Diastolic heart failure: fact or myth?
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Diastole↗
Biomedical subjects
Hugo Madeira
Publications and source records attributed to Hugo Madeira.
Malignant mutations in hypertrophic cardiomyopathy: fact or fancy?
Hypertrophic cardiomyopathy (HCM) is a relatively common genetic disease, generally with a benign prognosis. However sudden cardiac death may occur, sometimes as the first manifestation of the disease. More than two hundred different mutations have been described in HCM, in 12 different genes encoding sarcomere proteins. This genetic diversity is accompanied by considerable clinical variability and it is likely that phenotype is partially determined by genotype. In recent years it has been suggested that genetic defects could be the major markers of prognosis. Thus, some mutations would carry a good prognosis whereas others, so-called 'malignant' mutations, would be associated with premature sudden death. In a Portuguese population of 35 index patients with HCM the authors found considerable genetic heterogeneity: seven of the 12 mutations identified were de novo, each family having its own 'private' mutation. Moreover, in two unrelated families with the same mutation (I263T--exon 9, missense) in the beta-myosin heavy chain gene (MYH7), penetrance, clinical expression and prognosis were quite different, particularly regarding the occurrence of sudden cardiac death. In two other also unrelated families, in each index patient a different mutation was identified in the troponin I gene (TNNI3): A157V (missense), exon 7 and S199N (missense), exon 8. Phenotypic expression was different but both patients suffered sudden cardiac death (one survived). This suggests that mutations in this gene carry an adverse prognosis. In conclusion, the considerable genetic and clinical variability found in HCM hinders the interpretation of genotype-phenotype correlations, particularly since all the published data is based on small numbers of families.
Adult↗
Tolerability of carvedilol and ACE-Inhibition in mild heart failure. Results of CARMEN (Carvedilol ACE-Inhibitor Remodelling Mild CHF EvaluatioN).
BACKGROUND: Management guidelines for heart failure recommend ACE-I and beta-blockers. The perception of difficult up-titration might have added to the slow uptake of beta-blockers despite their mortality and morbidity benefits. AIMS: CARMEN offered a possibility to study safety and tolerability of enalapril against carvedilol and their combination. METHODS: Five hundred and seventy-two patients were blindly up-titrated on carvedilol (target 25 mg bid) and/or enalapril (target 10 mg bid), and continued for 18 months. In the combination arm, carvedilol was up-titrated before enalapril. RESULTS: There was no group related difference in adverse events during up-titration. Withdrawal rates were 31, 30 and 30%, and serious adverse events 28, 29 and 34% in the combination, carvedilol and enalapril arms. Mortality was similar in all groups (all-cause N=14, 14 and 14; cardiovascular N=9, 13 and 14). All-cause and cardiovascular hospitalizations occurred in 26, 27 and 32%, and in 12, 16 and 22% in the combination, carvedilol and enalapril arms, respectively. CONCLUSION: The safety profile was similar in all treatment arms. In contrast to common perception, there was no difference in tolerability between the ACE-I and carvedilol. This result is even more remarkable as the high prestudy use of ACE-I (65%) might have introduced a bias by selecting ACE-I tolerant patients, who were only switched from their former ACE-I to enalapril.
Adolescent↗
[Heart failure management: guidelines versus clinical practice].
In Europe the management of heart failure is largely conducted by primary care physicians and several reports have revealed differences between guidelines and actual practice. The IMPROVEMENT of Heart Failure project was designed to assess how patients with heart failure are managed by those physicians. Two surveys, the "perception survey" and the "actual practice survey" addressed to 1363 physicians, included questions on diagnosis, functional assessment and treatment. The major discrepancies found were: the lack of awareness about the concept of heart failure with preserved systolic function; the low number of echocardiograms requested; the low rate of prescription of beta-blocking agents and spironolactone; and the inappropriately low of angiotensine-converting enzyme inhibitors prescribed.
Europe↗
Dilated cardiomyopathy due to endocrine dysfunction.
Dilated cardiomyopathy can be idiopathic or be caused by many potentially treatable conditions. We report a complex case of peripartum heart failure associated with hypothyroidism and hypoparathyroidism. Myocardial biopsy suggested that hypothyroidism was the main cause for the dilated pattern, but hypocalcemia played a critical role in acute decompensation of heart failure during hospitalization. After a long and clinically complicated hospital stay, correction of hypothyroidism and hypocalcemia resulted in near-normal cardiac function.
Adult↗
Familial hypertrophic cardiomyopathy: the same mutation, different prognosis. Comparison of two families with a long follow-up.
The gene encoding the beta-myosin heavy chain is one of the most frequently implicated in familial hypertrophic cardiomyopathy. Several mutations have been identified and some genotype-phenotype relationships have been assumed, particularly with regard to prognosis. Nevertheless, phenotypic expression is variable even in affected members of the same family carrying the same mutation. We identified the Ile263Thr mutation in several members of two unrelated Portuguese families. Penetrance, clinical behavior and prognosis were quite different between the two families, particularly concerning the occurrence of sudden death. Additional factors probably exist which account for the differences found. The complexity of hypertrophic cardiomyopathy makes it difficult to accurately determine genotype-phenotype relationships, and the screening and comparison of large affected families carrying the same mutation is warranted.
Adolescent↗
How patients with heart failure are managed in Portugal.
The prevalence of heart failure is increasing all over the world. It is a common and growing public health problem in Portugal as in many other European countries. This article provides a review of health service organization and current heart failure management in Portugal, discusses primary care and ward practices in different hospitals and reports on the use of proven standard therapies for the treatment of heart failure in the community. Despite major advances in diagnosis and treatment, heart failure is only satisfactorily managed. Furthermore efforts are necessary before the beneficial effects observed in trials have a real impact in clinical practice. A broader view and priority for the management of this syndrome on a national level are needed to improve the quality of heart failure care in Portugal.
Cardiotonic Agents↗