INTRODUCTION: Russell-Silver Syndrome (RSS) is a genetically determined condition characterized by severe intrauterine and postnatal growth retardation; relative macrocephaly; a small, triangular face; and fifth-finger clinodactyly. The etiology of RSS involves epigenetic regulation through either uniparental disomy or genomic imprinting via DNA methylation. There has been no documented association between RSS and cardiomyopathy. METHODS: We present an original case of a 32-year-old woman with RSS with dilated a cardiomyopathy who on cardiac biopsy showed occasional hypertrophic and atrophic myocytes with no evidence of inflammation, abnormal sarcomeres and disintegration of the Z bands on ultrastructural analysis, abnormal desmin, and normal C9 immunoreactivity. CONCLUSION: This case represents the first reported association between RSS and cardiomyopathy. Given the complex mechanisms of disease etiology in RSS, this novel case provides insights into the mechanism of progressive dilated cardiomyopathy in an older individual with RSS.
INTRODUCTION:Russell-Silver Syndrome (RSS) is a genetically determined condition characterized by severe intrauterine and postnatal growth retardation; relative macrocephaly; a small, triangular face; and fifth-finger clinodactyly. The etiology of RSS involves epigenetic regulation through either uniparental disomy or genomic imprinting via DNA methylation. There has been no documented association between RSS and cardiomyopathy. METHODS: We present an original case of a 32-year-old woman with RSS with dilated a cardiomyopathy who on cardiac biopsy showed occasional hypertrophic and atrophic myocytes with no evidence of inflammation, abnormal sarcomeres and disintegration of the Z bands on ultrastructural analysis, abnormal desmin, and normal C9 immunoreactivity. CONCLUSION: This case represents the first reported association between RSS and cardiomyopathy. Given the complex mechanisms of disease etiology in RSS, this novel case provides insights into the mechanism of progressive dilated cardiomyopathy in an older individual with RSS.
Authors: Emma L Wakeling; Frédéric Brioude; Oluwakemi Lokulo-Sodipe; Susan M O'Connell; Jennifer Salem; Jet Bliek; Ana P M Canton; Krystyna H Chrzanowska; Justin H Davies; Renuka P Dias; Béatrice Dubern; Miriam Elbracht; Eloise Giabicani; Adda Grimberg; Karen Grønskov; Anita C S Hokken-Koelega; Alexander A Jorge; Masayo Kagami; Agnes Linglart; Mohamad Maghnie; Klaus Mohnike; David Monk; Gudrun E Moore; Philip G Murray; Tsutomu Ogata; Isabelle Oliver Petit; Silvia Russo; Edith Said; Meropi Toumba; Zeynep Tümer; Gerhard Binder; Thomas Eggermann; Madeleine D Harbison; I Karen Temple; Deborah J G Mackay; Irène Netchine Journal: Nat Rev Endocrinol Date: 2016-09-02 Impact factor: 43.330
Authors: Oluwakemi Lokulo-Sodipe; Lisa Ballard; Jenny Child; Hazel M Inskip; Christopher D Byrne; Miho Ishida; Gudrun E Moore; Emma L Wakeling; Angela Fenwick; Deborah J G Mackay; Justin Huw Davies; I Karen Temple Journal: J Med Genet Date: 2020-02-13 Impact factor: 6.318