Key result
Screening for 20 sarcomeric gene mutations identifies ~1% carriers in Malaysian cardiomyopathy patients.
Why the study?
Most cardiomyopathy genetic studies have been performed in Western populations, leaving limited data available for Asian populations.
Are 20 specific sarcomeric gene mutations previously reported in Caucasian populations present in Malaysian patients with cardiomyopathy?
Observational (n=152)
Are 20 specific sarcomeric gene mutations previously reported in Caucasian populations present in Malaysian patients with cardiomyopathy?
The genetic architecture of cardiomyopathy in Malaysian patients differs significantly from Caucasian populations, highlighting the need for population-specific genetic studies.
Low yield of Caucasian-derived mutations in Malaysian cardiomyopathy; leaves open ancestry-specific panels before clinical use.
Cardiomyopathy comprises a diverse group of diseases affecting the myocardium.The genetic composition is one of the major disease-defining factors of cardiomyopathies, with globally more than 100 genes implicated in this pathogenesis.Most genetic studies were performed in the Western populations, with only limited data available for the Asian populations.In this study, 152 cardiomyopathy patients (104 dilated cardiomyopathy and 48 hypertrophic cardiomyopathy) were recruited.A total of 20 genetic mutations previously reported in Caucasian populations in MYBPC3, MYH7, TNNT2 and TPM1 genes were examined via Tetra Primer Amplification-Refractory Mutation System Polymerase Chain Reaction approach.Of all subjects, only one patient with hypertrophic cardiomyopathy was found as heterozygous carrier of a point mutation (c.1208G>A) in the MYH7 gene.The remaining 19 mutations were not observed among the cardiomyopathy patients in this study.Our finding suggests a different genetic architecture of the Malaysian cardiomyopathy patients compared to the Caucasian populations.Therefore, a more comprehensive mutation study on the Malaysian cardiomyopathy patients is essential for better illustration of the genetic causes of cardiomyopathy in Malaysia.
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Tan et al. (2023) conducted an observational in Cardiomyopathy (n=152). 20 genetic mutations in MYBPC3, MYH7, TNNT2 and TPM1 genes was evaluated on Presence of 20 specific genetic mutations. Screening for 20 sarcomeric gene mutations in 152 Malaysian patients with cardiomyopathy identified only 1 heterozygous carrier (0.66%) of a point mutation in the MYH7 gene.
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