Key result
A novel de novo CASZ1 heterozygous frameshift variant was identified as the cause of combined dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy in an 11-month-old boy.
Why the study?
CASZ1 loss-of-function variants contribute to familial dilated cardiomyopathy and ventricular septal defect, but only two pathogenic variants in CASZ1 had been previously reported worldwide.
Case Report (n=1)
Identifies a novel CASZ1 frameshift variant causing combined DCM and LVNC, expanding the phenotypic spectrum of CASZ1 mutations.
Novel CASZ1 variant in infantile DCM/LVNC; extends gene spectrum but leaves open prevalence and testing utility.
BACKGROUND: Dilated cardiomyopathy (DCM) is the most common cardiomyopathy with a common presentation of heart failure. It has been reported that CASZ1 loss-of-function mutation contributes to familial DCM and congenital ventricular septal defect (VSD). To date, only two pathogenic variants in CASZ1 have been previously reported worldwide. METHODS: To identify the causative variant in an 11-month-old Chinese boy with DCM and left ventricular noncompaction cardiomyopathy (LVNC), trio-whole-exome sequencing was performed followed by mutational analysis and Sanger sequencing. RESULTS: An unreported de novo heterozygous frameshift variant (c.2443_2459delGTGGGCACCCCCAGCCT, p.Val815Profs*14) in CASZ1 was idenitified in the proband. The frameshift mutation in CASZ1 not only led to DCM but also presented an LVNC phenotype. CONCLUSION: We have identified a novel CASZ1 variant in a patient with combined DCM and LVNC for the first time, thus broadening the phenotypic spectrum of CASZ1 variants. Furthermore, this study emphasized the usefulness of whole-exome sequencing for genetic diagnosis of cardiomyopathy.
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Guo et al. (2019) conducted a case report in Dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy (n=1). CASZ1 heterozygous frameshift variant was evaluated on Identification of causative genetic variant. A novel de novo CASZ1 heterozygous frameshift variant was identified as the cause of combined dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy in an 11-month-old boy.
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