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The MOGE(S) Classification for a Phenotype–Genotype Nomenclature of Cardiomyopathy

Arbustini, Eloisa, MD ; Narula, Navneet, MD ; Dec, G. William, MD ; Reddy, K. Srinath, MD, DM, MSc ; Greenberg, Barry, MD ; Kushwaha, Sudhir, MD ; Marwick, Thomas, MD ; Pinney, Sean, MD ; Bellazzi, Riccardo, BE, PhD ; Favalli, Valentina, BE, PhD ; Kramer, Christopher, MD ; Roberts, Robert, MD ; Zoghbi, William A., MD ; Bonow, Robert, MD ; Tavazzi, Luigi, MD, PhD ; Fuster, Valentin, MD, PhD ; Narula, Jagat, MD, PhD

Journal of the American College of Cardiology, 2013-12, Vol.62 (22), p.2046-2072 [Periódico revisado por pares]

New York: Elsevier Inc

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Título:
The MOGE(S) Classification for a Phenotype–Genotype Nomenclature of Cardiomyopathy
Autor: Arbustini, Eloisa, MD ; Narula, Navneet, MD ; Dec, G. William, MD ; Reddy, K. Srinath, MD, DM, MSc ; Greenberg, Barry, MD ; Kushwaha, Sudhir, MD ; Marwick, Thomas, MD ; Pinney, Sean, MD ; Bellazzi, Riccardo, BE, PhD ; Favalli, Valentina, BE, PhD ; Kramer, Christopher, MD ; Roberts, Robert, MD ; Zoghbi, William A., MD ; Bonow, Robert, MD ; Tavazzi, Luigi, MD, PhD ; Fuster, Valentin, MD, PhD ; Narula, Jagat, MD, PhD
Assuntos: Cardiology ; Cardiomyopathy ; Cardiovascular ; Cardiovascular disease ; Classification ; diastolic dysfunction ; Genotype & phenotype ; Heart ; Heart attacks ; heart failure ; heart muscle disease ; Hypoglycemia ; Internal Medicine ; myocardial hypertrophy ; systolic dysfunction ; ventricular arrhythmias
É parte de: Journal of the American College of Cardiology, 2013-12, Vol.62 (22), p.2046-2072
Descrição: A substantial increase in the knowledge of the genetic basis of cardiomyopathy has occurred, and noninvasive phenotypic characterization has become significantly more sophisticated. [...]the American Heart Association (AHA) (7) and the European Society of Cardiology (ESC) (8) in the last decade have proposed revisions to the classification of cardiomyopathic disorders. In the ESC 2008 classification, the cardiomyopathy was defined as familial when present in more than 1 member of the family.\n Disease MIM# Phenotype Inheritance Age of Onset Disease Gene Cardiac Phenotype Extracardiac Markers/Involvement of Other Organs Treatment Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia IIA 231680 AR Neonatal ETFA DCM, neonatal Nervous, skeletal, muscle, liver, kidney (often polycystic), metabolic acidosis, hypoglycemia Â Glutaric acidemia IIB 231680 AR Neonatal, childhood ETFB Sudden neonatal death Nervous, skeletal, muscle, liver Â Glutaric acidemia IIC 231680 AR Childhood to adult ETFDH DCM Nervous, skeletal, muscle, liver, kidney (often polycystic), lung, metabolic acidosis, hypoglycemia Â Primary, systemic, carnitine transporter deficiency 212140 AR Childhood to adult SLC22A5 DCM, HCM < Total plasma carnitine, hypoketotic hypoglycemia, hepatomegaly, elevated transaminases, and hyperammonemia in infants; skeletal myopathy, > creatine kinase, in childhood; cardiomyopathy, arrhythmias, or fatigability in adulthood Carnitine supplementation Chanarin-Dorfman syndrome (NLSD-I) 275630 AR Childhood to adult ABHD5 DCM Skin (ichthyosiform erythroderma), liver, muscle, nervous (with possible MR), ocular Suggested: diet low in long-chain fatty acids; retinoids for skin in patients w/o liver dysfunction Neutral lipid storage disease with myopathy (NLSD-M) 610717 AR Childhood to adult PNPLA2[low *] DCM Myopathy Â Table 5 Major Lipid Storage Disorders With Possible Myocardial Involvement MR = mental retardation; other abbreviations as in Table 1.
Editor: New York: Elsevier Inc
Idioma: Inglês

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The MOGE(S) Classification for a Phenotype–Genotype Nomenclature of Cardiomyopathy

New York: Elsevier Inc

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