Neonatal hypertrophic cardiomyopathy with dyspnoea as the first symptom: a case report

Autor: Xiaoxia Li, Shu-Jun Hong, Hui Hong, Zhi-Qun Zhang, Jing Li

Publikováno v: Frontiers in Pediatrics, Vol 11 (2023)

Neonatal hypertrophic cardiomyopathy (HCM) is an idiopathic disease characterised by myocardial hypertrophy with normal or small ventricular chambers, a systolic hyperdynamic state and diastolic dysfunction. The etiology, pathogenesis and clinical ma

Externí odkaz: https://doaj.org/article/0dffcd0bb2a0439c80e97b505bb86409

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Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy

Autor: Bwee Tien Poll-The, Gudrun Nürnberg, Edward J. Bradley, Marian A. J. Weterman, Peter Nürnberg, Marit B. de Wissel, Yolande E M Thomasse, Peter G. Barth, Karin Y. van Spaendonck-Zwarts, Leonardo Salviati, Zohal Qahar, Frank Baas, Lambertus P. van den Heuvel, Eleonora Aronica, J. Peter van Tintelen, Oebele F. Brouwer, Corrado Angelini, Ad P. C. M. Backx

Publikováno v: Brain, 136, 282-293. Oxford University Press
Brain, 136, Pt 1, pp. 282-93
Brain, 136(1), 282-293. Oxford University Press
Brain, 136, 282-93

Item does not contain fulltext A cardioskeletal myopathy with onset and death in infancy, morphological features of muscle type I hypotrophy with myofibrillar disorganization and dilated cardiomyopathy was previously reported in three Dutch families.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cd6a4d58a7b25d267ac40dc6a0e99f6
https://pubmed.ncbi.nlm.nih.gov/23365102

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