Phenotype #0000315739

Individual ID	00424543
Associated disease	EDSVASC
Phenotype details	Patient positive for Aortic dissectioni. LDS/FTAAD were suspected before molecular testing. Father, died at 62 years, aortic dissection; sister (46 years), variant positive; cousin (51 years), aortic dissection, variant positive; cousin's daughter (21 years) and son (19 years), variant positive. Patient and his cousin developed dissection of ascending aorta at age 50 and 51 years, respectively. Both underwent valve-replacement surgery safely with no fragility-related complications. Patient 9 had skin striae but no other skeletal or skin features associated with MFS or vEDS, and his cousin (III-3) had atrophic scars and skin translucency. They were suspected to have LDS or FTAAD. The current NGS-based investigation revealed a heterozygous nonsense variant in COL3A1. Skin fibroblasts cultured from Patient 9 showed a decreased level of type III collagen production (22.7% of normal, Figure 3a). They were both diagnosed with vEDS, followed by initiation of celiprolol therapy. His cousin's asymptomatic daughter and son were also diagnosed molecularly and have begun regular vascular surveillance.
Diagnosis/Initial	50y
Inheritance	Familial
Diagnosis/Definite	-
Age/Examination	50y (50 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Oumaima Nehaili
Database submission license
Created by	Oumaima Nehaili
Date created	2022-11-20 18:41:56 +01:00 (CET)
Date last edited	2024-10-17 10:33:21 +02:00 (CEST)

Global Variome shared LOVD