Left ventricular non-compaction in identical twins with thalassaemia and cardiac iron overload

Luckie, Matthew; Irwin, Bruce; Nair, Satheesh; Greenwood, John P; Khattar, Rajdeep

doi:10.1093/ejechocard/jen319

Cited by 16 publications

(8 citation statements)

References 9 publications

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“…In the only previous report describing LVNC in an identical twin with TM, the authors speculated about a potential effect of cardiac siderosis in the increased thickness of the myocardium [26]. In our patients, there was no significant association between LVNC and cardiac T2* MRI values.…”

Section: Discussioncontrasting

confidence: 51%

“…Few reports described cases of isolated LVNC in hematological disorders: one case of spherocytosis [24] and another with essential thrombocythemia [25]. Recently, a first report of LVNC in identical twins with β‐thalassemia major (TM) and cardiac iron overload has been published [26]. In this line, this study aims to explore the prevalence and risk factors for LVNC in patients with β‐thalassemia presenting for cardiac iron assessment by MRI.…”

Section: Introductionmentioning

confidence: 99%

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Left ventricular noncompaction in patients with β‐thalassemia: Uncovering a previously unrecognized abnormality

et al. 2012

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Left ventricular noncompaction (LVNC) is a rare cardiomyopathy with potentially serious outcomes. It results in multiple and excessive trabeculations, deep intertrabecular recesses, and a thickened ventricular myocardium with two distinct layers, compacted and noncompacted. The condition is most commonly congenital; however, acquired forms have also been described. A recent report of LVNC detected in a bthalassemia twin suggested an association with cardiac siderosis. In a cross-sectional study of 135 transfusion-dependent patients with b-thalassemia (130 major and 5 intermedia, mean age 29.6 ± 7.7 years, 49.6% males) presenting for cardiac iron assessment by magnetic resonance imaging (MRI), we evaluated the prevalence and risk factors for LVNC. None of the patients had neuromuscular or congenital heart disease. Eighteen patients (13.3%; 95% confidence interval [CI] 5 8.6-20.1) fulfilled the preassigned strict criteria for LVNC on cardiac MRI. There were no statistically significant differences between patients with and without LVNC with respect to demographics; hemoglobin levels; splenectomy status; systemic, hepatic, and cardiac iron overload indices; hepatic disease and infection studies; or iron chelator type. Patients with LVNC were more likely to have heart failure (adjusted odds ratio 5 1.77; 95% CI 5 0.29-10.89); although with high uncertainty. Patients with b-thalassemia have a higher prevalence of LVNC than normal individuals. As this finding could not be explained by conventional risk factors in this patient population, further investigation of the underlying mechanisms of LVNC is warranted. This remains crucial for an entity with adverse cardiac outcomes, especially in patients with b-thalassemia where cardiac disease remains a primary cause of mortality. Am. J. Hematol. 87:1079Hematol. 87: -1083Hematol. 87: , 2012

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Section: Discussioncontrasting

confidence: 51%

Section: Introductionmentioning

confidence: 99%

Left ventricular noncompaction in patients with β‐thalassemia: Uncovering a previously unrecognized abnormality

et al. 2012

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“…Recently, LVHT has been diagnosed in identical twins with thalassaemia and secondary hemochromatosis who were receiving iron chelation therapy in the form of desferrioxamine [3]. Like in our case, it remained uncertain in these cases whether LVHT was caused by iron overload or whether this association was coincidental.…”

Section: Discussionmentioning

confidence: 62%

Non-compaction and polyneuropathy in a patient homozygous for the H63D HFE gene mutation

Stöllberger

Finsterer

2011

Open Medicine

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“…This is the first report of monochorionic monoamniotic twins discordant for the noncompaction cardiomyopathy. There have been three other case reports describing identical twins with noncompaction [Luckie et al, ; Peters et al, ; Vinograd et al, ]. However, in all three previous reports, both twins were diagnosed with noncompaction (Table ).…”

Section: Discussionmentioning

confidence: 94%

Monoamniotic monochorionic twins discordant for noncompaction cardiomyopathy

Bouhlal

Ursell

et al. 2013

American J of Med Genetics Pt A

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Occasionally “identical twins” are phenotypically different, raising the question of zygosity and the issue of genetic versus environmental influences during development. We recently noted monochorionic-monoamniotic twins, one of which had an isolated cardiac abnormality, noncompaction cardiomyopathy, a condition characterized by cardiac ventricular hypertrabeculation. We examined the prenatal course and subsequent pathologic correlation since ventricular morphogenesis may depend on early muscular contraction and blood flow. The monochorionic-monoamniotic female twin pair was initially identified since one fetus presented with increased nuchal translucency. Complete heart block was later identified in the fetus with nuchal translucency who did not survive after delivery. In contrast, the unaffected twin had normal cardiac studies both prenatally and postnatally. Pathologic analysis of the affected twin demonstrated noncompaction of the left ventricle with dysplasia of the aortic and pulmonary valves. Dissection of the cardiac conduction system disclosed atrioventricular bundle fibrosis. Maternal lupus studies, amniocentesis with karyotype, and studies for 22q11.2 were normal. To test for zygosity, we performed multiple STR marker analysis and found that all markers were shared even using non-blood tissues from the affected twin. These studies demonstrate that monozygotic twins that are monochorionic monoamniotic can be discordant for cardiac noncompaction. The results suggest further investigation into the potential roles of pathologic fibrosis, contractility, and blood flow in cardiac ventricle development.

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Left ventricular non-compaction in identical twins with thalassaemia and cardiac iron overload

Cited by 16 publications

References 9 publications

Left ventricular noncompaction in patients with β‐thalassemia: Uncovering a previously unrecognized abnormality

Left ventricular noncompaction in patients with β‐thalassemia: Uncovering a previously unrecognized abnormality

Non-compaction and polyneuropathy in a patient homozygous for the H63D HFE gene mutation

Monoamniotic monochorionic twins discordant for noncompaction cardiomyopathy

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