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CC BY-NC-ND 4.0 · Thorac Cardiovasc Surg Rep 2021; 10(01): e12-e14
DOI: 10.1055/s-0040-1721038
Case Report: Cardiac

A Rare Case of Severe Dilated Cardiomyopathy in Early Infancy

Meike Schwendt
1   Department of Congenital Heart Disease and Paediatric Cardiology, Freiburg University Hospital, Freiburg, Baden-Württemberg, Germany
,
Johannes Kroll
2   Department of Cardio-Thoracic Surgery at University Heart Centre Freiburg, Freiburg University Hospital, Bad Krozingen, Medical Centre, University of Freiburg, Faculty of Medicine, Freiburg, Baden-Württemberg, Germany
,
Thilo Fleck
1   Department of Congenital Heart Disease and Paediatric Cardiology, Freiburg University Hospital, Freiburg, Baden-Württemberg, Germany
,
Brigitte Stiller
1   Department of Congenital Heart Disease and Paediatric Cardiology, Freiburg University Hospital, Freiburg, Baden-Württemberg, Germany
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Abstract

We report the case of a 3-month-old girl presenting with end-stage dilated cardiomyopathy and therapy-resistant cardiogenic shock. A left ventricular assist device (LVAD) Berlin Heart EXCOR was implanted, her organs recovered, and she was listed for heart transplantation. Two months later, while still on the LVAD, she was diagnosed with the rare genetic Alström syndrome. Weaning was no option, and she underwent successful heart transplantation at the age of 9 months. The follow-up 15 months later revealed an uneventful transplant course in a child with Alström syndrome.

Keywords

cardiomyopathy - Alström syndrome - Berlin Heart EXCOR - heart transplantation


Publikationsverlauf

Eingereicht: 04. August 2020

Angenommen: 09. September 2020

Artikel online veröffentlicht:
20. Januar 2021

© 2021. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).

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  • References

  • 1 Marshall JD, Beck S, Maffei P, Naggert JK. Alström syndrome. Eur J Hum Genet 2007; 15 (12) 1193-1202
    CrossrefPubMedSuche in Google Scholar
  • 2 Álvarez-Satta M, Castro-Sánchez S, Valverde D. Alström syndrome: current perspectives. Appl Clin Genet 2015; 8: 171-179
    Suche in Google Scholar
  • 3 Marshall JD, Maffei P, Collin GB, Naggert JK. Alström syndrome: genetics and clinical overview. Curr Genomics 2011; 12 (03) 225-235
    CrossrefPubMedSuche in Google Scholar
  • 4 Marshall JD, Muller J, Collin GB. et al. Alström syndrome: mutation spectrum of ALMS1. Hum Mutat 2015; 36 (07) 660-668
    CrossrefPubMedSuche in Google Scholar
  • 5 Hollander SA, Alsaleh N, Ruzhnikov M. et al. Variable clinical course of identical twin neonates with Alström syndrome presenting coincidentally with dilated cardiomyopathy. Am J Med Genet 2017; 173 (06) 1687-1689
    CrossrefPubMedSuche in Google Scholar
  • 6 Brofferio A, Sachdev V, Hannoush H. et al. Characteristics of cardiomyopathy in Alström syndrome: prospective single-center data on 38 patients. Mol Genet Metab 2017; 121 (04) 336-343
    CrossrefPubMedSuche in Google Scholar
  • 7 Hearn T. ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits. J Mol Med (Berl) 2019; 97 (01) 1-17
    CrossrefPubMedSuche in Google Scholar
  • 8 Shenje LT, Andersen P, Halushka MK. et al. Mutations in Alström protein impair terminal differentiation of cardiomyocytes. Nat Commun 2014; 5: 3416
    CrossrefPubMedSuche in Google Scholar