MYH11-Related Hereditary Type 2 Visceral Myopathy in a Large Kindred: Diagnostic Odyssey With Milder Clinical Manifestations.
Jai Kumar Rajavoor Muniswamy, Elise Van Zele, Ali Agely et al.
✦ AI-curated · Sources linked
Case in brief
A 73-year-old woman had lifelong gastrointestinal and urinary dysfunction, including chronic constipation, neurogenic bladder, recurrent urinary tract infections, gastroparesis, and pelvic organ prolapse. Similar visceral smooth muscle abnormalities in 14 relatives across five generations suggested autosomal dominant inheritance. Whole-genome sequencing found a heterozygous likely pathogenic MYH11 variant, c.5819del; p.(Pro1940HisfsTer91), supporting a diagnosis of autosomal dominant type 2 visceral myopathy. The variant is associated with an abnormally elongated myosin-heavy chain that disrupts contractile function. She had survived into her eighth decade with long-term clinical stability, possibly reflecting a milder variant effect.
What made this case unusual
The patient’s late age and relatively mild, stable course contrast with the disorder’s typical presentation in infancy with severe gastrointestinal and genitourinary dysfunction.
Diagnostic / clinical pearl
In lifelong multisystem visceral smooth muscle dysfunction, a multigenerational family history can point to autosomal dominant inheritance; genetic testing can establish a specific MYH11-related diagnosis.
Why it matters
The case expands the described clinical spectrum of MYH11-associated visceral myopathy and supports genetic evaluation for diagnosis and informed counseling in complex phenotypes.