Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect

Figure 2

(a) Parasternal long-axis view depicting abnormally small left ventricular end-diastolic cavity, concentric left ventricular hypertrophy (), and normal regional wall motion; (b) M-mode tracing across the interventricular septum demonstrating prominent wall hypertrophy. LA: left atrium; LV: left ventricle; RV: right ventricle; Ao: aorta; IVSd: interventricular septum diastolic diameter; IVSs: interventricular systolic diameter; LVIDd: left ventricular end-diastolic diameter; LVISd: left ventricular end systolic diameter; LVPWd: left ventricular posterior wall thicknesses diastolic diameter; LVPWs: left ventricular posterior wall thicknesses systolic diameter; EF: ejection fraction; FS: fractional shortening.

(a)

(b)