Congenital ductus arteriosus aneurysm in association with <i>MYH11</i> mutation: a case report

Ardhanari, Mohanageetha; Swaminathan, Sethuraman

doi:10.1017/s1047951119003287

Cited by 5 publications

(6 citation statements)

References 11 publications

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“…The patient is of interest for a novel heterozygous variant of MYH11, which manifested phenotypically as aortic aneurysm, Parkinson syndrome, and noncompaction. Whether the detected heterozygous MYH11 variant was actually responsible for the clinical manifestations remains speculative, but several previous studies reported that heterozygous MYH11 variants can be pathogenic (Table 1) [3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20]. Except for aortic aneurysm [7,8], the other clinical manifestations of the index patient were not reported in association with MYH11 variants.…”

Section: Discussionmentioning

confidence: 96%

“…Chromosomal rearrangements involving the MYH11 gene are associated with acute myeloid leukaemia and sarcoma [2]. Mutations in MYH11 are associated with multisystem disease, predominantly presenting as visceral myopathy (VM) [3], megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) [4,5], chronic intestinal pseudo-obstruction (CIPO) [6], and familial thoracic aortic aneurysm and dissection [7,8] but also with various other features [9][10][11][12][13][14][15][16][17][18][19][20]. Aortic aneurysm, noncompaction, also known as left ventricular hypertrabeculation (LVHT), and Parkinson syndrome have not been reported in association with MYH11 variants.…”

Section: Introductionmentioning

confidence: 99%

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Early Onset Parkinson Syndrome, Type A Aortic Aneurysm and Noncompaction Associated With the Novel Variant c.2225C>T in MYH11: A Case Report

Finsterer,

Mehri

2023

Cureus

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Aortic aneurysm, left ventricular noncompaction, and early onset Parkinson syndrome have not been reported in association with MYH11 variants. The patient is a 44-year-old male who developed a progressive ascending aortic aneurysm at age 30, requiring aortic repair at the age of 40. In addition, he developed Parkinson syndrome at the age of 37. He also suffered from myopia, hypothyroidism, arterial hypertension, hyperlipidemia, pre-diabetes, hyperbilirubinemia, obstructive sleep apnea syndrome (OSAS), and muscle cramps. Echocardiography and cardiac MRI showed left ventricular noncompaction. Genetic analysis revealed the novel heterozygous variant c.2225C>T (p.Ala742Val) in MYH11. Family history was positive for arterial hypertension (mother), carcinoma (brother), and diabetes (sister, father). There was consanguinity between the parents. With appropriate treatment, Parkinson syndrome and cardiac anomalies remained stable and there were no complications due to noncompaction or aortic repair. Considering that embryonic vascularisation may be involved in the pathophysiology of noncompaction and that MYH11 is expressed in the myocardium, a causal relationship between the MYH11 variant and noncompaction is conceivable.In conclusion, this is the first case showing an aortic aneurysm associated with noncompaction and Parkinson syndrome in a carrier of the novel, heterozygous variant c.2225C>T in MYH11. Carriers of MYH11 variants should be prospectively and systematically screened for multisystem diseases as soon as the genetic defect is discovered in order not to delay any necessary treatment. First-degree relatives should be screened for the MYH11 variant of a family member to track the trait of inheritance and confirm its pathogenicity.

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Section: Discussionmentioning

confidence: 96%

Section: Introductionmentioning

confidence: 99%

Early Onset Parkinson Syndrome, Type A Aortic Aneurysm and Noncompaction Associated With the Novel Variant c.2225C>T in MYH11: A Case Report

Finsterer,

Mehri

2023

Cureus

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“…Maybe a lot of asymptomatic or not serious complication DAAs would be missed. DAA may be observed in patients with connective tissue disorders such as Marfan, Ehlers-Danlos, and Larsen syndromes, Smith-Lemli-Opitz, Trisomy 13, and Trisomy 18, MYH11 mutation [ 3 , 5 – 7 , 10 , 12 ].…”

Section: Discussionmentioning

confidence: 99%

“…Congenital DAA may be identified in infants, children, and adults; published case reports suggest the most common age of diagnosis is less than 2 months. DAA may be observed in patients with connective tissue disorders such as Marfan [6] , Ehlers-Danlos and Larsen syndromes [ 5 , 10 ], Loeys-Dietz syndrome [12] , Smith-Lemli-Opitz, Trisomy 13, and Trisomy 18 [7] , MYH11 mutation [3] . We diagnosed a case of asymptomatic neonatal DAA.…”

Section: Introductionmentioning

confidence: 99%

Asymptomatic congenital ductus arteriosus aneurysm in a newborn: Case by approach

Huynh,

Pham,

et al. 2023

Radiology Case Reports

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“…Several theories have been postulated to explain the mechanism of congenital aneurysm formation of the ductus arteriosus [12,29,30]. The ductal aneurysm can resolve spontaneously without complications through the normal physiological constriction of the parietal wall of the duct at birth and or through a thrombus stratification inside the lumen with organization and incorporation of the thrombotic material and fibrotic occlusion [25].…”

Section: Introductionmentioning

confidence: 99%

Isolated Dissection of the Ductus Arteriosus Associated with Sudden Unexpected Intrauterine Death

Fedrigo

Visentin

Veronese

et al. 2021

JCDD

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We report five cases of sudden intrauterine death due to premature closure of the ductus arteriosus. In four cases, this was caused by dissecting the hematoma of the ductus arteriosus with intimal flap and obliteration of the lumen. In one case, the ductus arteriosus was aneurysmatic, with lumen occlusion caused by thrombus stratification. No drug therapy or free medication consumption were reported during pregnancy. The time of stillbirth ranged between 26 and 33 gestational weeks. We performed TUNEL analysis for apoptosis quantification. The dissecting features were intimal tears with flap formation in four of the cases, just above the origin of the ductus arteriosus from the pulmonary artery. The dissecting hematoma of the ductus arteriosus extended downward to the descending aorta and backward to the aortic arch with involvement of the left carotid and left subclavian arteries. TUNEL analysis showed a high number of apoptotic smooth muscle cells in the media in two cases. Abnormal ductal remodeling with absence of subintimal cushions, lacunar spaces rich in glycosaminoglycans (cystic medial necrosis), and smooth muscle cell apoptosis were the pathological substrates accounting for failure of remodeling process and dissection.

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Congenital ductus arteriosus aneurysm in association with MYH11 mutation: a case report

Cited by 5 publications

References 11 publications

Early Onset Parkinson Syndrome, Type A Aortic Aneurysm and Noncompaction Associated With the Novel Variant c.2225C>T in MYH11: A Case Report

Early Onset Parkinson Syndrome, Type A Aortic Aneurysm and Noncompaction Associated With the Novel Variant c.2225C>T in MYH11: A Case Report

Asymptomatic congenital ductus arteriosus aneurysm in a newborn: Case by approach

Isolated Dissection of the Ductus Arteriosus Associated with Sudden Unexpected Intrauterine Death

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