Cardiogenetics, Neurogenetics, and Pathogenetics of Left Ventricular Hypertrabeculation/Noncompaction

Finsterer, Josef

doi:10.1007/s00246-008-9359-0

Cited by 207 publications

(153 citation statements)

References 140 publications

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“…Both isolated and familial cases have been reported (17). The combination of cardiomyopathy phenotypes (dilated and noncompacted) observed in our patients support the recent suggestions that there are shared molecular etiologies for different types of cardiomyopathies (18).…”

Section: Novel Features Of Dnajc19 Deficiencysupporting

confidence: 90%

New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies

et al. 2012

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Section: Novel Features Of Dnajc19 Deficiencysupporting

confidence: 90%

New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies

et al. 2012

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“…Familial LVHT may not predominantly follow an autosomal dominant trait of inheritance. Also autosomal recessive, X-linked or maternal transmission has been reported [6].…”

Section: Left Ventricular Hypertrabeculation/noncompaction In B-thalamentioning

confidence: 99%

“…Familial LVHT may not predominantly follow an autosomal dominant trait of inheritance. Also autosomal recessive, X-linked or maternal transmission has been reported [6].The authors speculate that LVHT in thalassemia is acquired [1]. They assume that LVHT is the consequence of a remodeling process triggered by anemia or hypoxia.…”

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confidence: 94%

Left ventricular hypertrabeculation/noncompaction in β‐thalassemia

Finsterer

Stöllberger

2013

American J Hematol

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Left ventricular hypertrabeculation/noncompaction in b-thalassemiaWith interest we read the article by Piga et al. about the prevalence and risk factors of left ventricular hypertrabeculation (LVHT) in patients with b-thalassemia presenting for iron assessment by cardiac MRI [1]. We have the following comments and concerns.Interestingly, the authors excluded patients with b-thalassemia and a neuromuscular disorder (NMD). It would be interesting to know how many patients were excluded because they presented with a NMD and which NMDs were diagnosed. How many patients were investigated by a neurologist familiar with NMD? How many underwent instrumental investigations to confirm or exclude a NMD? Did any of the included or excluded patients undergo muscle biopsy? Previous studies found that up to one-third of the adult patients with thalassemia major present with muscle weakness, wasting, and muscle cramps but usually normal CK and aldolase values [2]. NMD was also found in 28% of the pediatric patients with thalassemia [3]. Myopathy in b-thalassemia may be due to intra-mitochondrial iron accumulation [4]. Patients with thalassemia and myopathy should not be excluded from the study.LVHT occurs familiarly [5]. In how many of the 18 patients with LVHT were other family members screened for LVHT? How many other family members presented with LVHT and thalassemia? Did the mother of the one patient with LVHT also present with thalassemia? In case she did not have thalassemia, which other disease was underlying LVHT? Familial LVHT may not predominantly follow an autosomal dominant trait of inheritance. Also autosomal recessive, X-linked or maternal transmission has been reported [6].The authors speculate that LVHT in thalassemia is acquired [1]. They assume that LVHT is the consequence of a remodeling process triggered by anemia or hypoxia. However, there are no indications that patients with LVHT more frequently present with anemia than patients without LVHT. If they assume that LVHT had developed during life, it is essential to review previous echocardiographic or cardiac MRI investigations to see if LVHT was truly absent before its first detection. How many of the 18 patients with LVHT had undergone previous imaging investigations of the left ventricular myocardium? In how many was LVHT absent and thus acquired?

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“…2013). Carriers of these sarcomeric variants demonstrate a range of phenotypes from no LVNC (asymptomatic) to early onset LVNC or other cardiomyopathies (Moric‐Janiszewska and Markiewicz‐Łoskot 2008; Finsterer 2009). …”

Section: Introductionmentioning

confidence: 99%

The pathogenicity of genetic variants previously associated with left ventricular non‐compaction

Abbasi

Jabbari

et al. 2015

Molec Gen & Gen Med

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BackgroundLeft ventricular non‐compaction (LVNC) is a rare cardiomyopathy. Many genetic variants have been associated with LVNC. However, the number of the previous LVNC‐associated variants that are common in the background population remains unknown. The aim of this study was to provide an updated list of previously reported LVNC‐associated variants with biologic description and investigate the prevalence of LVNC variants in healthy general population to find false‐positive LVNC‐associated variants.Methods and ResultsThe Human Gene Mutation Database and PubMed were systematically searched to identify all previously reported LVNC‐associated variants. Thereafter, the Exome Sequencing Project (ESP) and the Exome Aggregation Consortium (ExAC), that both represent the background population, was searched for all variants. Four in silico prediction tools were assessed to determine the functional effects of these variants. The prediction results of those identified in the ESP and ExAC and those not identified in the ESP and ExAC were compared. In 12 genes, 60 LVNC‐associated missense/nonsense variants were identified. MYH7 was the predominant gene, encompassing 24 of the 60 LVNC‐associated variants. The ESP only harbored nine and ExAC harbored 18 of the 60 LVNC‐associated variants. In total, eight out of nine ESP‐positive variants overlapped with the 18 variants identified in ExAC database.ConclusionsIn this article, we identified 9 ESP‐positive and 18 ExAC‐positive variants of 60 previously reported LVNC‐associated variants, suggesting that these variants are not necessarily the monogenic cause of LVNC.

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Cardiogenetics, Neurogenetics, and Pathogenetics of Left Ventricular Hypertrabeculation/Noncompaction

Abstract: Most frequently, LVHT is associated with mutations in genes causing muscle or cardiac disease, or with chromosomal disorders. These associations require comprehensive cardiac, neurologic, and cytogenetic investigations.

Cited by 207 publications

References 140 publications

New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies

New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies

Left ventricular hypertrabeculation/noncompaction in β‐thalassemia

The pathogenicity of genetic variants previously associated with left ventricular non‐compaction

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