Noncompaction Cardiomyopathy with Charcot-Marie-Tooth Disease

Eltawansy, Sherif Ali; Bakos, Andrea; Checton, John

doi:10.1155/2015/646890

Cited by 4 publications

(5 citation statements)

References 22 publications

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“…The first identified genetic abnormality causing LVNC (without congenital heart disease) was a mutation in the X‐lined TAZ gene which encodes tafazzin , an acyltransferase which is critical for remodeling of cardiolipin in the mitochondrial membrane, and which is now known to cause Barth syndrome [Bleyl et al, ]. LVNC has also been linked with several chromosomal disorders and genetic syndromes, including chromosome 1p36 deletion [Battaglia et al, ; Lee et al, ], 22q11 deletion [Branton et al, ], trisomies 18 and 13 [McMahon et al, ; Beken et al, ; Yukifumi et al, ], Coffin–Lowry syndrome [Martinez et al, ], and Charcot–Marie–Tooth disease [Corrado et al, ; Eltawansy et al, ], among others.…”

Section: Discussionmentioning

confidence: 99%

Novel findings of left ventricular non‐compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A‐associated Cornelia de Lange syndrome

Wenger

Chow

Randle

et al. 2016

American J of Med Genetics Pt A

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Relatively few patients with Cornelia de Lange syndrome (CdLS) due to SMC1A mutation have been reported, limiting understanding of the full extent of the phenotype. Compared to children with classic NIPBL-associated CdLS, patients with SMC1A-associated CdLS have a milder physical phenotype with prominent intellectual disability, high rate of cleft palate and absence of limb reductions. We present a patient with SMC1A-associated CdLS who had typical features including developmental delay, seizure disorder, feeding difficulties, hirsutism, and cleft palate. She also was found to have three novel features: (i) left ventricular non-compaction (LVNC) cardiomyopathy; (ii) microform cleft lip; and (iii) severe hyperopia and astigmatism. These features have implications regarding potential insight into the pathogenesis of the disorder, screening, and medical management. Hypertrophic cardiomyopathy has previously been reported in SMC1A-associated CdLS, but to our knowledge this is the first reported child with LVNC. Previous reports have included children with isolated clefts of the palate without involvement of the lip. When cleft palate alone is associated with a disorder, the underlying pathophysiology for clefting is sometimes secondary due to mechanical blocking of the fusion of the palatal shelves with the developing tongue. The presence of microform cleft lip in this patient suggests that the pathophysiology of clefting in SMC1A is primary rather than secondary. Few studies report ophthalmologic findings specific to SMC1A. Based on these findings, LVNC cardiomyopathy and cleft lip should be considered features of SMC1A-associated CdLS. All patients should receive echocardiogram and undergo thorough ophthalmologic evaluation as part of routine CdLS care. © 2016 Wiley Periodicals, Inc.

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Section: Discussionmentioning

confidence: 99%

Novel findings of left ventricular non‐compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A‐associated Cornelia de Lange syndrome

Wenger

Chow

Randle

et al. 2016

American J of Med Genetics Pt A

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“…26 Cardiac disease, including cardiac arrhythmias, cardiomyopathy, ischemic heart disease, and mitral valve prolapse, has been described in humans with CMT. 11,19 However, the direct association of cardiac disease with the peripheral neuropathy is controversial. Morphometric heart measurements and microscopic examination of the heart failed to detect any evidence of heart disease in cattle with CMT4H.…”

Section: Discussionmentioning

confidence: 99%

“…On LFB-stained sections, peripheral nerves showed evidence of demyelination (Figs. [10][11][12]. No microscopic lesions were detected in the spinal cord or brain.…”

Section: Histopathology and Immunohistochemistrymentioning

confidence: 91%

Pathology of the peripheral neuropathy Charcot-Marie-Tooth disease type 4H in Holstein Friesian cattle with a splice site mutation in FGD4

et al. 2022

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Charcot-Marie-Tooth disease (CMT) is a hereditary sensory and motor peripheral neuropathy that is one of the most common inherited neurological diseases of humans and may be caused by mutations in a number of different genes. The subtype Charcot-Marie-Tooth disease type 4H (CMT4H) is caused by homozygous mutations in the FGD4 (FYVE, RhoGEF, and PH domain-containing 4) gene. A previous genome-wide association study involving 130,783 dairy cows found 6 novel variants, one of which was a homozygous splice site mutation in the FGD4 gene. Descendants of carriers were genotyped to identify 9 homozygous Holstein Friesian calves that were raised to maturity, of which 5 were euthanized and sampled for histopathology and electron microscopy at 2 and 2.5 years of age. Three control Holstein Friesian animals were raised with the calves and euthanized at the same time points. No macroscopic lesions consistent with CMT4H were seen at necropsy. Microscopically, peripheral nerves were hypercellular due to hyperplasia of S100-positive Schwann cells, and there was onion bulb formation, axonal degeneration with demyelination, and increased thickness of the endoneurium. On electron microscopy, decreased axonal density, onion bulb formations, myelin outfoldings, and increased numbers of mitochondria were present. These changes are consistent with those described in mouse models and humans with CMT4H, making these cattle a potential large animal model for CMT.

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“…There are several types of genetic disorders, which lead to sensory neuropathy and may be related to cardiovascular symptoms. ) and high fat diet Koncsos et al, 2016 Alcoholism No characteristic cardiovascular involvement Koike et al, 2003 Mouse model of chronic plus binge alcohol feeding-induced ethanol intoxication Matyas et al, 2016 (Continues) Dux et al, 1999;Siau et al, 2006 N compaction cardiomyopathy (or ventricular hypertrabeculation), was described (Eltawansy, Bakos, & Checton, 2015), which is accompanied with high incidence of arrhythmias and embolic complications. Given the numerous mutations and genes associated with CMT, there are several animal models under development.…”

Section: Primary Neuropathies: Hereditary Disordersmentioning

confidence: 99%

“…In the extensive literature on this disease only a few case reports refer cardiac effects. In a recent paper, regarding CMT disease, a novel cardiomyopathy condition, non‐compaction cardiomyopathy (or ventricular hypertrabeculation), was described (Eltawansy, Bakos, & Checton, 2015), which is accompanied with high incidence of arrhythmias and embolic complications. Given the numerous mutations and genes associated with CMT, there are several animal models under development.…”

Section: Co‐morbidities Simultaneously Affecting the Sensory Nerves Amentioning

confidence: 99%

Myocardial ischaemia reperfusion injury and cardioprotection in the presence of sensory neuropathy: Therapeutic options

Bencsik

Gömöri

Szabados

et al. 2020

British J Pharmacology

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During the last decades, mortality from acute myocardial infarction has been dramatically reduced. However, the incidence of post-infarction heart failure is still increasing. Cardioprotection by ischaemic conditioning had been discovered more than three decades ago. Its clinical translation, however, is still an unmet need. This is mainly due to the disrupted cardioprotective signalling pathways in the presence of different cardiovascular risk factors, co-morbidities and the medication being taken. Sensory neuropathy is one of the co-morbidities that has been shown to interfere with cardioprotection. In the present review, we summarize the diverse aetiology of sensory neuropathies and the mechanisms by which these neuropathies may interfere with ischaemic heart disease and cardioprotective signalling. Finally, we suggest future therapeutic options targeting both ischaemic heart and sensory neuropathy simultaneously.

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Noncompaction Cardiomyopathy with Charcot-Marie-Tooth Disease

Cited by 4 publications

References 22 publications

Novel findings of left ventricular non‐compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A‐associated Cornelia de Lange syndrome

Novel findings of left ventricular non‐compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A‐associated Cornelia de Lange syndrome

Pathology of the peripheral neuropathy Charcot-Marie-Tooth disease type 4H in Holstein Friesian cattle with a splice site mutation in FGD4

Myocardial ischaemia reperfusion injury and cardioprotection in the presence of sensory neuropathy: Therapeutic options

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