%, 83% in NYHA class I-II and LVEF > 40% and 94% in patients with apparent "healing" (p < 0.0001). Long-term follow-up showed a significant clinical progression of the disease in 33% of cases, independently of the initial clinical response to treatment. Predictive factors of a favorable response to beta-blocker treatment associated with ACE-inhibitors were a history of mild hypertension, an early diagnosis and treatment and the presence of sinus tachycardia. The risk of sudden death was increased particularly in patients with long-term persistent or progressive left ventricular dilation and dysfunction. A rigorous pharmacological approach (optimization of beta-blockers, withdrawal or decrease of dosage of digitalis), and selective non-pharmacological strategy (automated implantable cardioverter-defibrillators for primary prevention in high-risk patients) are potentially effective to decrease the incidence of sudden death during long-term follow-up. In conclusion, the Heart Muscle Disease Registry of Trieste gave us in the last 25 years new insights into the natural history of DCM, underlying the importance of a rigorous and systematic approach both at clinical presentation and during long-term follow-up on optimized medical treatment.

[How the natural history of dilated cardiomyopathy has changed. Review of the Registry of Myocardial Diseases of Trieste]. / Come è cambiata la storia naturale della cardiomiopatia dilatativa. Una revisione del Registro delle Malattie del Miocardio di Trieste.

Dilated cardiomyopathy (DCM), a heart muscle disease characterized by ventricular dilation and dysfunction, is a leading cause of mortality and morbidity. In the present paper we will consider the main results of studies on the natural history of DCM in 581 consecutive patients prospectively enrolled and systematically followed in the Heart Muscle Disease Registry of Trieste in the last 25 years. In the last decades prognosis of DCM significantly improved over time, mainly as a consequence of optimized treatment with ACE-inhibitors and beta-blockers. However, a strong heterogeneity of prognosis was observed among patients both in familial and sporadic cases. Early diagnosis and treatment allowed to recognize two distinct subgroups, one with a rapidly progressive downhill course, high mortality and urgent indication to heart transplantation, another with a more favorable outcome. Long-term optimized treatment with ACE-inhibitors (in 90% of cases) and beta-blockers (in 87% of cases) was associated with a remarkable clinical improvement in 50% of patients and apparent "healing" in 16% of cases. A systematic and accurate echocardiographic follow-up showed in these cases a significant improvement of the left ventricular ejection fraction (LVEF) with "reverse remodeling", frequently associated with a decrease of severity of functional mitral regurgitation and regression of the restrictive filling pattern. The response to optimal treatment showed a strong relation to long-term outcome. The 8-year transplant-free survival, starting from the evaluation at 2 years, was 31% in patients with persistent NYHA class III-IV, 64% in NYHA class I-II and LVEF < or = 40%, 83% in NYHA class I-II and LVEF > 40% and 94% in patients with apparent "healing" (p < 0.0001). Long-term follow-up showed a significant clinical progression of the disease in 33% of cases, independently of the initial clinical response to treatment. Predictive factors of a favorable response to beta-blocker treatment associated with ACE-inhibitors were a history of mild hypertension, an early diagnosis and treatment and the presence of sinus tachycardia. The risk of sudden death was increased particularly in patients with long-term persistent or progressive left ventricular dilation and dysfunction. A rigorous pharmacological approach (optimization of beta-blockers, withdrawal or decrease of dosage of digitalis), and selective non-pharmacological strategy (automated implantable cardioverter-defibrillators for primary prevention in high-risk patients) are potentially effective to decrease the incidence of sudden death during long-term follow-up. In conclusion, the Heart Muscle Disease Registry of Trieste gave us in the last 25 years new insights into the natural history of DCM, underlying the importance of a rigorous and systematic approach both at clinical presentation and during long-term follow-up on optimized medical treatment.