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Mitochondrial Cardiomyopathy Presenting as Dilated Phase of Hypertrophic Cardiomyopathy Diagnosed with Histological and Genetic Analyses.

ABSTRACT: We report a case with 46-year-old man diagnosed with mitochondrial cardiomyopathy in the dilated phase of hypertrophic cardiomyopathy. Since cardiac magnetic resonance imaging, beta-methyl-p-¹²³I-iodophenyl-pentadecanoic myocardial scintigraphy, and positron emission tomography/computed tomography revealed no remarkable findings, we performed electron microscopic examination, which aided in diagnosing mitochondrial cardiomyopathy. Muscle biopsy was also compatible with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes and DNA analysis also concluded it. Since muscle biopsy is less invasive for patients compared to endomyocardial biopsy, cardiologists need to consider it. The diagnosis of mitochondrial cardiomyopathy is helpful because it is a genetic condition and also for consideration of device therapy, as well as management for acute crisis.

SUBMITTER: Kuno T

PROVIDER: S-EPMC5460387 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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Mitochondrial Cardiomyopathy Presenting as Dilated Phase of Hypertrophic Cardiomyopathy Diagnosed with Histological and Genetic Analyses.

Kuno Toshiki T Imaeda Syohei S Asakawa Yohei Y Nakamura Hiroshi H Takemura Genzou G Asahara Daisuke D Kanamori Akira A Kabutoya Tomoyuki T Numasawa Yohei Y

Case reports in cardiology 20170523

We report a case with 46-year-old man diagnosed with mitochondrial cardiomyopathy in the dilated phase of hypertrophic cardiomyopathy. Since cardiac magnetic resonance imaging, beta-methyl-p-<sup>123</sup>I-iodophenyl-pentadecanoic myocardial scintigraphy, and positron emission tomography/computed tomography revealed no remarkable findings, we performed electron microscopic examination, which aided in diagnosing mitochondrial cardiomyopathy. Muscle biopsy was also compatible with mitochondrial e ...[more]

PMID: 28620551

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Project description:Acute myocarditis is an inflammatory disease of the myocardium, and it can present as severe heart failure in children. Differential diagnosis with genetic cardiomyopathy can be difficult. The objective of this study is to identify patterns of clinical presentation and to assess invasive and non-invasive measures to differentiate patients with acute myocarditis from patients with dilated genetic cardiomyopathy. We performed a retrospective descriptive study of all paediatric patients (0-16 years old) that presented with new-onset heart failure with left ventricle ejection fraction < 35% in whom we performed an endomyocardial biopsy (EMB) during the period from April 2007 to December 2020. The patients were classified into two groups: Group 1 included 18 patients with myocarditis. Group 2 included 9 patients with genetic cardiomyopathy. Findings favouring a diagnosis of myocarditis included a fulminant or acute presentation (77.8% vs 33.3%, p = 0.01), higher degree of cardiac enzyme elevation (p = 0.011), lower left ventricular dimension z-score (2.2 vs 5.4, p = 0.03) increase of ventricular wall thickness (88.8% vs 33.3%, p = 0.03) and oedema in the EMB. Seven (77.8%) patients with genetic cardiomyopathy had inflammation in the endomyocardial biopsy fulfilling the diagnostic criteria of inflammatory cardiomyopathy.Conclusion: Differentiating patients with a myocarditis from those with genetic cardiomyopathy can be challenging, even performing an EMB. Some patients with genetic cardiomyopathy fulfil the diagnostic criteria of inflammatory cardiomyopathy. Using invasive and non-invasive measures may be useful to develop a predictive model to differentiate myocarditis from genetic cardiomyopathy. What is Known: • Acute myocarditis could present with cardiogenic shock in paediatric patients. • Parvovirus B19 is the main cause of myocarditis in this population. What is New: • Current diagnostic criteria for myocarditis have limited use in paediatric patients presenting with new-onset heart failure. • Some patients with a genetic cardiomyopathy and a new-onset heart failure fulfill the diagnostic criteria of inflammatory cardiomyopathy.

Dataset Information

Mitochondrial Cardiomyopathy Presenting as Dilated Phase of Hypertrophic Cardiomyopathy Diagnosed with Histological and Genetic Analyses.

Publications

Mitochondrial Cardiomyopathy Presenting as Dilated Phase of Hypertrophic Cardiomyopathy Diagnosed with Histological and Genetic Analyses.

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