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Quoted phrase not found in phrase index: "Familial syndrome associated with hypertrophic cardiomyopathy"
Page 1
Genetic Basis of Childhood Cardiomyopathy.
Bagnall RD, Singer ES, Wacker J, Nowak N, Ingles J, King I, Macciocca I, Crowe J, Ronan A, Weintraub RG, Semsarian C. Bagnall RD, et al. Circ Genom Precis Med. 2022 Dec;15(6):e003686. doi: 10.1161/CIRCGEN.121.003686. Epub 2022 Oct 11. Circ Genom Precis Med. 2022. PMID: 36252119 Free article.
Children mostly had hypertrophic cardiomyopathy (n=98, 44%) or dilated cardiomyopathy (n=89, 40%). The highest genetic testing diagnostic yields were in restrictive cardiomyopathy (n=16, 80%) and hypertrophic cardiomyopathy (n=65, 66%), a …
Children mostly had hypertrophic cardiomyopathy (n=98, 44%) or dilated cardiomyopathy (n=89, 40%). The highest genetic …
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.
Lopes LR, Syrris P, Guttmann OP, O'Mahony C, Tang HC, Dalageorgou C, Jenkins S, Hubank M, Monserrat L, McKenna WJ, Plagnol V, Elliott PM. Lopes LR, et al. Heart. 2015 Feb;101(4):294-301. doi: 10.1136/heartjnl-2014-306387. Epub 2014 Oct 28. Heart. 2015. PMID: 25351510 Free PMC article.
OBJECTIVE: A predictable relation between genotype and disease expression is needed in order to use genetic testing for clinical decision-making in hypertrophic cardiomyopathy (HCM). The primary aims of this study were to examine the phenotypes associated wit …
OBJECTIVE: A predictable relation between genotype and disease expression is needed in order to use genetic testing for clinical decision-ma …
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
Hathaway J, Heliö K, Saarinen I, Tallila J, Seppälä EH, Tuupanen S, Turpeinen H, Kangas-Kontio T, Schleit J, Tommiska J, Kytölä V, Valori M, Muona M, Sistonen J, Gentile M, Salmenperä P, Myllykangas S, Paananen J, Alastalo TP, Heliö T, Koskenvuo J. Hathaway J, et al. BMC Cardiovasc Disord. 2021 Mar 5;21(1):126. doi: 10.1186/s12872-021-01927-5. BMC Cardiovasc Disord. 2021. PMID: 33673806 Free PMC article.
BACKGROUND: Genetic testing in hypertrophic cardiomyopathy (HCM) is a published guideline-based recommendation. ...The majority of diagnostic variants involved genes encoding the sarcomere (85.0%) followed by 4.3% of diagnostic variants identified in the RASopathy g …
BACKGROUND: Genetic testing in hypertrophic cardiomyopathy (HCM) is a published guideline-based recommendation. ...The majorit …
The heart in RASopathies.
Delogu AB, Limongelli G, Versacci P, Adorisio R, Kaski JP, Blandino R, Maiolo S, Monda E, Putotto C, De Rosa G, Chatfield KC, Gelb BD, Calcagni G. Delogu AB, et al. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):440-451. doi: 10.1002/ajmg.c.32014. Epub 2022 Nov 21. Am J Med Genet C Semin Med Genet. 2022. PMID: 36408797 Review.
The cardiovascular phenotype associated with RASopathies has expanded far beyond the original descriptions of pulmonary valve stenosis by Dr Jaqueline Noonan in 1968 and hypertrophic cardiomyopathy by Hirsch et al. in 1975. ...Characterization and understandi …
The cardiovascular phenotype associated with RASopathies has expanded far beyond the original descriptions of pulmonary valve stenosi …
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J, Goldstein J, Thaxton C, Caleshu C, Corty EW, Crowley SB, Dougherty K, Harrison SM, McGlaughon J, Milko LV, Morales A, Seifert BA, Strande N, Thomson K, Peter van Tintelen J, Wallace K, Walsh R, Wells Q, Whiffin N, Witkowski L, Semsarian C, Ware JS, Hershberger RE, Funke B. Ingles J, et al. Circ Genom Precis Med. 2019 Feb;12(2):e002460. doi: 10.1161/CIRCGEN.119.002460. Circ Genom Precis Med. 2019. PMID: 30681346 Free PMC article.
BACKGROUND: Genetic testing for families with hypertrophic cardiomyopathy (HCM) provides a significant opportunity to improve care. ...There were 12 of 24 syndromic genes definitively associated with isolated left ventricular hypertrophy. ...
BACKGROUND: Genetic testing for families with hypertrophic cardiomyopathy (HCM) provides a significant opportunity to i …
Exercise and Inherited Arrhythmias.
Cheung CC, Laksman ZW, Mellor G, Sanatani S, Krahn AD. Cheung CC, et al. Can J Cardiol. 2016 Apr;32(4):452-8. doi: 10.1016/j.cjca.2016.01.007. Epub 2016 Jan 14. Can J Cardiol. 2016. PMID: 26927864 Review.
Sudden cardiac death (SCD) in an apparently healthy individual is a tragedy that prompts a series of investigations to identify the cause of death and to prevent SCD in potentially at-risk family members. Several inherited channelopathies and cardiomyopathies, including lo …
Sudden cardiac death (SCD) in an apparently healthy individual is a tragedy that prompts a series of investigations to identify the cause of …
Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion.
McMacken G, Lochmüller H, Bansagi B, Pyle A, Lochmüller A, Chinnery PF, Laurie S, Beltran S, Matalonga L, Horvath R. McMacken G, et al. J Neurol. 2020 Dec;267(12):3643-3649. doi: 10.1007/s00415-020-10059-3. Epub 2020 Jul 12. J Neurol. 2020. PMID: 32656641 Free PMC article.
They also developed scoliosis, leading to respiratory problems. In their late 30's, both siblings developed a hypertrophic cardiomyopathy and died of sudden cardiac death at age 43 and 40, respectively. ...CONCLUSIONS: The presentation of our patients raises the pos …
They also developed scoliosis, leading to respiratory problems. In their late 30's, both siblings developed a hypertrophic cardiom …
Sports-Related Sudden Cardiac Injury or Death.
Greene EA, Punnoose A. Greene EA, et al. Adolesc Med State Art Rev. 2015 Dec;26(3):507-27. Adolesc Med State Art Rev. 2015. PMID: 27282010 Review.
A family history of CPVT, for example, is hard to elicit unless this diagnosis has already been established in an affected family member. The keys will be the timing of symptoms and the documentation of arrhythmia with exercise. The ECG at baseline in CPVT may be de …
A family history of CPVT, for example, is hard to elicit unless this diagnosis has already been established in an affected family …
Familial hypertrophic cardiomyopathy: clinical features, molecular genetics and molecular genetic testing.
Taylor MR, Carniel E, Mestroni L. Taylor MR, et al. Expert Rev Mol Diagn. 2004 Jan;4(1):99-113. doi: 10.1586/14737159.4.1.99. Expert Rev Mol Diagn. 2004. PMID: 14711353 Review.
Hypertrophic cardiomyopathy is a Mendelian disease characterized by cardiac hypertrophy. ...In this review, the clinical and molecular genetics of hypertrophic cardiomyopathy are described....
Hypertrophic cardiomyopathy is a Mendelian disease characterized by cardiac hypertrophy. ...In this review, the clinical and m …
Genetic Testing for Diagnosis of Hypertrophic Cardiomyopathy Mimics: Yield and Clinical Significance.
Hoss S, Habib M, Silver J, Care M, Chan RH, Hanneman K, Morel CF, Iwanochko RM, Gollob MH, Rakowski H, Adler A. Hoss S, et al. Circ Genom Precis Med. 2020 Apr;13(2):e002748. doi: 10.1161/CIRCGEN.119.002748. Epub 2020 Mar 9. Circ Genom Precis Med. 2020. PMID: 32150461 Free article.
Background Genetic testing is helpful for diagnosis of hypertrophic cardiomyopathy (HCM) mimics. Little data are available regarding the yield of such testing and its clinical impact. ...In 1.45% of cases, a pathogenic or likely pathogenic variant in one of these ge …
Background Genetic testing is helpful for diagnosis of hypertrophic cardiomyopathy (HCM) mimics. Little data are available reg …
122 results