Key result
Gene sequencing reveals pathogenic SMAD4 mutation, correcting suspected Marfan syndrome to Myhre syndrome.
Why the study?
Myhre syndrome caused by SMAD4 mutation is a rare multisystem disorder often misdiagnosed as Marfan syndrome due to overlapping clinical phenotypes, highlighting the need for accurate differential diagnosis.
Case Report (n=1)
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Supports targeted SMAD4 testing to avoid Marfan misdiagnosis in atypical CHD cases; leaves open validation in larger cohorts.
A 32-month-old girl with patent ductus arteriosus, false tendon of left ventricle, mild pulmonary hypertension, and chronic cardiac insufficiency (cardiac function level I-II) was misdiagnosed with Marfan Syndrome and there was no improvement in her physical growth after operation for this disease. The preterm baby was finally diagnosed with Myhre Syndrome by clinical phenotypes and mutation of SMAD4 gene.
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Li et al. (2021) conducted a case report in Myhre Syndrome (n=1). SMAD4 gene mutation (c.1498A>G) was evaluated. Reassessment of clinical phenotypes and comprehensive gene sequencing identified a pathogenic SMAD4 mutation, successfully correcting a misdiagnosis of Marfan Syndrome to Myhre Syndrome.
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