Hemodynamic Consequences of a Swinging, Infarcted Ventricular Septum

Otsuka, Masaya; Yamamoto, Hideya; Criley, J. Michael; Oba, Osamu; Hisamochi, Kunikazu; Okimoto, Tomokazu; Tasaki, Naohito; Hirai, Yukoh; Ochi, N.; Ohnishi, Mayu; Kohno, Nobuoki

doi:10.1253/circj.70.634

Cited by 2 publications

(2 citation statements)

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“…show ventricular septum aneurysms more frequently (Otsuka et al, 2006). This finding has a relevant importance in long-term follow-up, being IASA associated with a higher risk for cerebrovascular events (Gallet et al, 1985).…”

Section: Discussionmentioning

confidence: 90%

“…To the best of our knowledge, the present subject represents the first report of MRAS ‐related NS who shows mild cardiac involvement (IASA and mild mitral valve prolapse). IASA is an unusual CHD; it has rarely been seen in NS subjects, who show ventricular septum aneurysms more frequently (Otsuka et al, 2006). This finding has a relevant importance in long‐term follow‐up, being IASA associated with a higher risk for cerebrovascular events (Gallet et al, 1985).…”

Section: Discussionmentioning

confidence: 99%

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Natural history of MRAS‐related Noonan syndrome: Evidence of mild adult‐onset left ventricular hypertrophy and neuropsychiatric features

Priolo

Mancini

Radio

et al. 2023

American J of Med Genetics Pt C

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Gain of function pathogenic variants in MRAS have been found in a small subset of pediatric subjects presenting with Noonan syndrome (NS) associated with hypertrophic cardiomyopathy (HCM) and moderate to severe intellectual disability. These variants are considered to confer a high‐risk for the development of severe HCM with poor prognosis and fatal outcome. We report on the natural history of the first adult subject with NS carrying the recurrent pathogenic p.Thr68Ile amino acid substitution. Different from what had previously been observed, he presented with a mild, late‐onset left ventricular hypertrophy, and a constellation of additional symptoms rarely seen in NS. The present case provides evidence that HCM does not represent an obligatory, early‐onset and severe complication in subjects with MRAS variants. It also adds new data about late‐onset features suggesting that other unexpected complications might be observed in adult subjects providing anticipatory guidance for individuals of all age.

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Section: Discussionmentioning

confidence: 90%

Section: Discussionmentioning

confidence: 99%