Long QT syndrome (LQTS) is predominantly a genetic cardiac arrhythmia disorder. We report here our study on long QT syndrome from two children from Kelantan, Malaysia. Clinical and genetic findings of these two unrelated Malay children with LQTS is discussed. We found a Long QT, type 1 causal mutation, p.Ile567Thr in the KCNQ1 gene in the first child. A pathogenic mutation could not be detected in the second child, explaining the heterogeneity of this disease.

Acute rheumatic fever (ARF) is associated with systemic inflammation and arterial stiffness during the acute stage. It has not been reported if arterial stiffness remains after recovery. The aim of this study was to determine the arterial stiffness during acute stage and 6 months after recovery from ARF. Arterial stiffness was assessed by carotid femoral pulse wave velocity (PWV) in 23 ARF patients during the acute stage of ARF and 6 months later. Simultaneously, erythrocyte sedimentation rate (ESR) and other anthropometric measurements were taken during both stages. There was a significant reduction in PWV; 6.5 (6.0, 7.45) m/s to 5.9 (5.38, 6.48) m/s, p=0.003 6 months after the acute stage of ARF. Similarly, ESR was also significantly reduced from 92.0 (37.5, 110.50) mm/hr to 7.0 (5.0, 16.0) mm/hr, p=0.001. In conclusion, arterial stiffness improved 6 months after the acute stage with routine aspirin treatment; this correlates well with the reduction in systemic inflammation.
Rheumatic Fever ; Vascular Stiffness

Background: Post-occlusive skin reactive hyperaemia (PORH) is a model used to assess microvascular reactivity. This study aims to compare PORH response among pregnant hypercholesterolaemic patients with age and gestational age-matched controls. Methods: This cross sectional study involved 17 hypercholesterolaemic, pregnant women and 20 pregnant controls entering their early third trimester. Laser Doppler fluximetry (LDF) was used to measure skin perfusion. The process of PORH was performed by occluding the upper arm with an occlusion cuff at 200 mmHg for 3 minutes. Skin perfusion was recorded before, during, and after occlusion release. Baseline perfusion, time to achieve peak perfusion (Tp), peak perfusion after occlusion release (PORHpeak), and maximum change in perfusion due to occlusion (PORHmax) were recorded. Results: Serum total cholesterol (TC) was significantly different (P < 0.001) between the 2 groups: 7.25 (SEM 0.18) mmol/L for hypercholesterolaemic women and 5.54 (SEM 0.15) mmol/L for the control group. There were no significant differences in their baseline, PORHpeak, and PORHmax. However, Tp in the hypercholesterolaemic group was significantly increased (P = 0.024) compared with the controls at 14.9 (SEM 0.6) seconds and 13.1 (SEM 0.5) seconds, respectively. Conclusion: Pregnant hypercholesterolaemic patients showed an abnormal microvascular reactivity response. Tp with ischemia was significantly increased compared with normocholesterolaemic controls.

Incontinentia pigmenti (IP) is a rare genodermatological disorder, that is X-linked dominant and almost always invariably lethal in males. The condition is often missed and overlooked. We present the case of an 18-month-old female with IP