title: Cardiac arrest refractory to standard intervention in atypical Timothy syndrome (LQT8 type 2).
abstract: 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.
authors.affiliation: Emory University School of Medicine (Philipp, Rodriguez) and Sibley Heart Center Cardiology (Rodriguez), Atlanta, Georgia.
authors.forename: Lucas R
authors.initials: LR
authors.lastname: Philipp
authors.affiliation: Emory University School of Medicine (Philipp, Rodriguez) and Sibley Heart Center Cardiology (Rodriguez), Atlanta, Georgia.
authors.forename: Fred H
authors.initials: FH
authors.lastname: Rodriguez