{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T23:31:51Z","timestamp":1787959911668,"version":"build-2784847793"},"reference-count":50,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,10,7]]},"DOI":"10.7759\/cureus.70993","type":"journal-article","created":{"date-parts":[[2024,10,7]],"date-time":"2024-10-07T12:48:30Z","timestamp":1728305310000},"source":"Crossref","is-referenced-by-count":1,"title":["Impact of Genetic Testing on the Diagnosis, Management, and Prognosis of Hypertrophic Cardiomyopathy: A Systematic Review"],"prefix":"10.7759","author":[{"given":"Billy","family":"McBenedict","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wilhelmina N","family":"Hauwanga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel S","family":"Amadi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aaron A","family":"Abraham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rithika","family":"Sivakumar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madeleine O","family":"Okere","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melvin Chun Yang","family":"Yau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nematalla","family":"Balla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thasneem","family":"Rahumathulla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berley","family":"Alphonse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Lima Pess\u00f4a","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2015.01.019","article-title":"New perspectives on the prevalence of hypertrophic cardiomyopathy","volume":"65","author":"Semsarian C","year":"2015","unstructured":"Semsarian C, Ingles J, Maron MS, Maron BJ. New perspectives on the prevalence of hypertrophic cardiomyopathy. J Am Coll Cardiol. 2015, 65:1249-54. 10.1016\/j.jacc.2015.01.019","journal-title":"J Am Coll Cardiol"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.3390\/biom9120878","article-title":"Hypertrophic cardiomyopathy: an overview of genetics and management","volume":"9","author":"Teekakirikul P","year":"2019","unstructured":"Teekakirikul P, Zhu W, Huang HC, Fung E. Hypertrophic cardiomyopathy: an overview of genetics and management. Biomolecules. 2019, 9:10.3390\/biom9120878","journal-title":"Biomolecules"},{"key":"ref3","article-title":"Hypertrophic cardiomyopathy","author":"Basit H","year":"2024","unstructured":"Basit H, Alahmadi MH, Rout P, Sharma S. Hypertrophic cardiomyopathy. StatPearls [Internet]. StatPearls Publishing, Treasure Island (FL); 2024."},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1097\/HCO.0000000000000939","article-title":"Risk factors of sudden cardiac death in hypertrophic cardiomyopathy","volume":"37","author":"Hong Y","year":"2022","unstructured":"Hong Y, Su WW, Li X. Risk factors of sudden cardiac death in hypertrophic cardiomyopathy. Curr Opin Cardiol. 2022, 37:15-21. 10.1097\/HCO.0000000000000939","journal-title":"Curr Opin Cardiol"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.3390\/ijms241310510","article-title":"An update on mybpc3 gene mutation in hypertrophic cardiomyopathy","volume":"24","author":"Tudurachi BS","year":"2023","unstructured":"Tudurachi BS, Z\u0103voi A, Leonte A, et al.. An update on mybpc3 gene mutation in hypertrophic cardiomyopathy. Int J Mol Sci. 2023, 24:10.3390\/ijms241310510","journal-title":"Int J Mol Sci"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002\/clc.24207","article-title":"A systematic review of present and future pharmaco-structural therapies for hypertrophic cardiomyopathy","volume":"47","author":"Sawan MA","year":"2024","unstructured":"Sawan MA, Prabakaran S, D'Souza M, Behbahani-Nejad O, Gold ME, Williams BR, Bilen O. A systematic review of present and future pharmaco-structural therapies for hypertrophic cardiomyopathy. Clin Cardiol. 2024, 47:e24207. 10.1002\/clc.24207","journal-title":"Clin Cardiol"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1161\/JAHA.119.015473","article-title":"Contemporary insights into the genetics of hypertrophic cardiomyopathy: toward a new era in clinical testing?","volume":"9","author":"Mazzarotto F","year":"2020","unstructured":"Mazzarotto F, Olivotto I, Boschi B, Girolami F, Poggesi C, Barton PJ, Walsh R. Contemporary insights into the genetics of hypertrophic cardiomyopathy: toward a new era in clinical testing?. J Am Heart Assoc. 2020, 9:e015473. 10.1161\/JAHA.119.015473","journal-title":"J Am Heart Assoc"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.n71","article-title":"The PRISMA 2020 statement: an updated guideline for reporting systematic reviews","volume":"372","author":"Page MJ","year":"2021","unstructured":"Page MJ, McKenzie JE, Bossuyt PM, et al.. The PRISMA 2020 statement: an updated guideline for reporting systematic reviews. BMJ. 2021, 372:n71. 10.1136\/bmj.n71","journal-title":"BMJ"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1093\/ehjci\/jead200","article-title":"Gene-echocardiography: refining genotype-phenotype correlations in hypertrophic cardiomyopathy","volume":"25","author":"Zhou N","year":"2023","unstructured":"Zhou N, Weng H, Zhao W, et al.. Gene-echocardiography: refining genotype-phenotype correlations in hypertrophic cardiomyopathy. Eur Heart J Cardiovasc Imaging. 2023, 25:127-35. 10.1093\/ehjci\/jead200","journal-title":"Eur Heart J Cardiovasc Imaging"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1007\/s00330-020-07454-9","article-title":"Deep learning algorithm to improve hypertrophic cardiomyopathy mutation prediction using cardiac cine images","volume":"31","author":"Zhou H","year":"2021","unstructured":"Zhou H, Li L, Liu Z, et al.. Deep learning algorithm to improve hypertrophic cardiomyopathy mutation prediction using cardiac cine images. Eur Radiol. 2021, 31:3931-40. 10.1007\/s00330-020-07454-9","journal-title":"Eur Radiol"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1093\/ehjqcco\/qcac008","article-title":"Implications of structural right ventricular involvement in patients with hypertrophic cardiomyopathy","volume":"9","author":"Zhang Y","year":"2022","unstructured":"Zhang Y, Zhu Y, Zhang M, et al.. Implications of structural right ventricular involvement in patients with hypertrophic cardiomyopathy. Eur Heart J Qual Care Clin Outcomes. 2022, 9:34-41. 10.1093\/ehjqcco\/qcac008","journal-title":"Eur Heart J Qual Care Clin Outcomes"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1161\/JAHA.120.018236","article-title":"Variant spectrum of formin homology 2 domain-containing 3 gene in Chinese patients with hypertrophic cardiomyopathy","volume":"10","author":"Wu G","year":"2021","unstructured":"Wu G, Ruan J, Liu J, et al.. Variant spectrum of formin homology 2 domain-containing 3 gene in Chinese patients with hypertrophic cardiomyopathy. J Am Heart Assoc. 2021, 10:e018236. 10.1161\/JAHA.120.018236","journal-title":"J Am Heart Assoc"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1002\/ehf2.13914","article-title":"Hypokinetic hypertrophic cardiomyopathy: clinical phenotype, genetics, and prognosis","volume":"9","author":"Wasserstrum Y","year":"2022","unstructured":"Wasserstrum Y, Larra\u00f1aga-Moreira JM, Martinez-Veira C, et al.. Hypokinetic hypertrophic cardiomyopathy: clinical phenotype, genetics, and prognosis. ESC Heart Fail. 2022, 9:2301-12. 10.1002\/ehf2.13914","journal-title":"ESC Heart Fail"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1186\/s12872-020-01807-4","article-title":"Genetic determinants of clinical phenotype in hypertrophic cardiomyopathy","volume":"20","author":"Velicki L","year":"2020","unstructured":"Velicki L, Jakovljevic DG, Preveden A, et al.. Genetic determinants of clinical phenotype in hypertrophic cardiomyopathy. BMC Cardiovasc Disord. 2020, 20:516. 10.1186\/s12872-020-01807-4","journal-title":"BMC Cardiovasc Disord"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0267770","article-title":"Genomic findings of hypertrophic and dilated cardiomyopathy characterized in a Thai clinical genetics service","volume":"17","author":"Trachoo O","year":"2022","unstructured":"Trachoo O, Yingchoncharoen T, Ngernsritrakul T, et al.. Genomic findings of hypertrophic and dilated cardiomyopathy characterized in a Thai clinical genetics service. PLoS One. 2022, 17:e0267770. 10.1371\/journal.pone.0267770","journal-title":"PLoS One"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1093\/eurjpc\/zwac102","article-title":"Molecular genetics in 4408 cardiomyopathy probands and 3008 relatives in Norway: 17 years of genetic testing in a national laboratory","volume":"29","author":"Stava TT","year":"2022","unstructured":"Stava TT, Leren TP, Bogsrud MP. Molecular genetics in 4408 cardiomyopathy probands and 3008 relatives in Norway: 17 years of genetic testing in a national laboratory. Eur J Prev Cardiol. 2022, 29:1789-99. 10.1093\/eurjpc\/zwac102","journal-title":"Eur J Prev Cardiol"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.709419","article-title":"Targeted sequencing of 242 clinically important genes in the Russian population from the Ivanovo region","volume":"12","author":"Ramensky VE","year":"2021","unstructured":"Ramensky VE, Ershova AI, Zaicenoka M, et al.. Targeted sequencing of 242 clinically important genes in the Russian population from the Ivanovo region. Front Genet. 2021, 12:709419. 10.3389\/fgene.2021.709419","journal-title":"Front Genet"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1253\/circj.CJ-20-0027","article-title":"Lifelong clinical impact of the presence of sarcomere gene mutation in Japanese patients with hypertrophic cardiomyopathy","volume":"84","author":"Nakashima Y","year":"2020","unstructured":"Nakashima Y, Kubo T, Sugiura K, et al.. Lifelong clinical impact of the presence of sarcomere gene mutation in Japanese patients with hypertrophic cardiomyopathy. Circ J. 2020, 84:1846-53. 10.1253\/circj.CJ-20-0027","journal-title":"Circ J"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.3389\/fcvm.2021.669860","article-title":"Deep learning analysis of echocardiographic images to predict positive genotype in patients with hypertrophic cardiomyopathy","volume":"8","author":"Morita SX","year":"2021","unstructured":"Morita SX, Kusunose K, Haga A, et al.. Deep learning analysis of echocardiographic images to predict positive genotype in patients with hypertrophic cardiomyopathy. Front Cardiovasc Med. 2021, 8:669860. 10.3389\/fcvm.2021.669860","journal-title":"Front Cardiovasc Med"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1253\/circj.CJ-20-0826","article-title":"A validation study of the Mayo Clinic phenotype-based genetic test prediction score for Japanese patients with hypertrophic cardiomyopathy","volume":"85","author":"Moriki T","year":"2021","unstructured":"Moriki T, Kubo T, Sugiura K, et al.. A validation study of the Mayo Clinic phenotype-based genetic test prediction score for Japanese patients with hypertrophic cardiomyopathy. Circ J. 2021, 85:669-74. 10.1253\/circj.CJ-20-0826","journal-title":"Circ J"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.3389\/fcvm.2023.1205787","article-title":"Genetic landscape in Russian patients with familial left ventricular noncompaction","volume":"10","author":"Meshkov AN","year":"2023","unstructured":"Meshkov AN, Myasnikov RP, Kiseleva AV, et al.. Genetic landscape in Russian patients with familial left ventricular noncompaction. Front Cardiovasc Med. 2023, 10:1205787. 10.3389\/fcvm.2023.1205787","journal-title":"Front Cardiovasc Med"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2023.08.003","article-title":"The penetrance of rare variants in cardiomyopathy-associated genes: a cross-sectional approach to estimating penetrance for secondary findings","volume":"110","author":"McGurk KA","year":"2023","unstructured":"McGurk KA, Zhang X, Theotokis P, et al.. The penetrance of rare variants in cardiomyopathy-associated genes: a cross-sectional approach to estimating penetrance for secondary findings. Am J Hum Genet. 2023, 110:1482-95. 10.1016\/j.ajhg.2023.08.003","journal-title":"Am J Hum Genet"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.3390\/biom12101417","article-title":"Next-generation sequencing gene panels in inheritable cardiomyopathies and channelopathies: prevalence of pathogenic variants and variants of unknown significance in uncommon genes","volume":"12","author":"Mazzaccara C","year":"2022","unstructured":"Mazzaccara C, Lombardi R, Mirra B, et al.. Next-generation sequencing gene panels in inheritable cardiomyopathies and channelopathies: prevalence of pathogenic variants and variants of unknown significance in uncommon genes. Biomolecules. 2022, 12:10.3390\/biom12101417","journal-title":"Biomolecules"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGEN.120.003039","article-title":"Clinical utility of a phenotype-enhanced MYH7-specific variant classification framework in hypertrophic cardiomyopathy genetic testing","volume":"13","author":"Mattivi CL","year":"2020","unstructured":"Mattivi CL, Bos JM, Bagnall RD, et al.. Clinical utility of a phenotype-enhanced MYH7-specific variant classification framework in hypertrophic cardiomyopathy genetic testing. Circ Genom Precis Med. 2020, 13:453-9. 10.1161\/CIRCGEN.120.003039","journal-title":"Circ Genom Precis Med"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.3390\/jcm9061636","article-title":"Risk stratification in hypertrophic cardiomyopathy. Insights from genetic analysis and cardiopulmonary exercise testing","volume":"9","author":"Magr\u00ec D","year":"2020","unstructured":"Magr\u00ec D, Mastromarino V, Gallo G, et al.. Risk stratification in hypertrophic cardiomyopathy. Insights from genetic analysis and cardiopulmonary exercise testing. J Clin Med. 2020, 9:10.3390\/jcm9061636","journal-title":"J Clin Med"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2020.06.011","article-title":"Penetrance of hypertrophic cardiomyopathy in sarcomere protein mutation carriers","volume":"76","author":"Lorenzini M","year":"2020","unstructured":"Lorenzini M, Norrish G, Field E, et al.. Penetrance of hypertrophic cardiomyopathy in sarcomere protein mutation carriers. J Am Coll Cardiol. 2020, 76:550-9. 10.1016\/j.jacc.2020.06.011","journal-title":"J Am Coll Cardiol"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGEN.120.003062","article-title":"Associations between female sex, sarcomere variants, and clinical outcomes in hypertrophic cardiomyopathy","volume":"14","author":"Lakdawala NK","year":"2021","unstructured":"Lakdawala NK, Olivotto I, Day SM, et al.. Associations between female sex, sarcomere variants, and clinical outcomes in hypertrophic cardiomyopathy. Circ Genom Precis Med. 2021, 14:e003062. 10.1161\/CIRCGEN.120.003062","journal-title":"Circ Genom Precis Med"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1038\/s41525-021-00211-x","article-title":"Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent","volume":"6","author":"Lacaze P","year":"2021","unstructured":"Lacaze P, Sebra R, Riaz M, et al.. Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent. NPJ Genom Med. 2021, 6:51. 10.1038\/s41525-021-00211-x","journal-title":"NPJ Genom Med"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1111\/echo.15434","article-title":"Prognostic significance of left atrial strain in sarcomere gene variant carriers without hypertrophic cardiomyopathy","volume":"39","author":"Huurman R","year":"2022","unstructured":"Huurman R, Bowen DJ, Mutluer FO, et al.. Prognostic significance of left atrial strain in sarcomere gene variant carriers without hypertrophic cardiomyopathy. Echocardiography. 2022, 39:1209-18. 10.1111\/echo.15434","journal-title":"Echocardiography"},{"key":"ref30","doi-asserted-by":"publisher","DOI":"10.1093\/ehjci\/jeac099","article-title":"Contemporary family screening in hypertrophic cardiomyopathy: the role of cardiovascular magnetic resonance","volume":"23","author":"Huurman R","year":"2022","unstructured":"Huurman R, van der Velde N, Schinkel AF, et al.. Contemporary family screening in hypertrophic cardiomyopathy: the role of cardiovascular magnetic resonance. Eur Heart J Cardiovasc Imaging. 2022, 23:1144-54. 10.1093\/ehjci\/jeac099","journal-title":"Eur Heart J Cardiovasc Imaging"},{"key":"ref31","doi-asserted-by":"publisher","DOI":"10.1161\/JAHA.120.020227","article-title":"Myocardial perfusion defects in hypertrophic cardiomyopathy mutation carriers","volume":"10","author":"Hughes RK","year":"2021","unstructured":"Hughes RK, Camaioni C, Augusto JB, et al.. Myocardial perfusion defects in hypertrophic cardiomyopathy mutation carriers. J Am Heart Assoc. 2021, 10:e020227. 10.1161\/JAHA.120.020227","journal-title":"J Am Heart Assoc"},{"key":"ref32","doi-asserted-by":"publisher","DOI":"10.1161\/JAHA.122.028293","article-title":"SARC gene mutation is associated with myocardial fibrosis measured by histopathology and cardiac magnetic resonance in patients with hypertrophic cardiomyopathy","volume":"12","author":"Huang M","year":"2023","unstructured":"Huang M, Zhang J, Song C, et al.. SARC gene mutation is associated with myocardial fibrosis measured by histopathology and cardiac magnetic resonance in patients with hypertrophic cardiomyopathy. J Am Heart Assoc. 2023, 12:e028293. 10.1161\/JAHA.122.028293","journal-title":"J Am Heart Assoc"},{"key":"ref33","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGEN.120.003202","article-title":"Transcriptome sequencing of patients with hypertrophic cardiomyopathy reveals novel splice-altering variants in  MYBPC3","volume":"14","author":"Holliday M","year":"2021","unstructured":"Holliday M, Singer ES, Ross SB, et al.. Transcriptome sequencing of patients with hypertrophic cardiomyopathy reveals novel splice-altering variants in  MYBPC3. Circ Genom Precis Med. 2021, 14:e003202. 10.1161\/CIRCGEN.120.003202","journal-title":"Circ Genom Precis Med"},{"key":"ref34","doi-asserted-by":"publisher","DOI":"10.1002\/ehf2.12925","article-title":"ESC EORP cardiomyopathy registry: real-life practice of genetic counselling and testing in adult cardiomyopathy patients","volume":"7","author":"Heli\u00f6 T","year":"2020","unstructured":"Heli\u00f6 T, Elliott P, Koskenvuo JW, et al.. ESC EORP cardiomyopathy registry: real-life practice of genetic counselling and testing in adult cardiomyopathy patients. ESC Heart Fail. 2020, 7:3013-21. 10.1002\/ehf2.12925","journal-title":"ESC Heart Fail"},{"key":"ref35","doi-asserted-by":"publisher","DOI":"10.1186\/s12872-021-01927-5","article-title":"Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients","volume":"21","author":"Hathaway J","year":"2021","unstructured":"Hathaway J, Heli\u00f6 K, Saarinen I, et al.. Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients. BMC Cardiovasc Disord. 2021, 21:126. 10.1186\/s12872-021-01927-5","journal-title":"BMC Cardiovasc Disord"},{"key":"ref36","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCHEARTFAILURE.123.010970","article-title":"Genetic testing yield and clinical characteristics of hypertrophic cardiomyopathy in understudied ethnic groups: insights from a New Zealand National Registry","volume":"17","author":"Earle NJ","year":"2024","unstructured":"Earle NJ, Winbo A, Crawford J, et al.. Genetic testing yield and clinical characteristics of hypertrophic cardiomyopathy in understudied ethnic groups: insights from a New Zealand National Registry. Circ Heart Fail. 2024, 17:e010970. 10.1161\/CIRCHEARTFAILURE.123.010970","journal-title":"Circ Heart Fail"},{"key":"ref37","doi-asserted-by":"publisher","DOI":"10.1093\/ehjci\/jeab217","article-title":"Comparing echocardiographic characteristics in genotype positive-phenotype positive hypertrophic cardiomyopathy and hypertensive left ventricular hypertrophy","volume":"23","author":"de la Rosa A","year":"2022","unstructured":"de la Rosa A, Shah M, Shiota T, Siegel R, Rader F. Comparing echocardiographic characteristics in genotype positive-phenotype positive hypertrophic cardiomyopathy and hypertensive left ventricular hypertrophy. Eur Heart J Cardiovasc Imaging. 2022, 23:340-8. 10.1093\/ehjci\/jeab217","journal-title":"Eur Heart J Cardiovasc Imaging"},{"key":"ref38","doi-asserted-by":"publisher","DOI":"10.1136\/openhrt-2020-001560","article-title":"Sarcomere mutation negative hypertrophic cardiomyopathy is associated with ageing and obesity","volume":"8","author":"de Feria AE","year":"2021","unstructured":"de Feria AE, Kott AE, Becker JR. Sarcomere mutation negative hypertrophic cardiomyopathy is associated with ageing and obesity. Open Heart. 2021, 8:10.1136\/openhrt-2020-001560","journal-title":"Open Heart"},{"key":"ref39","doi-asserted-by":"publisher","DOI":"10.1016\/j.cjca.2021.07.014","article-title":"RBM20 is a candidate gene for hypertrophic cardiomyopathy","volume":"37","author":"Dai J","year":"2021","unstructured":"Dai J, Li Z, Huang W, et al.. RBM20 is a candidate gene for hypertrophic cardiomyopathy. Can J Cardiol. 2021, 37:1751-9. 10.1016\/j.cjca.2021.07.014","journal-title":"Can J Cardiol"},{"key":"ref40","doi-asserted-by":"publisher","DOI":"10.3390\/genes14112042","article-title":"Hypertrophic cardiomyopathy in underrepresented populations: clinical and genetic landscape based on a russian single-center cohort study","volume":"14","author":"Chumakova OS","year":"2023","unstructured":"Chumakova OS, Baklanova TN, Milovanova NV, Zateyshchikov DA. Hypertrophic cardiomyopathy in underrepresented populations: clinical and genetic landscape based on a russian single-center cohort study. Genes (Basel). 2023, 14:10.3390\/genes14112042","journal-title":"Genes (Basel)"},{"key":"ref41","doi-asserted-by":"publisher","DOI":"10.1080\/07853890.2023.2235564","article-title":"Deep learning-derived 12-lead electrocardiogram-based genotype prediction for hypertrophic cardiomyopathy: a pilot study","volume":"55","author":"Chen L","year":"2023","unstructured":"Chen L, Fu G, Jiang C. Deep learning-derived 12-lead electrocardiogram-based genotype prediction for hypertrophic cardiomyopathy: a pilot study. Ann Med. 2023, 55:2235564. 10.1080\/07853890.2023.2235564","journal-title":"Ann Med"},{"key":"ref42","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCHEARTFAILURE.120.007230","article-title":"Temporal trend of age at diagnosis in hypertrophic cardiomyopathy: an analysis of the International Sarcomeric Human Cardiomyopathy Registry","volume":"13","author":"Canepa M","year":"2020","unstructured":"Canepa M, Fumagalli C, Tini G, et al.. Temporal trend of age at diagnosis in hypertrophic cardiomyopathy: an analysis of the International Sarcomeric Human Cardiomyopathy Registry. Circ Heart Fail. 2020, 13:e007230. 10.1161\/CIRCHEARTFAILURE.120.007230","journal-title":"Circ Heart Fail"},{"key":"ref43","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjcard.2022.03.023","article-title":"Characteristics of patients with obstructive hypertrophic cardiomyopathy in real-world community-based cardiovascular practices","volume":"174","author":"Butzner M","year":"2022","unstructured":"Butzner M, Sarocco P, Maron MS, et al.. Characteristics of patients with obstructive hypertrophic cardiomyopathy in real-world community-based cardiovascular practices. Am J Cardiol. 2022, 174:120-5. 10.1016\/j.amjcard.2022.03.023","journal-title":"Am J Cardiol"},{"key":"ref44","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCHEARTFAILURE.120.007537","article-title":"Clinical profile and health disparities in a multiethnic cohort of patients with hypertrophic cardiomyopathy","volume":"14","author":"Butters A","year":"2021","unstructured":"Butters A, Semsarian CR, Bagnall RD, et al.. Clinical profile and health disparities in a multiethnic cohort of patients with hypertrophic cardiomyopathy. Circ Heart Fail. 2021, 14:e007537. 10.1161\/CIRCHEARTFAILURE.120.007537","journal-title":"Circ Heart Fail"},{"key":"ref45","doi-asserted-by":"publisher","DOI":"10.1016\/j.healun.2022.03.020","article-title":"Diagnostic yield of genetic testing in heart transplant recipients with prior cardiomyopathy","volume":"41","author":"Boen HM","year":"2022","unstructured":"Boen HM, Loeys BL, Alaerts M, et al.. Diagnostic yield of genetic testing in heart transplant recipients with prior cardiomyopathy. J Heart Lung Transplant. 2022, 41:1218-27. 10.1016\/j.healun.2022.03.020","journal-title":"J Heart Lung Transplant"},{"key":"ref46","doi-asserted-by":"publisher","DOI":"10.1161\/JAHA.120.019978","article-title":"Disease expression and outcomes in Black and White adults with hypertrophic cardiomyopathy","volume":"10","author":"Arabadjian ME","year":"2021","unstructured":"Arabadjian ME, Yu G, Sherrid MV, Dickson VV. Disease expression and outcomes in Black and White adults with hypertrophic cardiomyopathy. J Am Heart Assoc. 2021, 10:e019978. 10.1161\/JAHA.120.019978","journal-title":"J Am Heart Assoc"},{"key":"ref47","doi-asserted-by":"publisher","DOI":"10.3390\/genes13020320","article-title":"Genotype-phenotype correlation in hypertrophic cardiomyopathy: new variant p.Arg652Lys in MYH7","volume":"13","author":"Antoniutti G","year":"2022","unstructured":"Antoniutti G, Caimi-Martinez FG, \u00c1lvarez-Rubio J, et al.. Genotype-phenotype correlation in hypertrophic cardiomyopathy: new variant p.Arg652Lys in MYH7. Genes (Basel). 2022, 13:10.3390\/genes13020320","journal-title":"Genes (Basel)"},{"key":"ref48","doi-asserted-by":"publisher","DOI":"10.1007\/s00392-023-02310-4","article-title":"Improving sudden cardiac death risk stratification in hypertrophic cardiomyopathy using established clinical variables and genetic information","volume":"113","author":"Amr A","year":"2024","unstructured":"Amr A, Koelemen J, Reich C, et al.. Improving sudden cardiac death risk stratification in hypertrophic cardiomyopathy using established clinical variables and genetic information. Clin Res Cardiol. 2024, 113:728-36. 10.1007\/s00392-023-02310-4","journal-title":"Clin Res Cardiol"},{"key":"ref49","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehad372","article-title":"Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy","volume":"44","author":"Allouba M","year":"2023","unstructured":"Allouba M, Walsh R, Afify A, et al.. Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy. Eur Heart J. 2023, 44:5146-58. 10.1093\/eurheartj\/ehad372","journal-title":"Eur Heart J"},{"key":"ref50","doi-asserted-by":"publisher","DOI":"10.3390\/jcdd11020041","article-title":"Phospholamban p.Leu39* cardiomyopathy compared with other sarcomeric cardiomyopathies: age-matched patient cohorts and literature review","volume":"11","author":"Afana AS","year":"2024","unstructured":"Afana AS, Vasiliu L, Sasc\u0103u R, et al.. Phospholamban p.Leu39* cardiomyopathy compared with other sarcomeric cardiomyopathies: age-matched patient cohorts and literature review. J Cardiovasc Dev Dis. 2024, 11:10.3390\/jcdd11020041","journal-title":"J Cardiovasc Dev Dis"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/275527-impact-of-genetic-testing-on-the-diagnosis-management-and-prognosis-of-hypertrophic-cardiomyopathy-a-systematic-review","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,7]],"date-time":"2024-10-07T12:48:32Z","timestamp":1728305312000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/275527-impact-of-genetic-testing-on-the-diagnosis-management-and-prognosis-of-hypertrophic-cardiomyopathy-a-systematic-review"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,7]]},"references-count":50,"URL":"https:\/\/doi.org\/10.7759\/cureus.70993","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2024,10,7]]}}}