Key result
Whole exome sequencing identifies a novel MYBPC3 variant linked to AVCD and HCM.
Why the study?
Atrioventricular canal defect is often associated with genetic changes and has a broad spectrum of anatomical patterns, prompting the presentation of a novel likely pathogenic MYBPC3 variant.
Case Report
No
This case report expands the phenotypic spectrum of MYBPC3 mutations to include atrioventricular canal defect, demonstrating variable phenotypic expression within a single family.
May warrant MYBPC3 testing in AVCD with familial HCM; extends phenotypic spectrum highlighting variable intrafamilial expression.
Background Atrioventricular canal defect (AVCD) is a congenital heart disease often associated with genetic changes, with a broad spectrum of anatomical patterns. Aim We present a novel likely pathogenic variant of MYBPC3 in a proband with AVCD. Methods A clinical and genetic evaluation was conducted on a one‐year‐old Iranian girl referred to our center with cardiac structural abnormalities and her family. Transthoracic echocardiography (TTE) and cardiac computed tomography (CT) were employed for clinical evaluation, and whole exome sequencing (WES), polymerase chain reaction (PCR), and Sanger sequencing were utilized for genetic analysis. Results TTE revealed a ventricular and atrial septal defect (ASD), along with pulmonary hypertension (PH). The proband was diagnosed with AVCD through cardiac CT. WES identified a novel heterozygous MYBPC3 (NM_000256.3): c.3747_3748insGG; p.(Ile1250Glyfs∗82). Segregation analysis confirmed the presence of the same variant in the proband’s father, who was diagnosed with hypertrophic cardiomyopathy (HCM). Conclusion We presented the first case of AVCD associated with a novel MYBPC3 variant, expanding the spectrum of cardiac anomalies linked to MYBPC3 mutations. The findings highlight the complexity and variable expression of MYBPC3 within affected family members.
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Mozafarybazargany et al. (2026) conducted a case report in Atrioventricular canal defect (AVCD). Clinical and genetic evaluation (TTE, cardiac CT, WES, PCR, Sanger sequencing) was evaluated on Identification of genetic variant associated with AVCD. Whole exome sequencing identified a novel heterozygous MYBPC3 variant (c.3747_3748insGG) in a one-year-old girl with atrioventricular canal defect and her father with hypertrophic cardiomyopathy.
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