Biomedical subjects

Elisabetta Zachara

Publications and source records attributed to Elisabetta Zachara.

6 recordsLinked to original sources

PubMed2006

A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy.

BACKGROUND: Mutations causing hypertrophic cardiomyopathy (HCM) have been described in nine different genes of the sarcomere. Three genes account for most known mutations: beta-myosin heavy chain (MYH7), cardiac myosin binding protein C (MYBPC3) and cardiac troponin T (TNNT2). Their prevalence in Italian HCM patients is unknown. Thus, we prospectively assessed a molecular screening strategy of these three genes in a consecutive population with HCM from two Italian centres. METHODS: Comprehensive screening of MYBPC3, MYH7 and TNNT2 was performed in 88 unrelated HCM patients by denaturing high-performance liquid chromatography and automatic sequencing. RESULTS: We identified 32 mutations in 50 patients (57%); 16 were novel. The prevalence rates for MYBPC3, MYH7 and TNNT2 were 32%, 17% and 2%, respectively. MYBPC3 mutations were 18, including two frameshift, five splice-site and two nonsense. All were 'private' except insC1065 and R502Q, present in three and two patients, respectively. Moreover, E258K was found in 14% of patients, suggesting a founder effect. MYH7 mutations were 12, all missense; seven were novel. In TNNT2, only two mutations were found. In addition, five patients had a complex genotype [i.e. carried a double MYBPC3 mutation (n = 2), or were double heterozygous for mutations in MYBPC3 and MYH7 (n = 3)]. CONCLUSIONS: The first comprehensive evaluation of MYBPC3, MYH7 and TNNT2 in an Italian HCM population allowed a genetic diagnosis in 57% of the patients. These data support a combined analysis of the three major sarcomeric genes as a rational and cost-effective initial approach to the molecular screening of HCM.

Cardiomyopathy, Hypertrophic↗

PubMed2005

The Italian Registry for hypertrophic cardiomyopathy: a nationwide survey.

BACKGROUND: National registries are advocated as instrumental to the solution of rarity-related problems for patients with hypertrophic cardiomyopathy (HCM), including limited access to advanced treatment options. Thus, an Italian Registry for HCM was created to assess the clinical profile and the level of care nationwide of patients with HCM. METHODS: Cardiology centers over the national territory were recruited to provide clinical data of all patients with HCM ever seen at each institution. The enrollment period was from May 2000 to May 2002. RESULTS: The registry enrolled 1677 patients from 40 institutions. Most (69%) were followed at referral centers, whereas 31% were from community centers with intermediate-low patient flow. Patients diagnosed after routine medical examinations or familial screenings were 39%. Most patients were male (62%), in their fourth to sixth decade of life, and in New York Heart Association class I to II (89%); 24% had resting left ventricular obstruction and 18% had atrial fibrillation. During a 9.7-year average follow-up, cardiovascular mortality was 1%/y, mostly because of heart failure, with no significant change over the last 3 decades; sudden death was less common (0.4%/y). Only 4% of patients received a defibrillator; 14% of the 401 patients with LV outflow obstruction underwent invasive relief of obstruction; and <1% were offered genetic analyses or counseling. CONCLUSIONS: The Italian Registry represents the first comprehensive attempt to evaluate the clinical impact and management of HCM at a national level. Findings underscore the role of screening strategies for an early diagnosis and suggest limited use of the advanced therapeutic options for HCM.

Adult↗

PubMed2005

[Isolated left ventricular non-compaction].

Isolated left ventricular noncompaction is a genetically heterogeneous congenital disorder characterized by an altered structure of the myocardial wall. This cardiomyopathy is thought to be due to an arrest of intrauterine compaction of the myocardial fibers in the absence of any other structural heart disease. Noncompaction of the left ventricular myocardium is an uncommon finding and remains frequently overlooked even by experienced echocardiographers. However, a correct diagnosis of noncompaction has important implications due to the possible association with other cardiac abnormalities and/or muscle disorders, progressive left ventricular dysfunction, risk of thromboembolism, and life-threatening arrhythmias. Furthermore, because of the familial association described with ventricular noncompaction, screening with echocardiography of first relatives is recommended. Since echocardiography is the diagnostic technique of choice, missed diagnoses may be due to nonoptimal imaging of the lateral and apical myocardium, and/or insufficient disease awareness by echocardiographers. To increase awareness of left ventricular noncompaction, the present paper reviews embryology, genetics, clinical features and pathophysiology, diagnosis, treatment and prognosis of patients affected by isolated left ventricular noncompaction.

Adolescent↗

PubMed2004

HIV-related pulmonary hypertension. From pathogenesis to clinical aspects.

HIV-related pulmonary hypertension (HIV-PH) is a cardiovascular complication of HIV infection that has been recognized in the last years with increasing frequency. HIV-related pulmonary hypertension is a clinical disorder which carries a bad prognosis. While a direct HIV infection of the pulmonary vessels in the pathogenesis of this disorder was not demonstrated, currently a multifactorial pathogenesis of this disease could be hypothesized. Echocardiography has been found to be the most useful screening imaging modality for the diagnosis of HIV-PH, with a high predictive negative value and a low positive predictive value. For this reason Doppler echocardiography is not the gold standard in the diagnosis of HIV-PH. The treatment of HIV-PH is complex and controversial. To date, no study determining the agent of choice for the treatment of this disease exists. Different studies have shown variable results in patiens with HIV-PH treated with highly active antiretroviral therapy (HAART) but only HAART seems not to be effective in lowering pulmonary hypertension in these patients, and in some patients, HIV-PH develops in spite of a previous HAART. It seems reasonable in HIV-PH patients that a treatment with oral vasodilator drugs can improve the adherence of a long-lasting and complex antiretroviral therapy.

Cytokines↗

PubMed2003

Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations.

AIMS: Retrospective studies have identified a mutation in the lamin A/C (LMNA) gene in patients selected on the basis of a phenotype characterized by dilated cardiomyopathy, atrioventricular conduction disturbances and sudden death. However, the features of cardiac abnormalities in patients with an initial diagnosis of Emery-Dreifuss muscular dystrophy (EDMD) are poorly known. Aim of the present study was to investigate the spectrum of cardiac disease in patients with an initial diagnosis of EDMD caused by a mutation in the LMNA gene. METHODS AND RESULTS: Ten consecutive patients with EDMD and a LMNA gene mutation were evaluated with structured medical interview, physical examination, ECG, echocardiogram and 24-h Holter monitoring. Electrophysiological testing and cardiac catheterization were performed if a class 1 or 2 American Heart Association guidelines indication was present. Cardiac disease was found in eight of 10 patients and consisted in the variable combination of supraventricular arrhythmias, disorders of atrioventricular conduction, ventricular arrhythmias, dilated cardiomyopathy, non-dilated cardiomyopathy, restrictive cardiomyopathy and sudden death despite pacemaker implant. CONCLUSIONS: Cardiac disease is common in patients with an initial diagnosis of EDMD caused by a mutation in the LMNA gene and consists of arrhythmias, disorders of atrioventricular conduction, cardiomyopathies and sudden death despite pacemaker implant.

Adolescent↗

PubMed2003

[Unusual evolution of myopericarditis: a case report].

Presenting features of constrictive pericarditis, a rare evolution of acute pericardial inflammation, may resemble those of restrictive cardiomyopathy or liver diseases. We describe the case of a 32-year-old man, with a history of myocardial and pericardial inflammation disease, who showed recurrent symptoms and signs of heart failure. For this reason, he underwent complete diagnostic evaluation, including computed tomography, echocardiography with tissue Doppler imaging, and endomyocardial biopsy. Constrictive pericarditis could be correctly diagnosed and the patient underwent pericardiectomy with complete resolution of heart failure. The present case report provides evidence that tissue Doppler echocardiography yields diagnostic information helpful to differentiate between constrictive pericarditis and restrictive cardiomyopathy. Moreover, non-invasive imaging is of value to choose the optimal therapeutic strategy in constrictive cardiomyopathy.

Adult↗