Key result
A 12-day-old newborn with an exon 8 mutation of the CACNA1C gene presented with atypical Timothy syndrome characterized by a novel constellation of symptoms without dysmorphic features.
Case Report (n=1)
Atypical Timothy syndrome can present with a novel constellation of symptoms, lacking dysmorphic features and with a moderate QTc interval, suggesting a spectrum of disease.
Clinicians should consider Timothy syndrome despite absent dysmorphic features; single case extends phenotypic spectrum but remains hypothesis-generating.
Timothy syndrome (TS) is a rare, multisystem disorder most commonly associated with profound QTc prolongation and cutaneous dysmorphia arising from mutations of the L-type calcium channel. We present a case of a 12-day-old newborn who presented with respiratory distress and cyanosis. Diagnostic workup was notable for multiple cardiac abnormalities, and genetic analysis was consistent with an exon 8 mutation of the CACNA1C gene, which is diagnostic for TS type 2 (atypical TS). This patient presented with a novel constellation of symptoms, without dysmorphic features, and with a more moderate QTc interval. The heterogeneity of phenotypes suggests that this disorder may be characterized by variable expressivity or a spectrum of disease rather than a clearly defined syndrome.
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Philipp et al. (2016) conducted a case report in Timothy syndrome type 2 (atypical TS) (n=1). CACNA1C gene exon 8 mutation was evaluated. A 12-day-old newborn with an exon 8 mutation of the CACNA1C gene presented with atypical Timothy syndrome characterized by a novel constellation of symptoms without dysmorphic features.
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