GENETIC BASIS of LEFT VENTRICULAR APICAL HYPOPLASIA
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|ClinicalTrials.gov Identifier: NCT04339582|
Recruitment Status : Recruiting
First Posted : April 9, 2020
Last Update Posted : April 10, 2020
Brief summary Left ventricular apical hypoplasia (LVAH) is a rare cardiomyopathy characterized by a spherical, truncated LV with some degree of systolic dysfunction, an elongated, normally functioning right ventricle that wraps around the distal left ventricle, deficiency of the myocardium within the LV apex with adipose tissue infiltrating the apex and origin of the papillary muscle in the flattened anterior apex. This condition presents with different clinical presentation, ranging from no symptoms to congestive heart failure or malignant tachycardia. The etiology of this condition is currently unknown. The aim of this study is to evaluate the clinical and genetic characteristics of patients with LVAH.
Background Left ventricular apical hypoplasia (LVAH) is described as congenital heart disease with an unusual type of cardiomyopathy that was first described in 2004 by Fernandez-Valls et al. It is an extremely rare disease; to date, only more than twenty cases were described.
The typical imaging features of this cardiomyopathy include: a spherical, truncated LV with some degree of systolic dysfunction; an elongated, normally functioning right ventricle that wraps around the distal left ventricle; deficiency of the myocardium within the LV apex with adipose tissue infiltrating the apex; origin of the papillary muscle in the flattened anterior apex. A 2D echocardiogram and cardiac MRI can successfully indicate different morphological features This rare phenomenon frequently presents with different clinical manifestations according to the age of the disease, from no symptoms in children to congestive heart failure, pulmonary edema, or even malignant tachycardia in adults. Congenital or genetical etiology was proposed to explain the development of this rare cardiomyopathy.
The aim of this study is to evaluate the clinical and genetic characteristics of patients with LVAH.
Methods Study population
The study population is composed by consecutive patients with diagnosis of LVAH. Diagnosis of LVAH is based on echocardiographic or cardiac magnetic resonance (CMR) evidence of all the following diagnostic criteria:
- a spherical, truncated LV with some degree of systolic dysfunction;
- an elongated, normally functioning right ventricle that wraps around the distal left ventricle;
- deficiency of the myocardium within the LV apex with adipose tissue infiltrating the apex;
- origin of the papillary muscle in the flattened anterior apex. Patients enrolled followed a common protocol designed by GL (Monaldi Hospital, AORN Colli, University of Campania "Luigi Vanvitelli"). The study protocol was approved, and written informed consent was obtained from each subject, according to the procedure established by the Ethic Committee of our institution.
Study protocol Patients enrolled underwent a comprehensive clinical-genetic evaluation commonly practiced in our cardiology division. In particular, the basal evaluation, consisted family and personal history, physical examination, blood tests, 12-lead electrocardiogram (ECG) at rest, conventional M-mode, two-dimensional and Doppler echocardiography, 24-hour Holter ECG, and cardiac magnetic resonance (CMR), and genetic testing with whole exome sequencing (WES). Moreover, all patients are clinically revaluated every 6-12 months.
|Condition or disease|
|Left Ventricular Apical Hypoplasia (LVAH), New Rare Condition|
|Study Type :||Observational [Patient Registry]|
|Estimated Enrollment :||7 participants|
|Target Follow-Up Duration:||1 Year|
|Official Title:||GENETIC BASIS of LEFT VENTRICULAR APICAL HYPOPLASIA|
|Study Start Date :||September 20, 2013|
|Estimated Primary Completion Date :||March 2022|
|Estimated Study Completion Date :||March 2023|
- new gene of LVAH [ Time Frame: one year later the completation study ]the principal aim of the study is to identify the new gene of LVAH and to investigate on genetic background of this clinical condition
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04339582
|Contact: GIUSEPPE LIMONGELLI, PHD,MDemail@example.com|
|Contact: MARTINA CAIAZZA, BMCfirstname.lastname@example.org|
|Ospedale V. Monaldi, Università degli studi della Campania, Luigi Vanvitelli||Recruiting|
|Naples, Italy, 80121|
|Contact: Giuseppe Limongelli, phd,md 3776902779 email@example.com|