Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His

• Published in: American journal of medical genetics. Part A Vol. 155; no. 10; pp. 2529 - 2533
• Main Authors: Wakabayashi, Yasushi, Yamazaki, Kyohei, Narumi, Yoko, Fuseya, Satoshi, Horigome, Miki, Wakui, Keiko, Fukushima, Yoshimitsu, Matsubara, Yoichi, Aoki, Yoko, Kosho, Tomoki
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01-10-2011; Wiley-Liss; Wiley Subscription Services, Inc
• Subjects: Adult; Biological and medical sciences; Cardiac dysrhythmias; Cardiology. Vascular system; Cardiomyopathy; Cardiomyopathy, Hypertrophic - genetics; Cardiomyopathy, Hypertrophic - pathology; Cardiomyopathy, Hypertrophic - therapy; codon 510; Codons; Complex syndromes; Congenital defects; congestive heart failure; Defibrillators; Defibrillators, Implantable; DNA Mutational Analysis; DNA Primers - genetics; Female; Heart; Heart diseases; Humans; hypertrophic cardiomyopathy; implantable cardioverter defibrillator; LEOPARD syndrome; LEOPARD Syndrome - genetics; LEOPARD Syndrome - pathology; LEOPARD Syndrome - therapy; Medical genetics; Medical sciences; Mutation; Mutation, Missense - genetics; Myocarditis. Cardiomyopathies; nonsustained ventricular tachycardia; Prognosis; Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics; PTPN11; Radiotherapy. Instrumental treatment. Physiotherapy. Reeducation. Rehabilitation, orthophony, crenotherapy. Diet therapy and various other treatments (general aspects); Skin; Tachycardia; Human; Intensive cardiocirculatory care; Arrhythmia; codon 510; nonsustained ventricular tachycardia; implantable cardioverter defibrillator; Instrumentation therapy; Patient; Cardiovascular disease; Ventricular tachycardia; PTPN11; Myocardial disease; Genital diseases; Genetic disease; Progressive; Codon; Implanted; Heart disease; Hypertrophic cardiomyopathy; ENT disease; Mutation; Defibrillation; LEOPARD syndrome; Defibrillator
• ISSN: 1552-4825; 1552-4833; 1552-4833
• DOI: 10.1002/ajmg.a.34194

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.