Deutsch
IllnessBicuspid aortic valve, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for bicuspid aortic valve comprising 3 or altogether 7 curated genes according to the clinical signs
ID
BP8989
Number of genes
4
Accredited laboratory test
Examined sequence length
12,3 kb (Core-/Core-canditate-Genes)
13,4 kb (Extended panel: incl. additional genes)
13,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Informations about the disease
Clinical Comment
Abnormal two-leaflet aortic valve in at least 2 first-degree relatives, frequently asymptomatic/associated with progressive aortic valve disease (aortic regurgitation, aortic stenosis, typically due to valve calcification), concomitant aortopathy (aortic dilation, aortic aneurysm and/or dissection)
Synonyms
- Allelic: Adams-Oliver syndrome 5 (NOTCH1)
- Allelic: Atrial septal defect 7, with/-out AV conduction defects (NKX2-5)
- Allelic: Conotruncal heart malformations, variable (NKX2-5)
- Allelic: Craniosynostosis 7, susceptibility to (SMAD6)
- Allelic: Hypoplastic left heart syndrome 2 (NKX2-5)
- Allelic: Hypothyroidism, congenital nongoitrous, 5 (NKX2-5)
- Allelic: Moyamoya disease 5 (ACTA2)
- Allelic: Multisystemic smooth muscle dysfunction syndrome (ACTA2)
- Allelic: Radioulnar synostosis, nonsyndromic (SMAD6)
- Allelic: Tetralogy of Fallot (NKX2-5)
- Allelic: Ventricular septal defect 3 (NKX2-5)
- Aortic aneurysm, familial thoracic 10 (LOX)
- Aortic aneurysm, familial thoracic 6 (ACTA2)
- Aortic valve disease 1 (NOTCH1)
- Aortic valve disease 2 (SMAD6)
- Aortic valve disease 3 (ROBO4)
- Congenital heart defects, multiple types, 5 (GATA5)
- Familial thoracic aortic aneurysm + aortic dissection [panelapp] (MAT2A)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined