Table 2.

Phenotypes and genotypes of OI patients with echocardiographic abnormalities.

No	Sex	Age (y)	BSA (m2)	Cardiovascular manifestations			Genotypes			Skeleton phenotypes						Extra-skeleton phenotypes
				Cardiac- related symptoms	ECG	Echocardiography abnormalities	Mutation gene	Variation	Type I collagen change mechanism	Sillence type	Number of fractures	Mobility	Bone deformities	Vertebral compression fractures	Scoliosis	Blue sclera	Joint hypermobility	Dentinogenesis imperfecta
1	M	2.5	0.58	Asymptomatic	Nodal tachycardia, HR 128 bpm	Increased proportion of left atrium	COL1A1	c.2560G>A, p.Gly854Ser	Triple-helical structure change	I	2	Automatic activity	No	No	No	Yes	No	Yes
2	M	5.5	0.75	Asymptomatic	Normal, HR 92 bpm	Increased left atrium	COL1A1	c.2739delT, p.Gly914Argfs*	Haplo-insufficiency	I	2	Automatic activity	No	No	No	Yes	Yes	No
3	M	9	1.34	Asymptomatic	Normal, HR 97 bpm	Increased left atrium	COL1A1	c.3076C>T, p.Arg1026*	Haplo-insufficiency	IV	4	Wheelchair	Yes	Yes	Yes	Yes	Yes	No
4	F	10.5	1.63	Asymptomatic	Sinus arrhythmia, HR 75 bpm	Increased internal diameter of left ventricular	COL1A1	c.1001delC, p.Pro334Leufs*	Haplo-insufficiency	I	3	Wheelchair#	No	Yes	No	Yes	Yes	No
5	M	11	1.57	Asymptomatic	Sinus arrhythmia, HR 82 bpm	Increased left atrium	COL1A1	c.751-2A>C	Other	I	2	Automatic activity	No	Yes	No	Yes	No	No
6	M	16	1.38	Asymptomatic	Sinus arrhythmia, HR 88 bpm	Increased left atrium	COL1A1	c.1003G>A, p.Gly335Ser	Triple-helical structure change	IV	3	Wheelchair	Yes	Yes	Yes	Yes	Yes	No

OI, osteogenesis imperfecta; No: number; ECG, electrocardiogram; HR, heart rate; BSA, body surface area; Gly, glycine; Ser, serine; del, deletion; Arg, arginine; fs, frameshift; Pro, proline; Leu, leucine.

^#: This patient suffered a newly-onset left fibula fracture.