A regional study of presentation and outcome of hypertrophic cardiomyopathy in infants.

Skinner, Jonathan R.; Manzoor, Ameena; Hayes, Alison; Joffe, H. S.; Martin, Randolph P.

doi:10.1136/hrt.77.3.229

Cited by 30 publications

(18 citation statements)

References 21 publications

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“…In our case, the left ventricle manifested diffuse hypertrophy in the neonatal period and the hypertrophy and LVOTO progressed rapidly within a few months. Although the poor response to medical and surgical therapy has been reported in infants with Noonan syndrome and rapidly progressive obstructive cardiomyopathy [5,17], our combination therapy with propranolol and cibenzoline was effective in improving progressive congestive heart failure: the former through its negative inotropic effect and the latter through its Na + and Ca 2+ channel blocking actions [4]. Despite the severe cardiac phenotype and deafness, other symptoms in this case were not severe.…”

Section: Discussionmentioning

confidence: 84%

A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy

et al. 2005

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Section: Discussionmentioning

confidence: 84%

A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy

et al. 2005

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“…A similar pattern of complete resolution of hypertrophic cardiomyopathy was described previously in children with the idiopathic (or familial) form and in a child with Noonan syndrome (24). Because the natural history of podocin-associated SRNS is of ESRD during the first decade of life, it precludes the systematic study of LVH during this period independent of hypertension or CKD.…”

Section: Discussionmentioning

confidence: 85%

The Heart of Children with Steroid-Resistant Nephrotic Syndrome

Frishberg

Feinstein²,

Rinat³

et al. 2006

Journal of the American Society of Nephrology

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Mutations in the gene NPHS2 encoding podocin are responsible for a recessive form of steroid-resistant nephrotic syndrome (SRNS). The common phenotype is of massive proteinuria in early childhood that tends to progress to end-stage renal failure. Extrarenal manifestations have not been described. Twenty-two children with SRNS from six unrelated Arab families were found to be homozygous for the R138X mutation in NPHS2. Eighteen patients underwent cardiac evaluation at diagnosis of SRNS while they had normal BP and preserved renal function. Cardiac anomalies were detected in 16 (89%) children: Left ventricular hypertrophy in eight, pulmonary stenosis in six, discrete subaortic stenosis in two, and Ebstein anomaly and ventricular septal defect in one each. The remaining four affected individuals were assessed only once they had end-stage renal failure. They had severe left ventricular hypertrophy and experienced repeated episodes of heart failure. Two control groups were equally evaluated. The first consisted of 37 siblings without nephrotic syndrome, of whom only one carrier had a cardiac defect (P < 0.001). None of the second group, which included 22 children with persistent nephrotic syndrome as a result of other causes, had a cardiac anomaly (P < 0.001). Cardiac disorders in homozygotes for mutations in NPHS2 cannot be attributed to an association by chance or to a state of persistent nephrotic syndrome. Because human podocin mRNA is expressed in fetal heart, it is speculated that it may have a role in normal cardiac development. Cardiac evaluation is recommended at the time of diagnosis of SRNS due to mutations in podocin.

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“…These include large QRS complexes and shortened PR interval, which are also characteristic of other types of GSD with cardiac involvement, such as Pompe's disease (GSD II) and Cori-Forbes disease (GSD III) [4]. The hypertrophic nonobstructive echocardiographic pattern associated with cardiac GSD IX is also nonspecific; it can be seen in various metabolic cardiomyopathies [6] as well as in some cases of Noonan syndrome and some cases of idiopathic/familial hypertrophic cardiomyopathy [8,9].…”

Section: Discussionmentioning

confidence: 99%

Infantile Hypertrophic Cardiomyopathy of Glycogenosis Type IX: Isolated Cardiac Phosphorylase Kinase Deficiency

1999

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Glycogen storage disease confined to the heart due to cardiac phosphorylase kinase deficiency causes a fatal infantile cardiomyopathy. Cardiomegaly can be detected in utero and is progressive. Electrocardiographic and echocardiographic findings are characteristic but not specific; these include large QRS complexes, short PR interval, and a hypertrophic nonobstructive pattern. Conclusive diagnosis requires biochemical analysis of myocardium, which may not be possible premortem due to the amount of tissue required. Pathologic examination of a standard cardiac biopsy can provide a presumptive diagnosis. There is no current treatment except a heart transplant. Infants succumb to heart failure and/or respiratory compromise due to pulmonary compression. This is a rare entity; only three cases have been reported to our knowledge. We report two additional cases.

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A regional study of presentation and outcome of hypertrophic cardiomyopathy in infants.

Abstract: Objective-To describe regional incidence, presentation, and outcome of idiopathic (familial) and Noonan syndrome related infant hypertrophic cardiomyopathy (HCM)

Cited by 30 publications

References 21 publications

A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy

A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy

The Heart of Children with Steroid-Resistant Nephrotic Syndrome

Infantile Hypertrophic Cardiomyopathy of Glycogenosis Type IX: Isolated Cardiac Phosphorylase Kinase Deficiency

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