Kematian Mendadak Akibat Kardiomiopati Hipertrofi Pada Dewasa Muda
DOI:
https://doi.org/10.36408/mhjcm.v7i2.522Keywords:
Kematian mendadak, kardiomiopati hipertrofi, dewasa muda, sarkomerAbstract
Latar Belakang : Kematian mendadak merupakan kasus yang paling sering terjadi dan dapat ditemukan dalam berbagai macam kondisi. Penyebab kematian mendadak terbanyak adalah sistem kardiovaskular dan salah satu kelainan yang jarang terjadi adalah kardiomiopati hipertrofi. Kardiomiopati hipertrofi merupakan kelainan jantung yang ditandai dengan hipertrofi miokardial akibat mutasi sarkomer dengan angka kejadian 1 dari 500 orang dewasa. Temuan utama pada kardiomiopati hipertrofi antara lain adanya hipertofi ventrikel dan atau septum interventrikel, kerusakan miosit dan peningkatan fibrosis miokardium. Terdapat variasi manifestasi klinis pada Kardiomiopati hipertrofi, dari asimptomatik hingga mengakibatkan kematian mendadak akibat gagal jantung. Tujuan laporan kasus ini adalah mengetahui diagnosis kematian akibat kardiomiopati hipertrofi pada dewasa muda.
Kasus : Seorang laki-laki usia 18 tahun ditemukan meninggal di kamar kostannya dibawa ke kamar jenazah RSUP dr. Kariadi Semarang untuk diotopsi. Pemeriksaan luar tidak ditemukan tanda-tanda kekerasan. Pemeriksaan dalam didapatkan adanya jendalan darah dalam ventrikel, hipertrofi ventrikel kiri, penebalan pada katub jantung, pengerasan pada otot jantung dan penggantung katub serta tanda asfiksia. Pemeriksaan histopatologi menunjukkan kardiomiopati hipertrofi.
Pembahasan : Patogenesis kardiomiopati hipertrofi dapat menyebabkan asfiksia yaitu terjadinya mutasi intrasarkomer yang meningkatkan peningkatan sensitivitas dan produksi Calsium yang mengakibatkan peningkatan kontraksi miokardium sehingga menyebabkan hipertrofi ventrikel kiri. Selain itu juga terjadi peningkatan sintesis kolagen yang mengakibatkan terjadinya fibrosis miokard yang menyebabkan hipertrofi ventrikel kiri. Terjadinya hipertrofi ventrikel kiri jangka panjang akan menyebabkan kondisi gagal jantung yang dapat mengakibatkan asfiksia.
Simpulan : Kematian mendadak akibat kardiomiopati hipertrofi merupakan hal yang jarang. Oleh karena itu dibutuhkan otopsi yang teliti dan pemeriksaan histopatologi untuk mendiagnosis dengan pasti.
Kata Kunci : Kematian mendadak, kardiomiopati hipertrofi, dewasa muda, sarkomer
Background : Sudden death is the most common case and can be found in a variety of conditions. The most common cause of death is the cardiovascular system and a rare one disorders is hypertrophic cardiomyopathy. Hypertrophy cardiomyopathy is a heart disorder characterized by myocardial hypertrophy due to sarcomere mutations with an incidence of 1 in 500 adults. The main findings in hypertrophic cardiomyopathy include the presence of ventricular hypertrophy and / or interventricular septum, myocyte damage and increased myocardial fibrosis. There are variations in clinical manifestations in hypertrophic cardiomyopathy, from asymptomatic to sudden death due to heart failure. The purpose of this case report is to know the diagnosis of sudden death due to hypertrophic cardiomyopathy in young adults
Case : A 18-year-old man was found dead in his boarding room. On the external examination there were no signs of violence. On the internal examination in the presence of blood in the ventricles, left ventricular hypertrophy, thickening of the entire heart valve, hardening of the heart muscle and hanging valves and signs of asphyxia. Histopathological examination showed hypertrophic cardiomyopathy.
Discussion : The pathogenesis of hypertrophic cardiomyopathy can cause asphyxia is the occurrence of intrasarcomere mutations that increase the sensitivity and production of calcium which results in increased contraction of the myocardium causing left ventricular hypertrophy. In addition there is also an increase in collagen synthesis which results in the occurrence of myocardial fibrosis which causes left ventricular hypertrophy. The occurrence of long-term left ventricular hypertrophy will cause a condition of heart failure which can lead to asphyxia.
Conclusion : Sudden death due to hypertrophic cardiomyopathy is rare one. Therefore a careful autopsy is needed and histopathological examination is needed to get definitive diagnose.
Keywords : Sudden death, hypertrophic cardiomyopathy, young adults, sarcomere
Downloads
References
2. Albakri A. Hypertrophic cardiomyopathy: A review of literature on clinical status and meta-analysis of diagnosis and clinical management methods. Clinical and Medical Investigations 2018; 3(2): 1-16.
3. Bittencourt MI et al. Sudden death in hypertrophic cardiomyopathy. International Journal of Cardiovascular Sciences 2016;29(6):504-511.
4. Jacobs C. Hypertrophic cardiomyopathy in adults: An overview. Journal of the American Association of Nurse Practitioners 2014; 26: 465–470
5. Christiaans I et al. Manifest disease, risk factors for sudden cardiac death and cardiac events in a large nationwide cohort of predicatively tested hypertrophic cardiomyopathy mutation carriers: Determining the best cardiological screening strategy. European Heart Journal 2011; 32 : 1161–1170.
6. Pantazis A, Vischer AS, Tome MCP, Castelletti S. Diagnosis and management of hypertrophic cardiomyopathy. Echo Research and Practice 2015; 10: 45-53.
7. Rodrigues CR, Fernandes AR. Genetics of hypertrophic cardiomyopathy: advances and pitfalls in molecular diagnosis and therapy. The Application of Clinical Genetics 2014;7:195–208.
8. Gersh BJ, Maron BJ, Bonow RO, Dearani JA, Fifer MA, Link MS, et al. 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. J Am Coll Cardiol. 2011;58(25):2703-38.
9. Kacem S, Cheniti G. Genetic testing in management of hypertrophic cardiomyopathy fifth in series. European Journal of Cardiology Practice. 2015;13:26.
10. Melacini P et al. Clinicopathiology profiles of progressive heart failure in hypertrophic cardiomyopathy. European Heart Journal 2010; 21: 2111–2123.
11. Teekakirikul P, Kelly MA, Rehm HL, Lakdawala NK, Funke BH. Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era. J Mol Diagn. 2013;15:158–170.
12. Dupuis LJ, Lumens J, Arts T, Delhaas T. Mechano-chemical interactions in cardiac sarcomere contraction: a computational modeling study. PLOS Computational Biology 2016;12(10):1–20.
13. Solaro RJ. Sarcomere control mechanisms and the dynamics of the cardiac cycle. J Biomed Biotechnol 2010: 1-8.
14. Argulian E, Sherrid MV, Messerli FH. Misconceptions and facts about hypertrophic cardiomyopathy. The American Journal of Medicine 2016; 129(2): 148-152.
15. Brouwer WP, Van Dijk SJ, Steinen GJ, Van Rossum AC, Van der Velden J, Germans T. The development of familial hypertrophic cardiomyopathy: From mutation to bedside. European Journal of Clinical Investigation 2011; 41: 568–578.
16. Semsarian C, Ingles J, Maron MS, Maron BJ. New perspectives on the prevalence of hypertrophic cardiomyopathy. J Am Coll Cardiol. 2015;65(12):1249-1254.
17. Saukko P, Knight B. Knight’s Forensic Pathology 4th ed. HodderArnold, USA; 2016.
18. Kumar V, Abas AK, Aster JC. Robbins Basic Pathology 9th edition. London : Elsevier; 2011.
Additional Files
Published
How to Cite
Issue
Section
Citation Check
License
Copyright (c) 2020 Medica Hospitalia : Journal of Clinical Medicine
This work is licensed under a Creative Commons Attribution-ShareAlike 4.0 International License.
Copyrights Notice
Copyrights:
Researchers publishing manuscrips at Medica Hospitalis: Journal of Clinical Medicine agree with regulations as follow:
Copyrights of each article belong to researchers, and it is likewise the patent rights
Researchers admit that Medica Hospitalia: Journal of Clinical Medicine has the right of first publication
Researchers may submit manuscripts separately, manage non exclusive distribution of published manuscripts into other versions (such as: being sent to researchers’ institutional repository, publication in the books, etc), admitting that manuscripts have been firstly published at Medica Hospitalia: Journal of Clinical Medicine
License:
Medica Hospitalia: Journal of Clinical Medicine is disseminated based on provisions of Creative Common Attribution-Share Alike 4.0 Internasional It allows individuals to duplicate and disseminate manuscripts in any formats, to alter, compose and make derivatives of manuscripts for any purpose. You are not allowed to use manuscripts for commercial purposes. You should properly acknowledge, reference links, and state that alterations have been made. You can do so in proper ways, but it does not hint that the licensors support you or your usage.
