title: Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His.
abstract: LEOPARD syndrome (LS), generally caused by heterozygous mutations in the PTPN11 gene, is a rare autosomal-dominant multiple congenital anomaly condition, characterized by skin, facial, and cardiac abnormalities. Prognosis appears to be related to the type of structural, myocardial, and arrhythmogenic cardiac disease, especially hypertrophic cardiomyopathy (HCM). We report on a woman with LS and a novel Gln510His mutation in PTPN11, who had progressive HCM with congestive heart failure and nonsustained ventricular tachycardia, successfully treated with implantable cardioverter defibrillator (ICD). Comparing our patient to the literature suggests that specific mutations at codon 510 in PTPN11 (Gln510Glu, Gln510His, but not Gln510Pro) might be a predictor of fatal cardiac events in LS. Molecular risk stratification and careful evaluations for an indication of ICD implantation are likely to be beneficial in managing patients with LS and HCM.
authors: Department of Cardiovascular Internal Medicine, Prefectural Kiso Hospital, Japan.
authors: Yasushi
authors: Y
authors: Wakabayashi
authors: Kyohei
authors: K
authors: Yamazaki
authors: Yoko
authors: Y
authors: Narumi
authors: Satoshi
authors: S
authors: Fuseya
authors: Miki
authors: M
authors: Horigome
authors: Keiko
authors: K
authors: Wakui
authors: Yoshimitsu
authors: Y
authors: Fukushima
authors: Yoichi
authors: Y
authors: Matsubara
authors: Yoko
authors: Y
authors: Aoki
authors: Tomoki
authors: T
authors: Kosho
mesh_terms: D000328:Adult; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics / Q000473:pathology / Q000628:therapy*; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D017147:Defibrillators, Implantable; D005260:Female; D006801:Humans; D044542:LEOPARD Syndrome / Q000235:genetics* / Q000473:pathology* / Q000628:therapy*; D020125:Mutation, Missense / Q000235:genetics*; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics*
chemical_list: D017931:DNA Primers; C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11