Asprosin as a molecular marker for Marfan syndrome

Recruitment & Eligibility

Status: Recruiting

Sex: All

Target Recruitment: 120

Inclusion Criteria

Case-1:
Inclusion criteria
- Presence of Marfan syndrome corresponding to the revised 2010 Gent nosology.
- Age between 3 and 18 years
- Willingness to participate in the study and to sign the informed consent form
- Presence of a signed informed consent form from a parent or guardian.

Control-1
Inclusion criteria
- Age between 3 and 18 years
- Willingness to participate in the study and sign the informed consent form
- Presence of a signed informed consent form from a legal guardian
- with regard to matching to case-1, there should be as high a match as possible in the influencing variables age, gender and BMI

Case-2
Inclusion criteria
- presence of Marfan syndrome according to the revised Gent nosology of 2010
- Age over 18 years
- Willingness to participate in the study and to sign the informed consent form.

Control-2
Inclusion criteria
- Age over 18 years
- willingness to participate in the study and to sign the informed consent form
- with regard to matching to case-2, there should be as high a match as possible in the influencing variables age, gender and BMI

Exclusion Criteria

Case-1

- Absence of Marfan syndrome corresponding to the revised 2010 Gent nosology.
- Age under 3 years or over 18 years
- Persons with cognitive impairment and/or insufficient knowledge of the German language
- Failure to provide a signed consent form from a parent or guardian

Control-1

- Presence of Marfan syndrome corresponding to the 2010 revised Gent nosology.
- Presence of any other structural heart disease
- Presence of a potential Marfan syndrome corresponding to the 2010 gene nosology (human genetic evidence with insufficient clinical symptoms for a Marfan syndrome)
- Age under 3 years or over 18 years
- Persons with cognitive impairment and/or insufficient knowledge of the German language
- non-existence of a signed declaration of consent from a parent or guardian
- strong deviation of matching factors (BMI, age, gender) to case-1

case-2

- Absence of Marfan syndrome corresponding to the revised 2010 Gent nosology.
- Age under 18 years
- Individuals with cognitive impairment and/or insufficient knowledge of the German language and inadequate reading ability

Control-2

- Presence of Marfan syndrome corresponding to the revised 2010 Gent nosology.
- Presence of any other structural heart disease
- Presence of a potential Marfan syndrome corresponding to the 2010 gene nosology (human genetic evidence with insufficient clinical symptoms for a Marfan syndrome)
- Age under 18 years
- persons with cognitive impairment and/or insufficient knowledge of the German language
- strong deviation of matching influencing variables (BMI, age, sex) to case-2