GENETIC BASIS of LEFT VENTRICULAR APICAL HYPOPLASIA

NCT04339582 | Unknown DMC

• 1 other identifier: LVAH_001
• Study Type: observational
• Target: 7
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Left Ventricular Apical Hypoplasia (LVAH), New Rare Condition

Keywords

Left ventricular apical hypoplasia (LVAH); Genetic testing; Congenital or genetical condition

Outcome Measures

Primary Outcomes (1)

• new gene of LVAH

  the principal aim of the study is to identify the new gene of LVAH and to investigate on genetic background of this clinical condition

  one year later the completation study

Eligibility Criteria

• Age: Up to 90 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

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.

You may qualify if:

• Male and female patients, 0-90 years old, in any distribution.
• Patients who have the diagnostic criteria for 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.

You may not qualify if:

• Involvement with any other ongoing studies.
• Patients who have diagnosis of other Cardiomyopathies

Sponsors & Collaborators

• Monaldi Hospital: lead
• Bambino Gesù Hospital and Research Institute: collaborator

Study Sites (1)

Ospedale V. Monaldi, Università degli studi della Campania, Luigi Vanvitelli

Naples, 80121, Italy

RECRUITING

Central Study Contacts

GIUSEPPE LIMONGELLI, PHD,MD

CONTACT

3776902779; limongelligiuseppe@libero.it

MARTINA CAIAZZA, BMC

CONTACT

3391574484; martina.caiazza@yahoo.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 1 Year
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: April 6, 2020
• First Posted: April 9, 2020
• Study Start: September 20, 2013
• Primary Completion: March 1, 2022
• Study Completion: March 1, 2023
• Last Updated: April 10, 2020

Record last verified: 2020-04

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1)