Recurrent Pericarditis in Myhre Syndrome

Picco, Paolo; Naselli, Aldo; Pala, Giovanna; Marsciani, Alberto; Buoncompagni, Antonella; Martini, Alberto

doi:10.1002/ajmg.a.35892

Cited by 19 publications

(9 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Among these defects, TOF has not been reported. Moreover, patients with Myhre syndrome can develop recurrent pericardial effusion, constrictive pericarditis and cardiomyopathy (Lin et al, ; Picco et al, ). Given the occurrence of such complications, a timely diagnosis of Myhre syndrome is important.…”

Section: Discussionmentioning

confidence: 99%

A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot

Alagia

Cappuccio

Pinelli

et al. 2017

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Myhre syndrome is a rare autosomal dominant disorder caused by a narrow spectrum of missense mutations in the SMAD4 gene. Typical features of this disorder are distinctive facial appearance, deafness, intellectual disability, cardiovascular abnormalities, short stature, short hands and feet, compact build, joint stiffness, and skeletal anomalies. The clinical features generally appear during childhood and become more evident in older patients. Therefore, the diagnosis of this syndrome in the first years of life is challenging. We report a 2‐year‐old girl diagnosed with Myhre syndrome by whole exome sequencing (WES) that revealed the recurrent p.Ile500Val mutation in the SMAD4 gene. Our patient presented with growth deficiency, dysmorphic features, tetralogy of Fallot, and corectopia (also known as ectopia pupillae). The girl we described is the youngest patient with Myhre syndrome. Moreover, corectopia and tetralogy of Fallot have not been previously reported in this disorder.

show abstract

Section: Discussionmentioning

confidence: 99%

A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot

Alagia

Cappuccio

Pinelli

et al. 2017

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

Section: Glossarymentioning

confidence: 99%

“…Somatic findings: Short stature, muscular-appearing body build, brachydactyly, scleroderma-like skin, joint contractures, and sensorineural deafness. 272 Characteristic facial features include wide forehead, blepharophimosis, deviation of the nasal tip, cleft lip, malar hypoplasia, prognathism, and microtia. 273 Additionally, intellectual disability, ocular disease, developmental delay, heart malformations, delayed puberty, and restrictive lung disease.…”

Section: Spondylo-enchondro-dysplasia Spencd (Omim: 271550)mentioning

confidence: 99%

“…Skeleton: Short tubular bones, thick femoral necks, brachydactyly, thick calvarium, iliac hypoplasia, broad ribs with the absence of one rib pair, platyspondyly, scoliosis, and vertebral fusion. 272 CNS: Occasionally short corpus callosum, nonspecific white matter signal abnormalities, and mild ventriculomegaly. 273 Sialic acid storage diseases, SIASD (OMIM: 269920) General information: Group of autosomal recessive disorders caused by mutations in SLC17A5 and resulting in accumulation of free sialic acid in the lysosomes.…”

Section: Spondylo-enchondro-dysplasia Spencd (Omim: 271550)mentioning

confidence: 99%

See 1 more Smart Citation

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Wagner

Poretti

Benson

et al. 2016

Journal of Neuroimaging

View full text Add to dashboard Cite

Genetic skeletal disorders (GSDs) are a heterogeneous group characterized by an intrinsic abnormality in growth and (re-)modeling of cartilage and bone. A large subgroup of GSDs has additional involvement of other structures/organs beside the skeleton, such as the central nervous system (CNS). CNS abnormalities have an important role in long-term prognosis of children with GSDs and should consequently not be missed. Sensitive and specific identification of CNS lesions while evaluating a child with a GSD requires a detailed knowledge of the possible associated CNS abnormalities. Here, we provide a pattern-recognition approach for neuroimaging findings in GSDs guided by the obvious skeletal manifestations of GSD. In particular, we summarize which CNS findings should be ruled out with each GSD. The diseases (n = 180) are classified based on the skeletal involvement (1. abnormal metaphysis or epiphysis, 2. abnormal size/number of bones, 3. abnormal shape of bones and joints, and 4. abnormal dynamic or structural changes). For each disease, skeletal involvement was defined in accordance with Online Mendelian Inheritance in Man. Morphological CNS involvement has been described based on extensive literature search. Selected examples will be shown based on prevalence of the diseases and significance of the CNS involvement. CNS involvement is common in GSDs. A wide spectrum of morphological abnormalities is associated with GSDs. Early diagnosis of CNS involvement is important in the management of children with GSDs. This pattern-recognition approach aims to assist and guide physicians in the diagnostic work-up of CNS involvement in children with GSDs and their management.

show abstract

“…Indeed, this clinical study led to highlight significant, possibly life‐threatening, health concerns in the course of the disease including obesity (56% = 23/41), arterial hypertension (33% = 17/51), broncho‐pulmonary insufficiency (39% = 12/31), laryngo‐tracheal stenosis and pericarditis. Apart from the Myhre patient who died of constrictive pericarditis , other cases of pericarditis reported showed: one case occurred at 6 years of age with spontaneous resolution , one case of LAPS with constrictive pericarditis at 10 years of age, associated with right ventricular hypertrophy, requiring pericardiectomy at 12 years (histology with fibrotic pericardium) , one case of LAPS with pericardial effusion that did not recur after window and pericardial biopsy (non‐specific fibrosis) and one case of LAPS with constrictive pericardium requiring pericardiectomy, who also had progressive stenosis of distal aorta with claudication and one case who developed recurrent pericarditis since his 7 years of age, which seemed to respond well to anakinra (Kineret ® , Swedish Orphan Biovitrum, Stockolm, Sweden) .…”

Section: Definitionmentioning

confidence: 99%

Myhre syndrome

2014

View full text Add to dashboard Cite

Myhre syndrome (MS) is a developmental disorder characterized by typical facial dysmorphism, thickened skin, joint limitation and muscular pseudohypertrophy. Other features include brachydactyly, short stature, intellectual deficiency with behavioral problems and deafness. We identified SMAD4 as the gene responsible for MS. The identification of SMAD4 mutations in Laryngotracheal stenosis, Arthropathy, Prognathism and Short stature (LAPS) cases supports that LAPS and MS are a unique entity. The long-term follow up of patients shows that these conditions are progressive with life threatening complications. All mutations are de novo and changing in the majority of cases Ile500, located in the MH2 domain involved in transcriptional activation. We further showed an impairment of the transcriptional regulation via TGFβ target genes in patient fibroblasts. Finally, the absence of SMAD4 mutations in three MS cases may support genetic heterogeneity.

show abstract

Recurrent Pericarditis in Myhre Syndrome

Cited by 19 publications

References 10 publications

A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot

A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Myhre syndrome

Contact Info

Product

Resources

About