Congenital Heart Defect

Gene: CHST14

Red List (low evidence)

Journal by Mari Minatogawa evaluated 50 out of 66 patients with Musculocontractural Ehlers-Danlos syndrome (with biallelic loss-of-function variant in CHST14) and 11 displayed congenital heart defects (prevalence: 22%; p-value 0.14). This gene might have some association with congenital, but based on this journal significance is questionable. Loss-of-function variants in this gene has connective tissue disorder (Ehlers-Danlos syndrome) rather than congenital heart disease association.

Source:
Minatogawa M, Unzaki A, Morisaki H, et al. (2022). Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14). Journal of Medical Genetics, 59, 865-877. doi: 10.1136/jmedgenet-2020-107623

Created: 20 Nov 2023, 1:59 a.m. | Last Modified: 20 Nov 2023, 1:59 a.m.

Panel Version: 0.315

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ehlers-Danlos syndrome; arterial septal defects; coarctation of the aorta; patent ductus arteriosus; dextrocardia; tricuspid atresia

Red List (low evidence)

CTD rather than congenital heart disease association.

Created: 15 Jul 2022, 10:05 a.m. | Last Modified: 15 Jul 2022, 10:05 a.m.

Panel Version: 0.222

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776

Red List (low evidence)

Gene included in Victor Chang CHD gene list however evidence does not exist for causality of significant or isolated CHD and only reported in association with the EDS phenotype. PMID 20503305 reports one patient with EDS and moderate tricuspid valve regurgitation, prolapse of the tricuspid and mitral valves, and left-to-right shunt via a small atrial septal defect, and two patients with valvular regurgitation diagnosed in adulthood in association with the EDS phenotype.
Sources: Expert list, Literature

Created: 15 Jul 2022, 2:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Atrial septal defect; Coarctation of the aorta

Publications

• 20503305