Cardiac Manifestations in Adult Patients With Inherited Metabolic Disease: a Case Series
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 30
- 试验地点
- 1
- 主要终点
- Height (cm)
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 16 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •All IMD adult patients followed at the adult metabolic clinic at the Lausanne University Hospital from 2017 to 2020 with cardiac investigations
排除标准
- •Age < 16 years. Any document attesting a refusal to participate will exclude the data entry of the concerned patient
结局指标
主要结局
Height (cm)
时间窗: through study completion, an average of 1 year
Clinical outcome
aortic root diameter (mm)
时间窗: 3 years
Cardiac ultrasound and multiple resonance imaging description of aortic root diameter
Current age (years/months)
时间窗: through study completion, an average of 1 year
Clinical outcome
Specific diagnosis of Inborn Errors of Metabolism listed by their frequency
时间窗: Day 1
Clinical outcome
Age at diagnosis (years/months)
时间窗: Day 1
Clinical outcome
BMI (kg/m^2)
时间窗: through study completion, an average of 1 year
Clinical outcome. Weight and height will be combined to report BMI
Left ventricular mass (g/m^2)
时间窗: 3 years
Cardiac ultrasound and multiple resonance imaging description of left ventricular mass
Right ventricular volume (cc/m^2)
时间窗: 3 years
Cardiac ultrasound and multiple resonance imaging description of right ventricular volume
Weight (kg)
时间窗: through study completion, an average of 1 year
Clinical outcome
Left ventricular diameter (mm)
时间窗: 3 years
Cardiac ultrasound and multiple resonance imaging description of left ventricular diameter
Cardiac involvement
时间窗: 3 years
Type of complications (restrictive cardiomyopathy, hypertrophic cardiomyopathy, dilated cardiomyopathy, arrythmia, heart failure, valvlulopathy, cardiomegaly, thrombosis)
Left ventricular volume (cc/m^2)
时间窗: 3 years
Cardiac ultrasound and multiple resonance imaging description of left ventricular volume
Left ventricular ejection fraction (%)
时间窗: 3 years
Cardiac ultrasound and multiple resonance imaging description of left ventricular ejection fraction
Right ventricular ejection fraction (%)
时间窗: 3 years
Cardiac ultrasound and multiple resonance imaging description of right ventricular ejection fraction
Additional cardiac investigations
时间窗: 3 years
ECG-QT interval
次要结局
- Specific treatment for inherited metabolic diseases(3 years)
- Gender (Male/Female)(Day 1)
研究者
Christel Tran
Principal Investigator
University of Lausanne