Publications by authors named "Chang-Hui Lei"
Heart Vessels
October 2021
Article Synopsis
- The MYBPC3-E334K mutation is associated with hypertrophic cardiomyopathy (HCM) but has conflicting pathogenicity data due to its frequency in the general population and limited family studies.
- In a study of 1,017 unrelated HCM patients, 0.88% were found to have this mutation, with males showing a higher disease penetrance (100%) compared to females (25%).
- The mutation is classified as likely pathogenic, showing a pattern of autosomal dominant inheritance, and the age of diagnosis for males is significantly younger than for females.
Article Synopsis
- Danon disease is an X-linked glycogen storage disorder causing skeletal myopathy, cardiomyopathy, and intellectual impairment, linked to mutations in the LAMP2 gene.
- A study analyzed 96 genes in 770 patients with hypertrophic cardiomyopathy (HCM) through second-generation sequencing, confirming LAMP2 mutations in 7 patients presenting with HCM.
- The findings highlighted early-onset characteristics of Danon disease, such as specific ECG changes and differences in cardiac function compared to other conditions, potentially aiding in early diagnosis and treatment strategies.
Cardiol Young
September 2018
Article Synopsis
- - The study examines a Chinese family with genetic mutations linked to dual Long QT syndrome and hypertrophic cardiomyopathy, revealing diverse clinical outcomes and an unexplored link to myocardial dysfunction.
- - Genetic testing identified four missense mutations (MYH7-H1717Q, KCNQ1-R190W, MYLK2-K324E, TMEM70-I147T), with three showing potential harmful effects on heart characteristics among family members.
- - Echocardiographic analysis revealed that carriers of the MYH7 and KCNQ1 mutations had significant heart structural and electrical changes, while the TMEM70 mutation did not exhibit notable differences compared to non-mutation carriers.
