Genetic testing in pediatric cardiomyopathies: Implications for diagnosis and management
Pediatric cardiomyopathies, such us dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM), left ventricular noncompaction (LVNC) and arrhythmogenic cardiomyopathy (AC), are a heterogeneous group of primary myocardial diseases, often with a genetic nature,...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Girolami, Francesca [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2018transfer abstract |
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| Umfang: |
7 |
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Enthalten in: Synthesis and characterization of novel barium iron phosphates: Insight into new structure types tailored by hydrogen atoms - Sun, Li-Zhi ELSEVIER, 2014transfer abstract, Amsterdam [u.a.] |
|---|---|
| Übergeordnetes Werk: |
volume:51 ; year:2018 ; pages:24-30 ; extent:7 |
| Links: |
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| DOI / URN: |
10.1016/j.ppedcard.2018.09.005 |
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| 520 | |a Pediatric cardiomyopathies, such us dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM), left ventricular noncompaction (LVNC) and arrhythmogenic cardiomyopathy (AC), are a heterogeneous group of primary myocardial diseases, often with a genetic nature, which represent an important cause of cardiovascular morbidity and mortality in children. Genetic etiologies comprise sarcomeric and citoskeletal variants as well as Inborn Errors of Metabolism. Paralleling progress in clinical genetic testing, our understanding of the genetic causes of cardiomyopathies both in adults and in children is rapidly improving. In children presenting features suggestive of cardiomyopathies it is recommended to test for the specific causative genes to confirm clinical diagnosis, clarify prognosis and subsequently provide pre-symptomatic testing of at risk relatives. In family members, genetic testing may provide information for risk stratification and interpretation of dubious phenotypes. | ||
| 520 | |a Pediatric cardiomyopathies, such us dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM), left ventricular noncompaction (LVNC) and arrhythmogenic cardiomyopathy (AC), are a heterogeneous group of primary myocardial diseases, often with a genetic nature, which represent an important cause of cardiovascular morbidity and mortality in children. Genetic etiologies comprise sarcomeric and citoskeletal variants as well as Inborn Errors of Metabolism. Paralleling progress in clinical genetic testing, our understanding of the genetic causes of cardiomyopathies both in adults and in children is rapidly improving. In children presenting features suggestive of cardiomyopathies it is recommended to test for the specific causative genes to confirm clinical diagnosis, clarify prognosis and subsequently provide pre-symptomatic testing of at risk relatives. In family members, genetic testing may provide information for risk stratification and interpretation of dubious phenotypes. | ||
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10.1016/j.ppedcard.2018.09.005 doi GBV00000000000441.pica (DE-627)ELV045099227 (ELSEVIER)S1058-9813(18)30109-7 DE-627 ger DE-627 rakwb eng 540 VZ 530 620 VZ 52.56 bkl Girolami, Francesca verfasserin aut Genetic testing in pediatric cardiomyopathies: Implications for diagnosis and management 2018transfer abstract 7 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Pediatric cardiomyopathies, such us dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM), left ventricular noncompaction (LVNC) and arrhythmogenic cardiomyopathy (AC), are a heterogeneous group of primary myocardial diseases, often with a genetic nature, which represent an important cause of cardiovascular morbidity and mortality in children. Genetic etiologies comprise sarcomeric and citoskeletal variants as well as Inborn Errors of Metabolism. Paralleling progress in clinical genetic testing, our understanding of the genetic causes of cardiomyopathies both in adults and in children is rapidly improving. In children presenting features suggestive of cardiomyopathies it is recommended to test for the specific causative genes to confirm clinical diagnosis, clarify prognosis and subsequently provide pre-symptomatic testing of at risk relatives. In family members, genetic testing may provide information for risk stratification and interpretation of dubious phenotypes. Pediatric cardiomyopathies, such us dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM), left ventricular noncompaction (LVNC) and arrhythmogenic cardiomyopathy (AC), are a heterogeneous group of primary myocardial diseases, often with a genetic nature, which represent an important cause of cardiovascular morbidity and mortality in children. Genetic etiologies comprise sarcomeric and citoskeletal variants as well as Inborn Errors of Metabolism. Paralleling progress in clinical genetic testing, our understanding of the genetic causes of cardiomyopathies both in adults and in children is rapidly improving. In children presenting features suggestive of cardiomyopathies it is recommended to test for the specific causative genes to confirm clinical diagnosis, clarify prognosis and subsequently provide pre-symptomatic testing of at risk relatives. In family members, genetic testing may provide information for risk stratification and interpretation of dubious phenotypes. Morrone, Amelia oth Brambilla, Alice oth Ferri, Lorenzo oth Donati, Maria Alice oth Olivotto, Iacopo oth Favilli, Silvia oth Enthalten in Elsevier Science Sun, Li-Zhi ELSEVIER Synthesis and characterization of novel barium iron phosphates: Insight into new structure types tailored by hydrogen atoms 2014transfer abstract Amsterdam [u.a.] (DE-627)ELV023068957 volume:51 year:2018 pages:24-30 extent:7 https://doi.org/10.1016/j.ppedcard.2018.09.005 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U GBV_ILN_70 GBV_ILN_72 52.56 Regenerative Energieformen alternative Energieformen VZ AR 51 2018 24-30 7 |
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10.1016/j.ppedcard.2018.09.005 doi GBV00000000000441.pica (DE-627)ELV045099227 (ELSEVIER)S1058-9813(18)30109-7 DE-627 ger DE-627 rakwb eng 540 VZ 530 620 VZ 52.56 bkl Girolami, Francesca verfasserin aut Genetic testing in pediatric cardiomyopathies: Implications for diagnosis and management 2018transfer abstract 7 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Pediatric cardiomyopathies, such us dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM), left ventricular noncompaction (LVNC) and arrhythmogenic cardiomyopathy (AC), are a heterogeneous group of primary myocardial diseases, often with a genetic nature, which represent an important cause of cardiovascular morbidity and mortality in children. Genetic etiologies comprise sarcomeric and citoskeletal variants as well as Inborn Errors of Metabolism. Paralleling progress in clinical genetic testing, our understanding of the genetic causes of cardiomyopathies both in adults and in children is rapidly improving. In children presenting features suggestive of cardiomyopathies it is recommended to test for the specific causative genes to confirm clinical diagnosis, clarify prognosis and subsequently provide pre-symptomatic testing of at risk relatives. In family members, genetic testing may provide information for risk stratification and interpretation of dubious phenotypes. Pediatric cardiomyopathies, such us dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM), left ventricular noncompaction (LVNC) and arrhythmogenic cardiomyopathy (AC), are a heterogeneous group of primary myocardial diseases, often with a genetic nature, which represent an important cause of cardiovascular morbidity and mortality in children. Genetic etiologies comprise sarcomeric and citoskeletal variants as well as Inborn Errors of Metabolism. Paralleling progress in clinical genetic testing, our understanding of the genetic causes of cardiomyopathies both in adults and in children is rapidly improving. In children presenting features suggestive of cardiomyopathies it is recommended to test for the specific causative genes to confirm clinical diagnosis, clarify prognosis and subsequently provide pre-symptomatic testing of at risk relatives. In family members, genetic testing may provide information for risk stratification and interpretation of dubious phenotypes. Morrone, Amelia oth Brambilla, Alice oth Ferri, Lorenzo oth Donati, Maria Alice oth Olivotto, Iacopo oth Favilli, Silvia oth Enthalten in Elsevier Science Sun, Li-Zhi ELSEVIER Synthesis and characterization of novel barium iron phosphates: Insight into new structure types tailored by hydrogen atoms 2014transfer abstract Amsterdam [u.a.] (DE-627)ELV023068957 volume:51 year:2018 pages:24-30 extent:7 https://doi.org/10.1016/j.ppedcard.2018.09.005 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U GBV_ILN_70 GBV_ILN_72 52.56 Regenerative Energieformen alternative Energieformen VZ AR 51 2018 24-30 7 |
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10.1016/j.ppedcard.2018.09.005 doi GBV00000000000441.pica (DE-627)ELV045099227 (ELSEVIER)S1058-9813(18)30109-7 DE-627 ger DE-627 rakwb eng 540 VZ 530 620 VZ 52.56 bkl Girolami, Francesca verfasserin aut Genetic testing in pediatric cardiomyopathies: Implications for diagnosis and management 2018transfer abstract 7 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Pediatric cardiomyopathies, such us dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM), left ventricular noncompaction (LVNC) and arrhythmogenic cardiomyopathy (AC), are a heterogeneous group of primary myocardial diseases, often with a genetic nature, which represent an important cause of cardiovascular morbidity and mortality in children. Genetic etiologies comprise sarcomeric and citoskeletal variants as well as Inborn Errors of Metabolism. Paralleling progress in clinical genetic testing, our understanding of the genetic causes of cardiomyopathies both in adults and in children is rapidly improving. In children presenting features suggestive of cardiomyopathies it is recommended to test for the specific causative genes to confirm clinical diagnosis, clarify prognosis and subsequently provide pre-symptomatic testing of at risk relatives. In family members, genetic testing may provide information for risk stratification and interpretation of dubious phenotypes. Pediatric cardiomyopathies, such us dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM), left ventricular noncompaction (LVNC) and arrhythmogenic cardiomyopathy (AC), are a heterogeneous group of primary myocardial diseases, often with a genetic nature, which represent an important cause of cardiovascular morbidity and mortality in children. Genetic etiologies comprise sarcomeric and citoskeletal variants as well as Inborn Errors of Metabolism. Paralleling progress in clinical genetic testing, our understanding of the genetic causes of cardiomyopathies both in adults and in children is rapidly improving. In children presenting features suggestive of cardiomyopathies it is recommended to test for the specific causative genes to confirm clinical diagnosis, clarify prognosis and subsequently provide pre-symptomatic testing of at risk relatives. In family members, genetic testing may provide information for risk stratification and interpretation of dubious phenotypes. Morrone, Amelia oth Brambilla, Alice oth Ferri, Lorenzo oth Donati, Maria Alice oth Olivotto, Iacopo oth Favilli, Silvia oth Enthalten in Elsevier Science Sun, Li-Zhi ELSEVIER Synthesis and characterization of novel barium iron phosphates: Insight into new structure types tailored by hydrogen atoms 2014transfer abstract Amsterdam [u.a.] (DE-627)ELV023068957 volume:51 year:2018 pages:24-30 extent:7 https://doi.org/10.1016/j.ppedcard.2018.09.005 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U GBV_ILN_70 GBV_ILN_72 52.56 Regenerative Energieformen alternative Energieformen VZ AR 51 2018 24-30 7 |
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Synthesis and characterization of novel barium iron phosphates: Insight into new structure types tailored by hydrogen atoms |
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Synthesis and characterization of novel barium iron phosphates: Insight into new structure types tailored by hydrogen atoms |
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Genetic testing in pediatric cardiomyopathies: Implications for diagnosis and management |
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Genetic testing in pediatric cardiomyopathies: Implications for diagnosis and management |
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Girolami, Francesca |
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Synthesis and characterization of novel barium iron phosphates: Insight into new structure types tailored by hydrogen atoms |
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Synthesis and characterization of novel barium iron phosphates: Insight into new structure types tailored by hydrogen atoms |
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Girolami, Francesca |
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10.1016/j.ppedcard.2018.09.005 |
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genetic testing in pediatric cardiomyopathies: implications for diagnosis and management |
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Genetic testing in pediatric cardiomyopathies: Implications for diagnosis and management |
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Pediatric cardiomyopathies, such us dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM), left ventricular noncompaction (LVNC) and arrhythmogenic cardiomyopathy (AC), are a heterogeneous group of primary myocardial diseases, often with a genetic nature, which represent an important cause of cardiovascular morbidity and mortality in children. Genetic etiologies comprise sarcomeric and citoskeletal variants as well as Inborn Errors of Metabolism. Paralleling progress in clinical genetic testing, our understanding of the genetic causes of cardiomyopathies both in adults and in children is rapidly improving. In children presenting features suggestive of cardiomyopathies it is recommended to test for the specific causative genes to confirm clinical diagnosis, clarify prognosis and subsequently provide pre-symptomatic testing of at risk relatives. In family members, genetic testing may provide information for risk stratification and interpretation of dubious phenotypes. |
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Pediatric cardiomyopathies, such us dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM), left ventricular noncompaction (LVNC) and arrhythmogenic cardiomyopathy (AC), are a heterogeneous group of primary myocardial diseases, often with a genetic nature, which represent an important cause of cardiovascular morbidity and mortality in children. Genetic etiologies comprise sarcomeric and citoskeletal variants as well as Inborn Errors of Metabolism. Paralleling progress in clinical genetic testing, our understanding of the genetic causes of cardiomyopathies both in adults and in children is rapidly improving. In children presenting features suggestive of cardiomyopathies it is recommended to test for the specific causative genes to confirm clinical diagnosis, clarify prognosis and subsequently provide pre-symptomatic testing of at risk relatives. In family members, genetic testing may provide information for risk stratification and interpretation of dubious phenotypes. |
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Pediatric cardiomyopathies, such us dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM), left ventricular noncompaction (LVNC) and arrhythmogenic cardiomyopathy (AC), are a heterogeneous group of primary myocardial diseases, often with a genetic nature, which represent an important cause of cardiovascular morbidity and mortality in children. Genetic etiologies comprise sarcomeric and citoskeletal variants as well as Inborn Errors of Metabolism. Paralleling progress in clinical genetic testing, our understanding of the genetic causes of cardiomyopathies both in adults and in children is rapidly improving. In children presenting features suggestive of cardiomyopathies it is recommended to test for the specific causative genes to confirm clinical diagnosis, clarify prognosis and subsequently provide pre-symptomatic testing of at risk relatives. In family members, genetic testing may provide information for risk stratification and interpretation of dubious phenotypes. |
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Genetic testing in pediatric cardiomyopathies: Implications for diagnosis and management |
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Morrone, Amelia Brambilla, Alice Ferri, Lorenzo Donati, Maria Alice Olivotto, Iacopo Favilli, Silvia |
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