Jumping translocation involving chromosome 13q in a patient with Crohn's Disease and inv(16)(p13.1q22)/CBFB-MYH11 acute myeloid leukemia

Clarke, S.; Kraa, Rebecca De; Chuah, Hun; Creeper, Katherine; Leahy, Michael F.; Wright, Matthew

doi:10.1016/j.cancergen.2022.05.041

Cited by 2 publications

(1 citation statement)

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“…MYH11 functions as an important contractile protein and converts chemical energy into mechanical energy through the hydrolysis of ATP [1]. 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].…”

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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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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