Academic Journal
Clinical features, imaging characteristics, and genetic profile of hypertrophic cardiomyopathy patients in India.
| Τίτλος: | Clinical features, imaging characteristics, and genetic profile of hypertrophic cardiomyopathy patients in India. |
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| Συγγραφείς: | Gupta MD; Department of Cardiology, Govind Ballabh Pant Institute of Post Graduate Medical Education and Research, Delhi, India. Electronic address: drmohitgupta@yahoo.com., Kumar B; Department of Cardiology, Govind Ballabh Pant Institute of Post Graduate Medical Education and Research, Delhi, India., Kunal S; Department of Cardiology, ESIC Medical College and Hospital, Faridabad, Haryana, India., Sharma V; NMC Genetics India Pvt Ltd, Gurugram, Haryana, India., Mp G; Department of Cardiology, Govind Ballabh Pant Institute of Post Graduate Medical Education and Research, Delhi, India., Bansal A; Department of Cardiology, Govind Ballabh Pant Institute of Post Graduate Medical Education and Research, Delhi, India., Batra V; Department of Cardiology, Govind Ballabh Pant Institute of Post Graduate Medical Education and Research, Delhi, India., Goyal D; Department of Cardiology, Govind Ballabh Pant Institute of Post Graduate Medical Education and Research, Delhi, India., Mahajan B; Department of Biochemistry, Govind Ballabh Pant Institute of Post Graduate Medical Education and Research, Delhi, India., Gupta P; Department of Radiology, Govind Ballabh Pant Institute of Post Graduate Medical Education and Research, Delhi, India., Kadyan S; Department of Radiology, Govind Ballabh Pant Institute of Post Graduate Medical Education and Research, Delhi, India., Bansal K; Department of Radiology, Govind Ballabh Pant Institute of Post Graduate Medical Education and Research, Delhi, India., Narang P; Department of Radiology, Govind Ballabh Pant Institute of Post Graduate Medical Education and Research, Delhi, India., Yadav R; Department of Cardiology, AIIMS, New Delhi, India., Naik N; Department of Cardiology, AIIMS, New Delhi, India., Yusuf J; Department of Cardiology, Govind Ballabh Pant Institute of Post Graduate Medical Education and Research, Delhi, India. |
| Πηγή: | Indian heart journal [Indian Heart J] 2025 Nov-Dec; Vol. 77 (6), pp. 416-423. Date of Electronic Publication: 2025 Jul 15. |
| Τύπος έκδοσης: | Journal Article |
| Γλώσσα: | English |
| Στοιχεία περιοδικού: | Publisher: Elsevier Country of Publication: India NLM ID: 0374675 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2213-3763 (Electronic) Linking ISSN: 00194832 NLM ISO Abbreviation: Indian Heart J Subsets: MEDLINE |
| Imprint Name(s): | Publication: 2012- : Amsterdam : Elsevier Original Publication: Calcutta : Cardiological Society of India |
| Ιατρικοί όροι (MeSH): | Magnetic Resonance Imaging, Cine*/methods , Cardiomyopathy, Hypertrophic*/genetics , Cardiomyopathy, Hypertrophic*/epidemiology , Cardiomyopathy, Hypertrophic*/diagnosis , Genetic Testing*/methods , DNA*/genetics , Mutation* , Genetic Profile*, India/epidemiology ; Cardiac Myosins/genetics ; Humans ; Male ; Female ; Middle Aged ; Echocardiography ; Phenotype ; Genotype ; Adult ; Electrocardiography, Ambulatory ; Retrospective Studies |
| Περίληψη: | Background: Hypertrophic cardiomyopathy (HCM) is an autosomal dominant genetic disorder characterized by left ventricular hypertrophy and variable clinical manifestations, including asymptomatic states and sudden cardiac death (SCD). Data on its phenotype and genotype in the Indian population remain limited. Methods: We studied 113 patients diagnosed with HCM. All underwent clinical assessment, 24-h Holter monitoring, echocardiography, and cardiac MRI. Genetic testing was performed in 80 patients. Clinical and imaging features were compared between genotype-positive and genotype-negative groups. Results: The mean age was 47 ± 10.8 years, with 82.6 % being males. Dyspnoea and chest pain were the most frequent symptoms. Obstructive HCM was seen in 70 (61.9 %) patients. Cardiac MRI showed late gadolinium enhancement >15 % in 13 (23.2 %) and apical aneurysms in 2 (3.5 %). Genetic mutations were detected in 40 (50 %) patients, with MYBPC3 (33 %) and MYH7 (26.8 %) being most common. Genotype-positive individuals more frequently had chest pain, a family history of SCD, and more severe hypertrophy. Conclusion: In this Indian HCM cohort, the condition predominantly affected males. Genotype-positive patients exhibited more severe hypertrophy and adverse clinical profiles, underscoring the importance of genetic screening in risk stratification. (Copyright © 2025 Cardiological Society of India. Published by Elsevier, a division of RELX India, Pvt. Ltd. All rights reserved.) |
| Competing Interests: | Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. |
| References: | J Am Coll Cardiol. 2003 Sep 3;42(5):873-9. (PMID: 12957435) Sci Rep. 2021 Jun 23;11(1):13163. (PMID: 34162896) Heart. 2019 Dec;105(24):1892-1897. (PMID: 31383719) JACC Heart Fail. 2018 May;6(5):353-363. (PMID: 29655822) J Am Coll Cardiol. 2022 Feb 1;79(4):372-389. (PMID: 35086660) N Engl J Med. 2018 Aug 16;379(7):655-668. (PMID: 30110588) J Am Coll Cardiol. 2009 Jul 14;54(3):220-8. (PMID: 19589434) Circulation. 2018 Oct 2;138(14):1387-1398. (PMID: 30297972) Circulation. 2011 Dec 13;124(24):e783-831. (PMID: 22068434) Circulation. 2008 Oct 7;118(15):1541-9. (PMID: 18809796) J Am Soc Echocardiogr. 2019 Jan;32(1):1-64. (PMID: 30282592) J Am Heart Assoc. 2014 Jun 25;3(3):e001002. (PMID: 24965028) Circ Res. 2017 Sep 15;121(7):749-770. (PMID: 28912181) J Am Coll Cardiol. 2000 Dec;36(7):2212-8. (PMID: 11127463) Indian Heart J. 2017 Nov - Dec;69(6):742-750. (PMID: 29174252) J Am Coll Cardiol. 2012 Aug 21;60(8):705-15. (PMID: 22796258) Curr Opin Cardiol. 2022 Jan 1;37(1):15-21. (PMID: 34636345) Genet Med. 2018 Sep;20(9):899-909. (PMID: 29904160) Indian J Med Res. 2023 Aug;158(2):119-135. (PMID: 37787257) Circ Heart Fail. 2012 Jul 1;5(4):535-46. (PMID: 22811549) Eur Heart J. 2014 Aug 7;35(30):2010-20. (PMID: 24126876) Circulation. 2020 Dec 22;142(25):e533-e557. (PMID: 33215938) |
| Contributed Indexing: | Keywords: Genetics; Hypertrophic cardiomyopathy; Imaging; Risk stratification; Sudden cardiac death |
| Substance Nomenclature: | 9007-49-2 (DNA) EC 3.6.1.- (Cardiac Myosins) |
| Entry Date(s): | Date Created: 20250717 Date Completed: 20251222 Latest Revision: 20260115 |
| Update Code: | 20260130 |
| PubMed Central ID: | PMC12793908 |
| DOI: | 10.1016/j.ihj.2025.07.004 |
| PMID: | 40675549 |
| Βάση Δεδομένων: | MEDLINE |
| ISSN: | 2213-3763 |
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| DOI: | 10.1016/j.ihj.2025.07.004 |