Gene/phenotype/disorder under study
Myhre Syndrome
Abstract
Recurrent pathogenic heterozygous variants in SMAD4 are responsible for Myhre Syndrome (MS). Individuals with MS display multisystemic connective tissue disorder including pulmonary and cardiovascular diseases, and progressive and proliferative fibrosis. Protein losing enteropathy (PLE) has been reported in few cases and its pathogenesis is unclear. PLE has been associated with congenital heart defects (CHD). We aim at understanding the prevalence of PLE in MS with or without CHD and the natural history of this manifestation.
Individuals with MS may present various congenital heart defects often requiring surgical repair. Fontan procedure is a surgical procedure which generates a cavo-pulmonary anastomosis and univentricular circulation. This allows the sufficient systemic venous pressure to enable passive lung perfusion. However, the procedure is thought to increase lymphatic production and thoracic duct pressure ultimately resulting in PLE. To gain insight into the pathogenesis of PLE in MS, we aim at collecting full phenotypes of MS cases with PLE.
Coordinating clinician
Alessandro De Falco, Nicola Brunetti-Pierri – a.defalco@tigem.it
Institution
Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No