CARDIOMYOPATHY IN CHILDREN AND ADOLESCENTS. CASE REPORT
DOI:
https://doi.org/10.52340/jecm.2024.06.11Keywords:
Cardiomyopathy, sudden death, children, PreventionAbstract
Dilated cardiomyopathy (DCM) is a common cause of heart failure (HF) and is the most common diagnosis in patients who undergo cardiac transplantation. DCM is characterized by dilatation and systolic dysfunction of one or both ventricles. Diagnosing the rare patient with cardiomyopathy in a child in the acute care setting is essential, but frequently such patients present with symptoms more commonly associated with other illness or disease. Case - The patient - 17-year-old B.G. - came to the emergency department with a complaint of epigastric area, vomiting, which was associated with eating pizza. It should be noted that 2 days before, the patient was hospitalized with the same complaint. Routine tests were performed. It was considered as food intoxication and discharged. In our clinic he had - HR-178'; T/A-107/70 mmHg; RR-27'; T-36.7 C; SatO2-96% weight-55kg.; Troponin I-9 ng/l.; ALT-65 U/L; AST-86 U/L. Tachycardia was the reason of referral to cardiologist. An echocardiogram demonstrated a severely dilated left ventricle, severely depressed left ventricular function, mitral and aortic regurgitation, he was noted to have a shortening fraction EF-16%. Patient was diagnosed with dilated cardiomyopathy and referred to specialized cardiological department. Unfortunately, he died before implantation of cardiac pacemaker (after 2 months). Early and accurate diagnosis of a child with heart failure can be a difficult task. There are no definitive tests for myocarditis or cardiomyopathy. The clinician must be alert for the possibility of heart failure in any patient, and should start with a thorough physical examination, paying special attention to presenting vital signs. The patient's heart rate may be a clue of underlying cardiac disease. Tachycardia is commonly seen and usually relates to fever, fear, or a pulmonary problem. However, tachycardia may also be seen in a failing heart with arrhythmias or decrease in ventricular contractility, causing poor cardiac output. Bradycardia is more rarely seen in the acutely ill patient and merits further evaluation for cardiac dysfunction. Patients with heart failure may present with a normal cardiovascular examination, but a careful survey can reveal important markers of cardiac disease. Abdominal pain can be a presenting symptom in patients with heart failure. Conclusion. Ultimately, diagnosing heart failure in the pediatric population begins with maintaining a high index of suspicion. Vital signs should be reviewed and potential diagnoses broadly considered. Additionally, physical exam should be thorough and directed. Only after the diagnosis is considered can additional testing help corroborate your diagnosis and lead the appropriate treatment. It is often difficult to make the diagnosis of heart failure if failure is not consciously considered as a possibility. Armed with knowledge and clinical suspicion, the astute physician will make this diagnosis hard to miss.
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References
Torbey AFM, Couto RGT, Grippa A, et al. Cardiomyopathy in Children and Adolescents in the Era of Precision Medicine. Arq Bras Cardiol. 2024 Sep;121(9):e20230154. Portuguese, English. doi: 10.36660/abc.20230154. PMID: 39442130.doi: 10.1093/eurheartj/ehae109.
Kaski JP, Norrish G, Gimeno Blanes JR, et al; EORP Paediatric Cardiomyopathy Registry Investigators. Cardiomyopathies in children and adolescents: aetiology, management, and outcomes in the European Society of Cardiology EURObservational Research Programme Cardiomyopathy and Myocarditis Registry. Eur Heart J. 2024 Apr 21;45(16):1443-1454. doi: 10.1093/eurheartj/ehae109. PMID: 38427064; PMCID: PMC11448693.
Ware SM, Wilkinson JD, Tariq M, et al; Pediatric Cardiomyopathy Registry Study Group. Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study. J Am Heart Assoc. 2021 May 4;10(9):e017731. doi: 10.1161/JAHA.120.017731. Epub 2021 Apr 28. Erratum in: J Am Heart Assoc. 2021 Jun;10(11):e020840. doi: 10.1161/JAHA.121.020840. PMID: 33906374; PMCID: PMC8200745.
Lee TM, Hsu DT, Kantor P, Towbin JA, et al. Pediatric Cardiomyopathies. Circ Res. 2017 Sep 15;121(7):855-873. doi: 10.1161/CIRCRESAHA.116.309386. PMID: 28912187; PMCID: PMC5657298.
Lipshultz SE, Law YM, Asante-Korang A, et al. Cardiomyopathy in Children: Classification and Diagnosis: A Scientific Statement From the American Heart Association. Circulation. 2019 Jul 2;140(1):e9-e68. doi: 10.1161/CIR.0000000000000682. Epub 2019 May 28. PMID: 31132865.
Qiqing Sun, Jun Guo, Yaodong Zhang, Ruili Zheng, Kun He, Yuanying Chen, Chanjuan Hao, Zhenhua Xie, Fangjie Wang - Cardiomyopathy in children: a single-centre, retrospective study of genetic and clinical characteristics: BMJ Paediatrics Open 2024;8:e002024.
Carmel Bogle, MD, Steven D. Colan, et al. Treatment Strategies for Cardiomyopathy in Children: A Scientific Statement From the American Heart Association.Circulation.Volume 148, Number 2023. https://www.ahajournals.org/doi/10.1161/CIR.0000000000001151
Assessment of cardiomyophathy. As 24 Jan 2024sessment of cardiomyopathy
https://bestpractice.bmj.com/topics/en-gb/371
Leslie T Cooper, Jr, MD Definition and classification of the cardiomyopathies 2024 oct https://sso.uptodate.com/contents/definition-and-classification-of-the-cardiomyopathies
Brownrigg JR, Leo V, Rose J, Low E, Richards S, Carr-White G, Elliott PM. Epidemiology of cardiomyopathies and incident heart failure in a population-based cohort study. Heart. 2022 Aug 11;108(17):1383-1391. doi: 10.1136/heartjnl-2021-320181. PMID: 34969871.
Kübler J, Burgstahler C, Brendel JM, et al. Cardiac MRI findings to differentiate athlete's heart from hypertrophic (HCM), arrhythmogenic right ventricular (ARVC) and dilated (DCM) cardiomyopathy. Int J Cardiovasc Imaging. 2021 Aug;37(8):2501-2515. doi: 10.1007/s10554-021-02280-6. Epub 2021 May 21. PMID: 34019206; PMCID: PMC8302518.
Zhang M, Zhang Y, Cao X. A new perspective on atrial tachycardia-induced cardiomyopathy: The misdiagnosis of epigastric pain in an 11-year-old girl. Radiol Case Rep. 2024 Sep 27;19(12):6538-6541. doi: 10.1016/j.radcr.2024.09.086. PMID: 39391032; PMCID: PMC11465059.
Cheng P, Wang G, Song Y, An Y. Novel association of LBX1 mutation with tetralogy of Fallot and hypertrophic cardiomyopathy: implications for cardiac development. Sci Rep. 2024 Oct 30;14(1):26179. doi: 10.1038/s41598-024-77187-y. PMID: 39478039; PMCID: PMC11525995.
Hunt SA, Baker DW, Chin MH, Cinquegrani MP, et al. ACC/AHA guidelines for the evaluation and management of chronic heart failure in the adult: executive summary: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Committee to Revise the 1995 Guidelines for the Evaluation and Management of Heart Failure) Circulation. 2001;104:2996–3007. doi: 10.1161/hc4901.102568
Lipshultz SE, Law YM, Asante-Korang A, Austin ED, Dipchand AI, Everitt MD, Hsu DT, Lin KY, Price JF, Wilkinson JD, et al; Cardiomyopathy in children: classification and diagnosis: a scientific statement from the American Heart Association. on behalf of the American Heart Association Council on Cardiovascular Disease in the Young; Council on Clinical Cardiology; and Council on Genomic and Precision Medicine Circulation. 2019;140:e9–e68. doi: 10.1161/CIR.0000000000000682
Maddox TM, Januzzi JL, Allen LA, et al. 2021 Update to the 2017 ACC expert consensus decision pathway for optimization of heart failure treatment: answers to 10 pivotal issues about heart failure with reduced ejection fraction: a report of the American College of Cardiology Solution Set Oversight Committee. J Am Coll Cardiol. 2021;77:772–810. doi: 10.1016/j.jacc.2020.11.022
Nugent AW, Daubeney PE, Chondros P, Carlin JB, Cheung M, Wilkinson LC, Davis AM, Kahler SG, Chow CW, Wilkinson JL, Weintraub RG; The epidemiology of childhood cardiomyopathy in Australia. National Australian Childhood Cardiomyopathy Study N Engl J Med. 2003;348:1639–1646. doi: 10.1056/NEJMoa021737
Andrews RE, Fenton MJ, Ridout DA, Burch M; New-onset heart failure due to heart muscle disease in childhood: a prospective study in the United Kingdom and Ireland. British Congenital Cardiac Association. Circulation. 2008;117:79–84. doi: 10.1161/CIRCULATIONAHA.106.671735
Arola A, Jokinen E, Ruuskanen O, Saraste M, Pesonen E, Kuusela AL, Tikanoja T, Paavilainen T, Simell O. Epidemiology of idiopathic cardiomyopathies in children and adolescents: a nationwide study in Finland. Am J Epidemiol. 1997;146:385–393.
Sliwa K, Hilfiker-Kleiner D, Petrie MC, Mebazaa A, et al; Heart Failure Association of the European Society of Cardiology Working Group on Peripartum Cardiomyopathy. Current state of knowledge on aetiology, diagnosis, management, and therapy of peripartum cardiomyopathy: a position statement from the Heart Failure Association of the European Society of Cardiology Working Group on peripartum cardiomyopathy. Eur J Heart Fail. 2010 Aug;12(8):767-78. doi: 10.1093/eurjhf/hfq120. PMID: 20675664.