Myoadenylate-deaminase gene mutation associated with left ventricular hypertrabeculation/non-compaction

Acta Cardiologica
Josef FinstererClaudia Stöllberger

Abstract

Left ventricular hypertrabeculation (LVHT)/non-compaction, a rare myocardial abnormality and frequently associated with neuromuscular disorders, has not been reported in primary myoadenylate-deaminase (MAD) deficiency (MADD). In a 53-year-old man with easy fatigability and myalgia since boyhood, primary MADD was diagnosed based upon slightly, but recurrently elevated creatine-kinase, absent staining for MAD on muscle biopsy, markedly reduced MAD activity in the muscle homogenate, and the C34T mutation within exon 2 of the AMPD1 gene. An ambulatory ECG showed nocturnal sinus bradycardia and echocardiography thickening of the interventricular septum (20 mm) and the posterior wall (16 mm) and additionally LVHT. Cardiac MRI confirmed myocardial thickening and LVHT. Myocardial thickening and LVHT were regarded as causally related to the C34T mutation. Cardiac involvement in MADD may manifest as left ventricular myocardial thickening and LVHT. MADD should be included in the list of neuromuscular disorders which are associated with LVHT.

Citations

Oct 25, 2013·Wiener medizinische Wochenschrift·Josef Finsterer, Claudia Stöllberger
Nov 21, 2007·Current Opinion in Pediatrics·Michael V ZaragozaJagat Narula
Aug 28, 2012·International Journal of General Medicine·Mehrnoush ToufanMajid Khalili
Feb 26, 2013·Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology·Josef FinstererKarim Wahbi
Dec 26, 2006·International Journal of Cardiology·Claudia StöllbergerJosef Finsterer
Mar 2, 2012·Journal of Cellular Physiology·Richard A Fenton, James G Dobson
Dec 21, 2005·International Journal of Cardiology·Josef FinstererGerhard Blazek
Oct 18, 2005·International Journal of Cardiology·Claudia StöllbergerJosef Finsterer
Feb 1, 2011·Annales de cardiologie et d'angéiologie·H FettouhiM Cherti
Mar 7, 2013·International Journal of Cardiology·Josef FinstererErnst Sehnal
Apr 15, 2014·International Journal of Cardiology·Josef FinstererNigel G Laing
Jan 13, 2017·Nature Reviews. Cardiology·Josef FinstererJeffrey A Towbin

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