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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.
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.
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| Measure | Description | Time Frame |
|---|---|---|
| Specific diagnosis of Inborn Errors of Metabolism listed by their frequency | Clinical outcome | Day 1 |
| Age at diagnosis (years/months) | Clinical outcome | Day 1 |
| Current age (years/months) | Clinical outcome | through study completion, an average of 1 year |
| Weight (kg) | Clinical outcome | through study completion, an average of 1 year |
| Height (cm) | Clinical outcome | through study completion, an average of 1 year |
| BMI (kg/m^2) | Clinical outcome. Weight and height will be combined to report BMI | through study completion, an average of 1 year |
| Cardiac involvement | Type of complications (restrictive cardiomyopathy, hypertrophic cardiomyopathy, dilated cardiomyopathy, arrythmia, heart failure, valvlulopathy, cardiomegaly, thrombosis) | 3 years |
| Left ventricular mass (g/m^2) | Cardiac ultrasound and multiple resonance imaging description of left ventricular mass | 3 years |
| Measure | Description | Time Frame |
|---|---|---|
| Specific treatment for inherited metabolic diseases | Treatment specific to each diseases including ammonia scavenger, enzyme replacement therapy, vitamin cofactors | 3 years |
| Gender (Male/Female) |
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Inclusion Criteria:
Exclusion Criteria:
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Outpatient clinic for Adult patients with inherited metabolic diseases (IMD) from the Lausanne University Hospital (Division of Genetic Medicine)
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Lausanne University Hospital | Lausanne | Canton of Vaud | 1011 | Switzerland |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 32811506 | Result | Gariani K, Nascimento M, Superti-Furga A, Tran C. Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics. Orphanet J Rare Dis. 2020 Aug 18;15(1):210. doi: 10.1186/s13023-020-01471-z. |
| Label | URL |
|---|---|
| Article open-access | View source |
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| ID | Term |
|---|---|
| D008661 | Metabolism, Inborn Errors |
| ID | Term |
|---|---|
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
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| Left ventricular volume (cc/m^2) | Cardiac ultrasound and multiple resonance imaging description of left ventricular volume | 3 years |
| Right ventricular volume (cc/m^2) | Cardiac ultrasound and multiple resonance imaging description of right ventricular volume | 3 years |
| Left ventricular diameter (mm) | Cardiac ultrasound and multiple resonance imaging description of left ventricular diameter | 3 years |
| Left ventricular ejection fraction (%) | Cardiac ultrasound and multiple resonance imaging description of left ventricular ejection fraction | 3 years |
| Right ventricular ejection fraction (%) | Cardiac ultrasound and multiple resonance imaging description of right ventricular ejection fraction | 3 years |
| aortic root diameter (mm) | Cardiac ultrasound and multiple resonance imaging description of aortic root diameter | 3 years |
| Additional cardiac investigations | ECG-QT interval | 3 years |
Demography outcome
| Day 1 |