Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement.
Roland StenglAndrás BorsBence AggMiklós PólosGabor MatyasMária Judit MolnárBálint FeketeDóra CsabánHajnalka AndrikovicsBéla MerkelyTamás RadovitsZoltán SzabolcsKálmán BenkePublished in: Orphanet journal of rare diseases (2020)
Due to the relevant number of mutations affecting genes other than FBN1, preferred approach for testing individuals with Marfanoid habitus is using a gene panel rather than single-gene analysis, followed by MLPA for negative samples. DN Cys and HI mutations should be considered as risk factors for aortic involvement. Genetic testing for patients with Marfanoid features and a systemic score under 7 is recommended, as LDS patients may have lower scores, but they may have severe cardiovascular manifestations.
Keyphrases
- genome wide
- genome wide identification
- end stage renal disease
- aortic valve
- ejection fraction
- copy number
- left ventricular
- early onset
- newly diagnosed
- pulmonary artery
- aortic dissection
- chronic kidney disease
- peritoneal dialysis
- genome wide analysis
- prognostic factors
- gene expression
- heart failure
- drug induced
- case report
- transcription factor
- pulmonary arterial hypertension