Key result
Novel MYO6 variant linked to congenital deafness, recurrent SVT, and prolonged QTc in an infant.
Why the study?
Variants in MYO6 cause hereditary deafness and have occasionally been linked to cardiac abnormalities, but supraventricular tachycardia had not previously been associated with this gene.
Case Report (n=1)
A novel homozygous frameshift variant in MYO6 was identified in an infant with congenital deafness, SVT, and prolonged QT, suggesting a possible novel association between MYO6 dysfunction and arrhythmogenic susceptibility.
Answers are grounded in this paper and cite their sources.
Hypothesis-generating link between MYO6 variant and infantile SVT with QT prolongation; validation needed before clinical consideration.
Background Variants in MYO6 are well known causes of hereditary deafness and have occasionally been linked to cardiac abnormalities, including hypertrophic cardiomyopathy and prolonged QT interval. However, supraventricular tachycardia (SVT) has not previously been associated with this gene. Aim To describe a neonate with congenital deafness, paroxysmal SVT, and QT prolongation carrying a novel homozygous MYO6 variant. Methods A 2‐month‐old male infant with bilateral congenital sensorineural hearing loss presented with recurrent paroxysmal SVT. Clinical evaluation included ECG, Holter monitoring, echocardiography, and laboratory studies. Whole‐exome sequencing followed by Sanger validation was performed to identify genetic alterations. Results The infant experienced repeated SVT episodes responsive to adenosine and was noted to have a prolonged QTc interval of 569 ms in sinus rhythm. Echocardiography showed mild LV enlargement with preserved function and no structural anomalies. Genetic testing revealed a novel homozygous frameshift variant in MYO6 (c.2496_2497delAC; p.H833Qfs*5). Conclusion While causality cannot be confirmed, this observation raises the possibility that MYO6 dysfunction may contribute to arrhythmogenic susceptibility in addition to its established role in auditory function. Further studies are warranted to clarify the relationship between MYO6 variants and cardiac conduction abnormalities.
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Kalayinia et al. (2026) conducted a case report in Congenital deafness, paroxysmal SVT, and QT prolongation (n=1). Homozygous MYO6 variant (c.2496_2497delAC; p.H833Qfs*5) was evaluated on Genetic alterations and cardiac conduction abnormalities. A novel homozygous frameshift variant in MYO6 was identified in a 2-month-old male infant presenting with congenital deafness, recurrent paroxysmal SVT, and a prolonged QTc interval of 569 ms.
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