RAF1 mutation expands the cardiac phenotypic spectrum of Noonan syndrome: A case report

Table 1 Laboratory examinations

Test date	Test item	Result	Reference range	Note
July 11, 2024	NT-proBNP (pg/mL)	2487	< 125	Pre-surgery
July 11, 2024	High-sensitivity troponin I (ng/mL)	0.001	< 0.0262	Pre-surgery
July 13, 2024	Growth hormone (ng/mL)	6.58	0.09-1.95	Pre-surgery
July 13, 2024	Insulin-like growth factor 1 (ng/mL)	147	50-286	Pre-surgery
July 24, 2024	NT-proBNP (pg/mL)	6396	< 125	Post-surgery
July 24, 2024	High-sensitivity troponin I (ng/mL)	15.79	< 0.0262	Post-surgery
July 24, 2024	Interleukin-6 (pg/mL)	37.73	< 7	Post-surgery
July 24, 2024	PCT (ng/mL)	0.961	< 0.065	Post-surgery

NT-proBNP: N-terminal pro-B-type natriuretic peptide; PCT: Procalcitonin.

Table 2 Follow-up data on the child’s left ventricular outflow tract, tricuspid valve flow velocity, and pressure

Date	Left ventricular outflow tract (resting state)	Vmax (m/second)	PGmax (mmHg)	Tricuspid regurgitation Vmax (m/second)	Tricuspid regurgitation PGmax (mmHg)	Pulmonary artery systolic pressure (mmHg)
July 11, 2024	Significantly increased	4.7	89	3.2	40	-
July 30, 2024	Increased	3.8	57	2.6	27	32
August 31, 2024	Increased	3.4	47	2.0	17	22
September 11, 2024	Increased	3.4	45	2.0	17	22
February 12, 2025	Normal	1.8	13	2.2	20	25

PGmax: Peak gradient maximum; Vmax: Velocity maximum.

Table 3 Analysis of the child’s interventricular septal thickness

Date	Zone I (mm)	Zone II (mm)	Zone III (mm)	Zone IV (mm)
July 11, 2024	-	-	-	-
July 30, 2024	10.7	11.9	10.6	12.6
August 31, 2024	10.7	11.9	10.6	12.6
September 11, 2024	10.7	11.9	10.6	12.6
February 12, 2025	9.1	11.5	11.7	12.3