Combined PTPN11 and MYBPC3 Gene Mutations in an Adult Patient with Noonan Syndrome and Hypertrophic Cardiomyopathy

Caiazza, Martina; Rubino, Marta; Monda, Emanuele; Passariello, Annalisa; Fusco, Adelaide; Cirillo, Annapaola; Esposito, Augusto; Pierno, Anna; Fazio, Federica De; Pacileo, Roberta; Evangelista, Eloisa; Pacileo, Giuseppe; Russo, Maria Giovanna; Limongelli, Giuseppe

doi:10.3390/genes11080947

Cited by 19 publications

(6 citation statements)

References 19 publications

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“…Hypertrophic cardiomyopathy (HCM) is a heart muscle disease characterized by left ventricular hypertrophy that is not solely explained by abnormal loading conditions (i.e., hypertension, valvular heart disease, congenital heart disease) [40,41]. In nearly half of cases, the disease is inherited as an autosomal dominant genetic trait caused by mutations in genes encoding sarcomeric proteins [42][43][44][45][46] and is characterized by an extremely interindividual variability in the phenotypic expression.…”

Section: Hypertrophic Cardiomyopathymentioning

confidence: 99%

Molecular Basis of Inflammation in the Pathogenesis of Cardiomyopathies

Monda

Palmiero

Rubino

et al. 2020

IJMS

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Cardiomyopathies (CMPs) represent a diverse group of heart muscle diseases, grouped into specific morphological and functional phenotypes. CMPs are associated with mutations in sarcomeric and non-sarcomeric genes, with several suspected epigenetic and environmental mechanisms involved in determining penetrance and expressivity. The understanding of the underlying molecular mechanisms of myocardial diseases is fundamental to achieving a proper management and treatment of these disorders. Among these, inflammation seems to play an important role in the pathogenesis of CMPs. The aim of the present study is to review the current knowledge on the role of inflammation and the immune system activation in the pathogenesis of CMPs and to identify potential molecular targets for a tailored anti-inflammatory treatment.

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Section: Hypertrophic Cardiomyopathymentioning

confidence: 99%

Molecular Basis of Inflammation in the Pathogenesis of Cardiomyopathies

Monda

Palmiero

Rubino

et al. 2020

IJMS

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“…This confirms the wide genetic variability observed in NS patients. A compound heterozygous mutation of MYBPC3 and PTPN11 was reported in a patient with NS and HCMP ( 31 ). Although a relationship between genotype and phenotype has been established, no study has revealed a definite mechanism ( 32 , 33 , 34 , 35 ).…”

Section: Discussionmentioning

confidence: 99%

The Effect of Growth Hormone Therapy on Cardiac Outcomes in Noonan Syndrome: Long Term Follow-up Results

Cetin¹,

Ramoğlu²,

Şıklar³

et al. 2022

Jcrpe

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Objective: Cardiac involvement is common in Noonan syndrome (NS). Concerns have been raised regarding the effect of recombinant growth hormone (rGH) use on ventricular wall thickness and a possible increased risk of cardiac side effects. This study aimed to investigate the effect of rGH on the development of hypertrophic cardiomyopathy and other cardiac findings in NS Methods: Patients under the age of 18 years and diagnosed with NS according to the Van der Burgt criteria, were included. Patients were divided into two groups according to those receiving rGH or not at the time of obtaining cardiac measurements. Before and after the treatment, electrocardiographic and echocardiographic (ECHO) assessments were made, including interventricular septal thickness, left ventricular internal diameter, and left ventricular posterior thickness. Results were expressed as Z scores. Results: Twenty-four NS subjects (16 boys, eight girls) were included. At the beginning of the follow up, the overall height standard deviation score was -2.56±0.94. Sixteen were on rGH. The mean rGH treatment duration was 8.3±3.8 years, and the mean dose was 0.22±0.04 mg/kg/week. The final height was 169±8.2 cm, and 10 of 11 patients who reached the final height received rGH. There was no difference between the rGH and non-rGH groups in terms of ECHO parameters pre-and post-treatment. Conclusion: In this cohort, there was no change in ECHO parameters on rGH and during follow-up. These results suggest that rGH is safe in NS patients with cardiac pathology under close follow-up.

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“…The initial evaluation of a patient affected by HCM should include systematic research for clinical clues or “red flags,” obtained by pedigree analysis, clinical examination, ECG, imaging, and biochemical tests. In particular, the diagnosis of RASopathy may be suggested by facial dysmorphism, lentigines, sensorineural deafness, pulmonary stenosis, or biventricular hypertrophy ( 3 , 53 ).…”

Section: Malformation Syndromes: Rasopathiesmentioning

confidence: 99%

Hypertrophic Cardiomyopathy in Children: Pathophysiology, Diagnosis, and Treatment of Non-sarcomeric Causes

et al. 2021

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Hypertrophic cardiomyopathy (HCM) is a myocardial disease characterized by left ventricular hypertrophy not solely explained by abnormal loading conditions. Despite its rare prevalence in pediatric age, HCM carries a relevant risk of mortality and morbidity in both infants and children. Pediatric HCM is a large heterogeneous group of disorders. Other than mutations in sarcomeric genes, which represent the most important cause of HCM in adults, childhood HCM includes a high prevalence of non-sarcomeric causes, including inherited errors of metabolism (i.e., glycogen storage diseases, lysosomal storage diseases, and fatty acid oxidation disorders), malformation syndromes, neuromuscular diseases, and mitochondrial disease, which globally represent up to 35% of children with HCM. The age of presentation and the underlying etiology significantly impact the prognosis of children with HCM. Moreover, in recent years, different targeted approaches for non-sarcomeric etiologies of HCM have emerged. Therefore, the etiological diagnosis is a fundamental step in designing specific management and therapy in these subjects. The present review aims to provide an overview of the non-sarcomeric causes of HCM in children, focusing on the pathophysiology, clinical features, diagnosis, and treatment of these rare disorders.

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Combined PTPN11 and MYBPC3 Gene Mutations in an Adult Patient with Noonan Syndrome and Hypertrophic Cardiomyopathy

Cited by 19 publications

References 19 publications

Molecular Basis of Inflammation in the Pathogenesis of Cardiomyopathies

Molecular Basis of Inflammation in the Pathogenesis of Cardiomyopathies

The Effect of Growth Hormone Therapy on Cardiac Outcomes in Noonan Syndrome: Long Term Follow-up Results

Hypertrophic Cardiomyopathy in Children: Pathophysiology, Diagnosis, and Treatment of Non-sarcomeric Causes

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