Left Ventricular Apical Hypoplasia (LVAH), New Rare Condition Clinical Trial
Official title:
GENETIC BASIS of LEFT VENTRICULAR APICAL HYPOPLASIA
| NCT number | NCT04339582 |
| Other study ID # | LVAH_001 |
| Secondary ID | |
| Status | Recruiting |
| Phase | |
| First received | |
| Last updated | |
| Start date | September 20, 2013 |
| Est. completion date | March 2023 |
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.
| Status | Recruiting |
| Enrollment | 7 |
| Est. completion date | March 2023 |
| Est. primary completion date | March 2022 |
| Accepts healthy volunteers | No |
| Gender | All |
| Age group | N/A to 90 Years |
| Eligibility |
Inclusion Criteria: - 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. Exclusion Criteria: - Involvement with any other ongoing studies. - Patients who have diagnosis of other Cardiomyopathies |
| Country | Name | City | State |
|---|---|---|---|
| Italy | Ospedale V. Monaldi, Università degli studi della Campania, Luigi Vanvitelli | Naples |
| Lead Sponsor | Collaborator |
|---|---|
| Monaldi Hospital | Bambino Gesù Hospital and Research Institute |
Italy,
| Type | Measure | Description | Time frame | Safety issue |
|---|---|---|---|---|
| Primary | 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 |