Noncompaction of the ventricular myocardium in Melnick-Needles syndrome

Wong, Jeffrey A.; Bofinger, Mary K.

doi:10.1002/(sici)1096-8628(19970711)71:1<72::aid-ajmg13>3.0.co;2-s

Cited by 47 publications

(6 citation statements)

References 6 publications

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“…The occurrence of INVM in a female patient born to consanguineous parents and the recurrence of the disease in brother and sister suggest that some cases of INVM may be an autosomal recessive trait. The recent report showing INVM in a patient with Melnick-Needles syndrome [Wong and Bofinger, 1997] and the finding of facial anomalies and mental retardation in the familial cases reported by Chin et al [1990], as in our cases, suggest that INVM may be associated with genetic conditions different from the Barth syndrome. The knowledge of genetic heterogeneity of INVM has obvious implications for genetic counseling.…”

Section: To the Editorsupporting

confidence: 77%

Genetic heterogeneity of isolated noncompaction of the left ventricular myocardium

et al. 1999

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Section: To the Editorsupporting

confidence: 77%

Genetic heterogeneity of isolated noncompaction of the left ventricular myocardium

et al. 1999

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“…54 Chromosomal anomalies and syndromes are also associated with noncompaction of the ventricles, including Barth syndrome, 12 which may be genetically related, congenital adrenal hyperplasia, DiGeorge syndrome, 7 myopathic changes with inclusions in skeletal muscle fibers, 7 and Melnick-Needles syndrome, 55 Roifman's syndrome, 56 Charcot-Marie-Tooth disease, 57 and metabolic disorders such as Fabry's disease, 58 and chromosomal anomalies of 13 trisomy, 59 chromosome 5q deletion 60 and 1q43 deletion. 61 Mitochondrial diseases, such as mitochondrial enzyme complex II deficiency, may be another cause of LVNC and potentially lethal.…”

Section: Ldb3mentioning

confidence: 99%

Left Ventricular Noncompaction

Ichida

2009

Circ J

114

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Left ventricular noncompaction (LVNC) is a recently defined cardiomyopathy characterized by a pattern of prominent trabecular meshwork and deep intertrabecular recesses, and is thought to be caused by arrest of normal endomyocardial morphogenesis. Although LVNC has been classified as a primary cardiomyopathy of genetic origin, its definition and diagnostic criteria are still being debated. Isolated LVNC was thought to be rare; however, heightened awareness has resulted in an increased detection of the morphological features of LVNC in routine clinical practice, especially in the adult population. Clinical manifestations are highly variable, ranging from no symptoms to disabling congestive heart failure, arrhythmias, and systemic thromboemboli. LVNC, like other forms of inherited cardiomyopathy, is genetically heterogeneous and can be inherited as an autosomaldominant or X-linked recessive disorder. It has been linked to mutations in several genes, including LIM domain binding protein 3 (ZASP), α-dystrobrevin (DTNA), tafazzin (TAZ/G4.5) and those encoding sarcomeric proteins. However, the relatively small contribution of known mutations to the disease, compared with the higher proportion of familial cases suggests that other elusive genes remain to be identified. (Circ J 2009; 73: 19 -26)

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“…In 1995, Hamel et al (11) proposed the term “ter Haar syndrome”, distinct from Melnick−Needles syndrome, as a unique entity showing recessive inheritance. Wong et al (12) demonstrated the noncompaction of the left ventricle in a patient with Melnick−Needles syndrome. Our patient did not have any cardiac abnormality or glaucoma; thus, ter Haar syndrome was excluded.…”

Section: Discussionmentioning

confidence: 99%

Melnick-Needles Syndrome Associated with Growth Hormone Deficiency: A Case Report

Akın¹,

Adal²,

Akın³

et al. 2009

JCRPE

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Melnick−Needles syndrome is an X−linked dominant bone dysplasia characterized by a typical facies (exophthalmos, full cheeks, micrognathia, and malalignment of teeth), flaring of the metaphyses of long bones, s−like curvature of the lower extremities, irregular constriction in the ribs, and sclerosis of base of the skull. The phenotype of affected individuals varies, even within families. About fifty cases of Melnick−Needles syndrome have been reported to date. Short stature is not a well−known component of the disorder. There is only one reported case of Melnick−Needles syndrome associated with growth hormone deficiency. A six−year−old girl who presented to our clinic with short stature was diagnosed as Melnick−Needles syndrome based upon characteristic clinical and radiological findings. Two different stimulation tests demonstrated growth hormone deficiency. Presenting this second case of Melnick−Needles syndrome associated with growth hormone deficiency, we suggest that this association may be coincidental, but that it may also be a consequence of craniofacial abnormalities or an independent component of the disorder.Conflict of interest:None declared.

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Noncompaction of the ventricular myocardium in Melnick-Needles syndrome

Cited by 47 publications

References 6 publications

Genetic heterogeneity of isolated noncompaction of the left ventricular myocardium

Genetic heterogeneity of isolated noncompaction of the left ventricular myocardium

Left Ventricular Noncompaction

Melnick-Needles Syndrome Associated with Growth Hormone Deficiency: A Case Report

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