X-Linked PVNH caused by FLNA loss-of-function mutation

X-Linked Periventricular Nodular Heterotopia (X-Linked PVNH), formally known as PVNH1, has proven,in certain individuals to cause complications from mild to severe, often involving multiple organs.

Its implication sometimes contribute to :

  • Seizures: It is estimated that up to 90% of affected individuals will experience seizures.
  • Interstitial lung disease in children and adults, ranging from mild to severe where treatments, including on rare occasions a double lung transplant, may be required;
  • Cardiovascular findings such as patent ductus, thoracic aortic dilation, aneurysm and valvular anomalies among other issues;
  • Gastric malformations such as short bowel syndrome and intestinal pseudoobstruction;
  • Blood disorder such as Macrothrombocytopenia.

X-Linked PVNH can also happen in conjunction with other rare disorders, for example connective tissue disorders such as Ehlers Danlos Syndrome. It may involve cognitive difficulties.

If X-Linked PVNH is suspected by your care provider, please reach out. To find out more about X-Linked PVNH, visit