Subject(s)
Collagen Type VI/genetics , Myositis/diagnosis , Child , Female , Humans , Magnetic Resonance Imaging , Mutation , Myositis/geneticsABSTRACT
Hypertrophic cardiomyopathy (HCM) is the most frequent genetic cardiovascular disorder worldwide. It is the leading cause of sudden cardiac-related death in young people and a major cause of cardiac failure and death in elderly people. However, HCM frequently goes undiagnosed until the appearance of overt signs and symptoms, thereby delaying prophylactic and therapeutic measures. We screened patients for sarcomeric genes associated with HCM to obtain information that could be useful for an early diagnosis and so limit the severe consequences of silent HCM. We recruited 39 families with HCM from southern Italy and found mutations in 41% of families (12 with familial HCM and 4 with sporadic HCM). The remaining 23 families (59%) were negative for myofilament gene mutations. Of the 12 mutations identified, 8 were novel. Screening of the other family members available revealed that 27 had mutations; 11 of these individuals had no signs or symptoms suggestive of HCM. This study, besides characterizing the spectrum of mutations in another childhood population, and revealing an even greater genetic heterogeneity than formerly recognized, may increase genotype-phenotype correlations, and thus may help to identify asymptomatic candidates for early preventive or therapeutic measures.
Subject(s)
Cardiomyopathy, Hypertrophic/genetics , White People/genetics , Adolescent , Age of Onset , Cardiomyopathy, Hypertrophic/diagnostic imaging , Cardiomyopathy, Hypertrophic/epidemiology , Child , Child, Preschool , Cohort Studies , Female , Follow-Up Studies , Genotype , Humans , Infant , Infant, Newborn , Italy/epidemiology , Male , Mutation/genetics , Phenotype , Polymorphism, Single Nucleotide/genetics , Prevalence , RNA Splice Sites/genetics , Reverse Transcriptase Polymerase Chain Reaction , Sarcomeres/genetics , UltrasonographyABSTRACT
Over the last decades, there has been a significant increase in incidence and prevalence of heart failure, a major cause of cardiac morbidity and mortality. Measurements of neurohormones, in particular B-type natriuretic peptide (BNP), can significantly improve diagnostic accuracy, and also correlate with long-term morbidity and mortality in patients with chronic heart failure presenting to the emergency department. BNP is secreted by cardiac ventricles mainly in response to wall stress and neurohormonal factors like the sympathetic nervous system, endothelins, and the rennin-angiotensin-aldosterone system. BNP increases myocardial relaxation and oppose the vasoconstrictive, sodium retaining, and natriuretic effects caused by vasoconstrictive factors. BNP is the first biomarker to prove its clinical value for the diagnosis of left ventricular systolic and diastolic dysfunction but also for the right ventricular dysfunction, guiding prognosis and therapy management. Emerging clinical data will help further refine biomarker-guided therapeutic and monitoring strategies involving BNP.
Subject(s)
Atrial Natriuretic Factor/physiology , Heart Failure/diagnosis , Natriuretic Peptide, Brain/physiology , Natriuretic Peptide, C-Type/physiology , Ventricular Dysfunction, Left/diagnosis , Biomarkers/metabolism , Heart Failure/drug therapy , Heart Failure/metabolism , Humans , Natriuretic Peptide, Brain/therapeutic use , Prognosis , Ventricular Dysfunction, Left/metabolismABSTRACT
Several studies already demonstrated the clinical relevance of strain rate imaging. Unfortunately, so far only few echolaboratories are using this technique in their clinical practice. This is mainly due to the lack of information on how to perform a standard strain rate imaging study. Thus, the aim of the present review is to provide the bases and methodology to perform a correct strain rate study.
