title: Arrhythmogenic dilated cardiomyopathy due to a novel mutation in the desmoplakin gene.
abstract: The authors describe an 11-year-old girl who presented with congestive heart failure due to arrhythmogenic dilated cardiomyopathy. She had curly, woolly hair since birth and palmoplantar keratoderma. Molecular genetic analysis of the desmoplakin gene revealed that she was homozygous for the c.3901C>T (p.Gln1301X) change in exon 23 of the desmoplakin (DSP) gene, confirming the diagnosis of Carvajal disease. As per the Arrhythmogenic Right Ventricular Dysplasia/ Cardiomyopathy Genetic Variants Database, this is a novel mutation. She was managed with diuretics, enalapril, carvedilol and amiodarone, is presently stable, and on regular follow-up. Carvajal disease is a rare cardiocutaneous disorder and few cases have been reported in the literature. The authors review the published cases of the Naxos-Carvajal phenotype from India. Pediatricians need to be aware of this clinical entity whenever arrhythmogenic dilated cardiomyopathy is associated with woolly hair and/or palmoplantar keratoderma.
authors.affiliation: Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry 605006, India, drsriramk@yahoo.com
authors.forename: Sriram
authors.initials: S
authors.lastname: Krishnamurthy
authors.forename: B
authors.initials: B
authors.lastname: Adhisivam
authors.forename: Robert M
authors.initials: RM
authors.lastname: Hamilton
authors.forename: Berivan
authors.initials: B
authors.lastname: Baskin
authors.forename: Niranjan
authors.initials: N
authors.lastname: Biswal
authors.forename: Manish
authors.initials: M
authors.lastname: Kumar
mesh_terms: D009202:Cardiomyopathies / Q000175:diagnosis / Q000235:genetics*; D002311:Cardiomyopathy, Dilated; D002648:Child; D051180:Desmoplakins / Q000235:genetics*; D005260:Female; D006201:Hair Diseases / Q000175:diagnosis / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007194:India; D007645:Keratoderma, Palmoplantar / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation
chemical_list: C495294:DSP protein, human; D051180:Desmoplakins