Table 3.

Patients with no clinically relevant variant in genes known to cause Marfan syndrome and related disorders.

Patient #	Age at evaluation (years)	Gender	Revised Ghent criteria	Cardiac/vascular manifestations	Ocular features	Systemic score	Clinical diagnosis (pre-test)
46	15	Male	Negative	Tricuspid and mitral valve prolapse with regurgitation	Myopia	Negative	MASS phenotype
47a	15	Female	Negative	Tricuspid and mitral valve prolapse with regurgitations	Absent	Negative	Mitral valve prolapse syndrome
48	22	Male	Negative	Thoracic and abdominal aortic aneurysm	Absent	Negative	Aortopathy
49	16	Female	Negative	Mitral valve prolapse regurgitation	Absent	Negative	MASS phenotype
50	13	Female	Negative	Myxomatous mitral valve with regurgitation	Absent	Negative	Mitral valve prolapse syndrome
51	18	Male	Negative	Myxomatous mitral valve with regurgitation	Absent	Positive	MASS phenotype
52b,c	2	Male	Negative	Mild aortic root dilatation with ventricular septal defect	Absent	Negative	Aortopathy with facial dysmorphism
52’s brotherc	2	Male	Negative	Absent	Absent	Negative	MASS phenotype
53d	15	Female	Negative	Arteritis	Absent	Positive	Marfanoid disorder

Revised Ghent criteria ‘negative’ indicates non-fulfillment. Systemic score ‘positive’ indicates systemic involvement (score ≥ 7) and ‘negative’ suggests no systemic involvement (score < 7).

MASS phenotype Mitral valve, Aorta, Skin, and Skeletal features.

^aPatient 47 had poor scholastic performance.

^bPatient 52 had developmental delay.

^cThe difference in the phenotypes of patient 52 and his brother could suggest variable expression.

^dPatient 53 had microtia and perauricular tag.