Extracorporeal Life Support in Multisystem Smooth Muscle Dysfunction Syndrome

Prabhu, Sudesh; Fox, Scott; Mattke, Adrian; Armes, Jane E.; Alphonso, Nelson

doi:10.1177/2150135116658457

Cited by 4 publications

(8 citation statements)

References 7 publications

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“…PDAs were large, and the majority of patients required surgical correction in the first year of life. Untreated or late treatment of PDA is associated with progressive respiratory deterioration, prolonged ventilator support and death 6 , 12 . Surgical correction of the PDA should be considered in infants with SMDS, since delaying this surgery has the potential to escalate the pulmonary arterial hypertension.…”

Section: Discussionmentioning

confidence: 99%

Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations

Regalado

Mellor‐Crummey

Backer

et al. 2018

Genetics in Medicine

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PURPOSESmooth muscle dysfunction syndrome (SMDS) due to heterozygous ACTA2 arginine 179 alterations is characterized by patent ductus arteriosus, vasculopathy (aneurysm and occlusive lesions), pulmonary arterial hypertension, and other complications in smooth muscle-dependent organs. We sought to define the clinical history of SMDS to develop recommendations for evaluation and management.METHODSMedical records of 33 patients with SMDS (median age 12 years) were abstracted and analyzed.RESULTSAll patients had congenital mydriasis and related pupillary abnormalites at birth and presented in infancy with a patent ductus arteriosus or aorto-pulmonary window. Patients had cerebrovascular disease characterized by small vessel disease (hyperintense periventricular white matter lesions; 95%), intracranial artery stenosis (77%), ischemic strokes (27%), and seizures (18%). Twelve (36%) patients had thoracic aortic aneurysm repair or dissection at median age of 14 years and aortic disease was fully penetrant by the age of 25 years. Three (9%) patients had axillary artery aneurysms complicated by thromboembolic episodes. Nine patients died between the ages of 0.5 and 32 years due to aortic, pulmonary or stroke complications, or unknown causes.CONCLUSIONBased on these data, recommendations are provided for the surveillance and management of SMDS to help prevent early onset life-threatening complications.

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Section: Discussionmentioning

confidence: 99%

Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations

Regalado

Mellor‐Crummey

Backer

et al. 2018

Genetics in Medicine

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“…SMCs play a major role in catheter closure, and their dysfunction leads to the persistence of ductus arteriosus. It has been reported that pulmonary hypertension may be due to the combined action of large PDA and pulmonary parenchymal diseases and that the repair of PDA is essential for the recovery of pulmonary parenchymal diseases[15]. In a long-term follow-up study of three MSMDS patients by Yetman et al[13], they found that the aorta dilated progressively with age, which may be related to the change in α protein structure caused by ACTA2 mutation leading to the decrease in aortic contractility.…”

Section: Discussionmentioning

confidence: 99%

“…However, the relationship between the ACTA2 gene causing MSMDS and lung pathology has not been well elucidated. Prabhu et al[15] believe that pulmonary vascular changes may be caused by pulmonary hypertension secondary to PDA or by elevated pulmonary pressure caused by structural disorders of abnormal alveolar growth. However, in the case of the absence of intimal hyperplasia, intimal hypertrophy of small muscle arteries may be caused by the hypercontraction of arterial smooth muscle.…”

Section: Discussionmentioning

confidence: 99%

Multisystem smooth muscle dysfunction syndrome in a Chinese girl: A case report and review of the literature

Chen¹,

Wang²,

Hao³

et al. 2019

WJCC

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BACKGROUNDMultisystemic smooth muscle dysfunction syndrome (MSMDS) is a rare genetic disease worldwide. The main mutation is the actin alpha 2 (ACTA2) gene p.R179H. In this paper, we report a Chinese MSMDS patient and systematically review the previous literature.CASE SUMMARYHere, we report a 9.6-month-old Chinese girl who was diagnosed with MSMDS based on her history and symptoms, such as recurrent cough, wheezing, and complications with congenital fixed dilated pupils. Chest high-resolution computed tomography revealed inhomogeneous lung transparency, obvious exudative lesions, and some lung fissures that were markedly thickened. Cranial magnetic resonance imaging excluded bleeding and infarction but showed abnormal signals in the centrum ovale majus and bilateral periventricular regions. Echocardiography only showed patent foramen ovale, and no patent ductus arteriosus, pulmonary artery dilatation, or pulmonary hypertension was found. Bronchoscopy indicated moderate bronchial malacia. These examinations in conjunction with the typical eye abnormality suggested a diagnosis of MSMDS, and sequencing of exon 6 of the ACTA2 gene demonstrated the heterozygous mutation c.536G>A, p.R179H. However, her parents’ gene analyses were normal.CONCLUSIONMSMDS is a rare genetic disease mainly caused by the mutation of the ACTA2 gene p.R179H. Early genetic diagnosis should be performed for children presenting with congenital fixed dilated pupils and patent ductus arteriosus. During the process of diagnosis and treatment, clinicians should be on high alert for cerebrovascular, cardiovascular, and pulmonary complications.

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“…A typical cerebrovascular pattern characterized by dilatation of proximal internal carotid artery and at the same time occlusive disease of terminal internal carotid artery, an abnormally straight course of intracranial arteries were described in MSMDS patients (Georgescu et al, 2015, Richer et al, 2012. Ardhanari et al, 2020;Brodsky et al, 2014;Chen et al, 2019;D'Arco et al, 2018;Georgescu et al, 2015;Logeswaran et al, 2017;Milewicz et al, 2010;Moller et al, 2012;Moosa et al, 2013;Munot et al, 2012;Prabhu et al, 2017;Richer et al, 2012;Roulez et al, 2014;Rutledge et al, 2016;Sabo et al, 2020;She et al, 2021;Taubenslag et al, 2019;Yang et al, 2021;Yetman et al, 2015;Yeung et al, 2017).…”

Section: Neurological and Neuroradiological Featuresmentioning

confidence: 96%

“…In association to the cardiac features at 38 weeks of pregnancy, an ultrasound scan detected in our patient an enlarged bladder. According to literature review, the most common genitourinary anomalies in patients with R179H ACTA2 mutation were hypocontractile bladder and hydronephrosis, rarely prune-belly syndrome (Table 1) (Amans et al, 2013, Ardhanari et al, 2020, Brodsky et al, 2014, Chen et al, 2019, D'Arco et al, 2018, Georgescu et al, 2015, Logeswaran et al, 2017, Milewicz et al, 2010, Moller et al, 2012, Moosa et al, 2013, Munot et al, 2012, Prabhu et al, 2017, Richer et al, 2012, Roulez et al, 2014, Rutledge et al, 2016, Sabo et al, 2020, She et al, 2021, Taubenslag et al, 2019, Yang et al, 2021, Yetman et al, 2015, Yeung et al, 2017.…”

Section: Gastrointestinal and Genitourinary Featuresmentioning

confidence: 99%

Neonatal diagnosis of ACTA2‐related disease: A case report and review of literature

Lupo

Gregorio

Mastrogiorgio

et al. 2023

American J of Med Genetics Pt A

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Multisystemic smooth muscle dysfunction syndrome (MSMDS, OMIM # 613834) is a rare autosomal dominant condition caused by pathogenetic variants of ACTA2 gene that result in impaired muscle contraction. MSMDS is characterized by an increased susceptibility to aneurismal dilatations and dissections, patent ductus arteriosus, early onset coronary artery disease, congenital mydriasis, chronic interstitial lung disease, hypoperistalsis, hydrops of gall bladder, and hypotonic bladder. Here, we report an early diagnosis of a MSMDS related to ACTA2 p.Arg179His (R179H) mutation in a newborn and performed a review of the literature. An early diagnosis of MSMDS is extremely important, because of the severe involvement of cardiovascular system in the MSMDS. Multidisciplinary care and surveillance and timely management of symptoms are important to reduce the risk of complications.

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Extracorporeal Life Support in Multisystem Smooth Muscle Dysfunction Syndrome

Cited by 4 publications

References 7 publications

Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations

Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations

Multisystem smooth muscle dysfunction syndrome in a Chinese girl: A case report and review of the literature

Neonatal diagnosis of ACTA2‐related disease: A case report and review of literature

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