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Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His
Author(s) -
Wakabayashi Yasushi,
Yamazaki Kyohei,
Narumi Yoko,
Fuseya Satoshi,
Horigome Miki,
Wakui Keiko,
Fukushima Yoshimitsu,
Matsubara Yoichi,
Aoki Yoko,
Kosho Tomoki
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.34194
Subject(s) - ptpn11 , medicine , hypertrophic cardiomyopathy , cardiology , implantable cardioverter defibrillator , ventricular tachycardia , sudden cardiac death , cardiomyopathy , heart failure , heart disease , gene mutation , mutation , gene , genetics , cancer , colorectal cancer , biology , kras
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. © 2011 Wiley‐Liss, Inc.