Neuromuscular implications in left ventricular hypertrabeculation/noncompaction

Finsterer, Josef; Stöllberger, Claudia; Blazek, Gerhard

doi:10.1016/j.ijcard.2005.10.028

Cited by 89 publications

(66 citation statements)

References 130 publications

(124 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…LVNC can occur in patients with malformation syndromes, including velocardiofacial syndrome (Madan et al 2010), Sotos syndrome , as well as states of aneuploidy and mosaicism (Beken et al 2011;McMahon et al 2005;Sellars et al 2011;Wang et al 2007). Furthermore, LVNC has been reported in association with several distinct inborn errors of metabolism (IEM) including Barth syndrome (Bleyl et al 1997 (Finsterer et al 2002); mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke (MELAS) syndrome as well as less well-defined mitochondriopathies (Finsterer et al 2006;St€ ollberger et al 1999). In at least one case, isolated LVNC has manifested as fetal hydrops (Richards et al 2009).…”

Section: Discussionmentioning

confidence: 99%

Noncompaction of the Ventricular Myocardium and Hydrops Fetalis in Cobalamin C Disease

Tanpaiboon

Sloan

Callahan³

et al. 2012

JIMD Reports

View full text Add to dashboard Cite

Cobalamin C disease (cblC), a form of combined methylmalonic acidemia and hyperhomocysteinemia caused by mutations in the MMACHC gene, may be the most common inborn error of intracellular cobalamin metabolism. The clinical manifestations of cblC disease are diverse and range from intrauterine growth retardation to adult onset neurological disease. The occurrence of structural heart defects appears to be increased in cblC patients and may be related to the function of the MMACHC enzyme during cardiac embryogenesis, a concept supported by the observation that Mmachc is expressed in the bulbis cordis of the developing mouse heart. Here we report an infant who presented with hydrops fetalis, ventricular dysfunction, and echocardiographic evidence of LVNC, a rare congenital cardiomyopathy. Metabolic evaluations, complementation studies, and mutation analysis confirmed the diagnosis of cblC disease. These findings highlight an intrauterine cardiac phenotype that can be displayed in cblC disease in association with nonimmune hydrops.

show abstract

Section: Discussionmentioning

confidence: 99%

Noncompaction of the Ventricular Myocardium and Hydrops Fetalis in Cobalamin C Disease

Tanpaiboon

Sloan

Callahan³

et al. 2012

JIMD Reports

View full text Add to dashboard Cite

show abstract

“…According to Oechslin’s definition, LVHT is conceptualized as maximal end-systolic ratio (thickness of the trabecular meshwork to thickness of the compacted myocardium) >2 with deep endomyocardial spaces and color Doppler evidence that they are perfused [5]. LVHT is associated with various neuromuscular disorders (NMDs), such as dystrophinopathies, dystrobrevinopathies, myotonic dystrophy, zaspopathy, myoadenylate-deaminase deficiency, Charcot-Marie-Tooth disease, mitochondrial disorder, Barth syndrome, Friedreich ataxia, or Pompe’s disease [7] in up to four-fifths of the cases with LVHT [8]. Additionally, it has been found in Turner syndrome, Ohtahara syndrome, Roifman syndrome, Noonan syndrome, nail patella syndrome, Melnick needles syndrome, MIDAS syndrome, DiGeorge syndrome, congenital adrenal hyperplasia, distal 4q trisomy and distal 1q monosomy, distal chromosome 5q deletion, trisomy 11, and trisomy 13 [7].…”

Section: Discussionmentioning

confidence: 99%

Non-Compaction on Autopsy in Duchenne Muscular Dystrophy

Finsterer

Stöllberger²,

Feichtinger³

2006

Cardiology

Self Cite

View full text Add to dashboard Cite

Left ventricular hypertrabeculation (LVHT) /non-compaction is frequently associated with neuromuscular disorders. Recently, LVHT has been detected in a 28-year patient with Duchenne muscular dystrophy. Here, the patho-anatomic findings of this patient are presented, which showed LVHT located within in the apex and the anterior and lateral wall, being the most demanded segments during systole. The septum and the left ventricular outflow tract were not involved. The patho-anatomic specimen also showed aberrant bands and false tendons, a frequent finding in hearts with LVHT. The patho-anatomic findings were in line with those of LVHT patients with or without neuromuscular disorders.

show abstract

“…Finsterer og medarbeidere har f.eks. gjentatte ganger argumentert for det rent deskriptive navnet «ventrikulaer hypertrabekulering» (6).…”

Section: Noe å Laere Avunclassified