Cardiac Arrest Refractory to Standard Intervention in Atypical Timothy Syndrome (Lqt8 Type 2). Issue 2 (1st April 2016)

• Record Type: Journal Article
• Authors: Philipp, Lucas R.; Rodriguez, Fred H.
• Is Part Of: Proceedings. Volume 29:Issue 2(2016)
• Page Start: 160
• Page End: 162
• Publication Date: 2016-04-01
• Subjects: Medicine -- Periodicals; Medicine; Medicine -- Periodicals; Periodicals; Electronic journals; 616.005
• DOI: 10.1080/08998280.2016.11929398
• Languages: English
• ISSNs: 0899-8280

Abstract

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.