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Quoted phrase not found in phrase index: "Cardiomyopathy, familial restrictive, 1"
Page 1
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.
Ortiz-Genga MF, Cuenca S, Dal Ferro M, Zorio E, Salgado-Aranda R, Climent V, Padrón-Barthe L, Duro-Aguado I, Jiménez-Jáimez J, Hidalgo-Olivares VM, García-Campo E, Lanzillo C, Suárez-Mier MP, Yonath H, Marcos-Alonso S, Ochoa JP, Santomé JL, García-Giustiniani D, Rodríguez-Garrido JL, Domínguez F, Merlo M, Palomino J, Peña ML, Trujillo JP, Martín-Vila A, Stolfo D, Molina P, Lara-Pezzi E, Calvo-Iglesias FE, Nof E, Calò L, Barriales-Villa R, Gimeno-Blanes JR, Arad M, García-Pavía P, Monserrat L. Ortiz-Genga MF, et al. J Am Coll Cardiol. 2016 Dec 6;68(22):2440-2451. doi: 10.1016/j.jacc.2016.09.927. J Am Coll Cardiol. 2016. PMID: 27908349 Free article.
RESULTS: Twenty-three truncating mutations were identified in 28 probands previously diagnosed with dilated, arrhythmogenic, or restrictive cardiomyopathies. Truncating FLNC mutations were absent in patients with other phenotypes, including 1,078 patients wit …
RESULTS: Twenty-three truncating mutations were identified in 28 probands previously diagnosed with dilated, arrhythmogenic, or restricti …
Mutation identification and prediction for severe cardiomyopathy in Alstrom syndrome, and review of the literature for cardiomyopathy.
Dedeoglu S, Dede E, Oztunc F, Gedikbasi A, Yesil G, Dedeoglu R. Dedeoglu S, et al. Orphanet J Rare Dis. 2022 Sep 15;17(1):359. doi: 10.1186/s13023-022-02483-7. Orphanet J Rare Dis. 2022. PMID: 36109815 Free PMC article. Review.
Secondarily we reviewed published mutations in ALMS1 with cardiomyopathies in the literature. METHOD: We represent new mutagenic alleles related to severe cardiomyopathy and cardiac outcome in this patient cohort. ...All patients underwent genetic and biochemical te …
Secondarily we reviewed published mutations in ALMS1 with cardiomyopathies in the literature. METHOD: We represent new mutagenic alle …
Predictors and outcomes of pacemaker implantation in patients with cardiac amyloidosis.
Saturi G, De Frutos F, Sguazzotti M, Gonzalez-Lopez E, Nardi E, Domínguez F, Ponziani A, Cabrera E, Caponetti AG, Lozano S, Massa P, Cobo-Marcos M, Accietto A, Castro-Urda V, Giovannetti A, Toquero J, Gagliardi C, Gómez-Bueno M, Rios-Tamayo R, Biagini E, Segovia J, Galiè N, García-Pavía P, Longhi S. Saturi G, et al. Heart. 2023 Dec 15;110(1):40-48. doi: 10.1136/heartjnl-2022-322315. Heart. 2023. PMID: 37414523
OBJECTIVE: We sought to investigate prevalence, incidence and prognostic implications of permanent pacemaker (PPM) implantation in patients with cardiac amyloidosis (CA), thereby identifying the predictors of time to PPM implantation. METHODS: Seven hundred eighty-seven pa …
OBJECTIVE: We sought to investigate prevalence, incidence and prognostic implications of permanent pacemaker (PPM) implantation in patients …
Genetic evaluation of familial cardiomyopathy.
Judge DP, Johnson NM. Judge DP, et al. J Cardiovasc Transl Res. 2008 Jun;1(2):144-54. doi: 10.1007/s12265-008-9025-1. Epub 2008 Apr 22. J Cardiovasc Transl Res. 2008. PMID: 20559909 Review.
Hereditary forms of hypertrophic, dilated, restrictive, and right ventricular cardiomyopathies are frequently seen. ...Today, clinical genetic testing is available for most monogenic forms of cardiomyopathy and the demand among patients and families is …
Hereditary forms of hypertrophic, dilated, restrictive, and right ventricular cardiomyopathies are frequently seen. ...Today, …
Diagnostic and therapeutic strategies for arrhythmogenic right ventricular dysplasia/cardiomyopathy patient.
Wang W, James CA, Calkins H. Wang W, et al. Europace. 2019 Jan 1;21(1):9-21. doi: 10.1093/europace/euy063. Europace. 2019. PMID: 29688316 Free PMC article. Review.
Genetic testing plays important roles in diagnosis and screening of family members. Syncope, palpitation, and lightheadedness are the most common symptoms. ...Selection of patients who are best candidates for defibrillator implantation is challenging. Exercise restricti …
Genetic testing plays important roles in diagnosis and screening of family members. Syncope, palpitation, and lightheadedness are the …
Dysferlinopathy in Tunisia: clinical spectrum, genetic background and prognostic profile.
Belhassen I, Laroussi S, Sakka S, Rekik S, Lahkim L, Dammak M, Authier FJ, Mhiri C. Belhassen I, et al. Neuromuscul Disord. 2023 Oct;33(10):718-727. doi: 10.1016/j.nmd.2023.08.007. Epub 2023 Aug 18. Neuromuscul Disord. 2023. PMID: 37716854
After 20 years of disease progression, two patients with a proximodistal phenotype (10%) developed dilated cardiomyopathy and mitral valve regurgitation. Restrictive respiratory syndrome was observed in three patients (DMAT: 1 patient, proximodistal ph …
After 20 years of disease progression, two patients with a proximodistal phenotype (10%) developed dilated cardiomyopathy and mitral …
RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy.
Al-Wakeel-Marquard N, Degener F, Herbst C, Kühnisch J, Dartsch J, Schmitt B, Kuehne T, Messroghli D, Berger F, Klaassen S. Al-Wakeel-Marquard N, et al. J Am Heart Assoc. 2019 Aug 6;8(15):e012531. doi: 10.1161/JAHA.119.012531. Epub 2019 Jul 23. J Am Heart Assoc. 2019. PMID: 31333075 Free PMC article.
Family screening included cardiac workup and genetic testing. Using cardiologic screening, we identified 17 FMs with cardiomyopathies and 30 FMs with suspected cardiomyopathies. ...In all 15 families with at least 1 FM with cardiomyopathy …
Family screening included cardiac workup and genetic testing. Using cardiologic screening, we identified 17 FMs with cardiomyopath …
TTR variants in patients with dilated cardiomyopathy: An investigation of the DCM Precision Medicine Study.
Trachtenberg BH, Jimenez J, Morris AA, Kransdorf E, Owens A, Fishbein DP, Jordan E, Kinnamon DD, Mead JO, Huggins GS, Hershberger RE; DCM Precision Medicine Study of the DCM Consortium. Trachtenberg BH, et al. Genet Med. 2022 Jul;24(7):1495-1502. doi: 10.1016/j.gim.2022.03.011. Epub 2022 Apr 18. Genet Med. 2022. PMID: 35438637 Free article.
PURPOSE: The cardiac phenotype of hereditary transthyretin amyloidosis (hTTR) usually presents as a restrictive or hypertrophic cardiomyopathy, and, although rarely observed as dilated cardiomyopathy (DCM), TTR is routinely included in DCM genetic test …
PURPOSE: The cardiac phenotype of hereditary transthyretin amyloidosis (hTTR) usually presents as a restrictive or hypertrophic ca …
Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies.
Lu C, Wu W, Liu F, Yang K, Li J, Liu Y, Wang R, Si N, Gao P, Liu Y, Zhang S, Zhang X. Lu C, et al. J Transl Med. 2018 Aug 30;16(1):241. doi: 10.1186/s12967-018-1605-5. J Transl Med. 2018. PMID: 30165862 Free PMC article.
BACKGROUND: Cardiomyopathies are the most common clinical and genetic heterogeneity cardiac diseases, and genetic contribution in particular plays a major role in patients with primary cardiomyopathies. ...METHODS: A total of 110 independent cases or families …
BACKGROUND: Cardiomyopathies are the most common clinical and genetic heterogeneity cardiac diseases, and genetic contribution in par …
70 results