Cardiac Manifestation and Inherited Metabolic Diseases

University of Lausanne (UNIL)

Status: Completed

Conditions: Metabolism, Inborn Errors

Study type: Observational

Funder types: Other

Identifiers

NCT04999566

2020-02531

Details and patient eligibility

About

The aim of this study is to report and describe cardiac manifestations associated with IMD in a cohort of patients followed in a reference center for rare diseases (Lausanne University Hospital, CHUV) from 2017-2020.

Full description

Inherited metabolic diseases (IMD) are genetic disorders resulting from an enzyme defect and/or transport proteins in metabolic pathways affecting proteins, fat, carbohydrate metabolism or impaired organelle function. As IMDs can affect the primary sources of energy (glycogen, fatty acids), they can lead to cardiac dysfunction. Although most of IMDs are multisystemic diseases, in some cases, the cardiac dysfunction they cause is the main clinical feature and source of major complications which will determine the prognosis, like heart failure, ventricular arrythmias or even sudden death. Information regarding cardiac manifestations in adult IMDs is currently scarce and little is known about their clinical and radiological characteristics.

A database was created in 2017 including all patients with IMD followed at the Adult Metabolic Clinic in the CHUV. This database was part of a protocol submitted and approved by the Ethics committee (# 2017-02328). The results of this first analysis were published in the Journal of Orphan Rare Diseases. Investigators will use this database to identify all the patients who had cardiac examination. Only patients from the Lausanne University Hospital followed jointly with the Division of Cardiology will be included in the analysis. Electronic and paper patient charts from the Division of Genetic Medicine and Division of Cardiology (Lausanne University Hospital) will be reviewed for type of IMD and cardiac investigations (cardiac ultrasound, multiple resonance Imaging, electrocardiogram). All variables will be entered in an excel database.

Enrollment: 30 patients

Sex: All

Ages: 16+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• All IMD adult patients followed at the adult metabolic clinic at the Lausanne University Hospital from 2017 to 2020 with cardiac investigations

Exclusion criteria

• Age < 16 years. Any document attesting a refusal to participate will exclude the data entry of the concerned patient