An unusual case of intravenous leiomyomatosis involving the right atrium

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An unusual case of intravenous leiomyomatosis involving the right atrium

Imagine feeling chest tightness, shortness of breath, and sudden blurry vision—only to discover a rare tumor has traveled from your pelvis all the way to your heart. That’s exactly what happened to a 48-year-old woman in China, whose case highlights a little-known condition called intravenous leiomyomatosis (IVL) and the importance of early detection for rare diseases.

The Patient’s Story

The woman had been struggling with three key symptoms for three months: chest distress, shortness of breath, and amaurosis fugax (temporary vision loss from reduced blood flow to the eye). Her symptoms worsened dramatically in the week before she sought care. A physical exam found a diastolic rumbling murmur (an abnormal heart sound) when she sat down, but her vital signs were stable, and blood tests came back normal.

How Doctors Diagnosed the Tumor

To find the cause of her symptoms, doctors used three imaging tests:

  1. Cardiac ultrasound (GE VIVID E9): Revealed a 78×38mm mass in her right atrium (the upper chamber of the heart) that moved back and forth through the tricuspid valve (between the right atrium and ventricle) with each heartbeat. The mass also extended into the inferior vena cava (the large vein that carries blood from the lower body to the heart).
  2. Gynecologic ultrasound (Siemens ACUSON S2000): Found a 132×131×98mm cyst-solid mass in her pelvis.
  3. MRI (Siemens Skyra 3.0T): Confirmed the tumor had spread from her pelvic veins (internal/external iliac, common iliac) up through the inferior vena cava to her right atrium.

Two Surgeries to Remove the Tumor

The woman underwent a two-stage operation to remove the tumor completely:

  1. First stage (cardiac/vascular surgery): Surgeons used extracorporeal circulation (a heart-lung machine) to remove a 6×6×3cm mass from her right atrium. Pathologists examined the tissue and found fusiform (spindle-shaped) smooth muscle cells arranged in bundles—signs of an angioleiomyoma (a benign vascular tumor). Immunohistochemical tests (which use markers to identify cell types) showed the tumor was negative for nerve or skin cells (S-100, CKP) but positive for muscle markers (Desmin, SMA) and blood vessel markers (CD31, CD34).
  2. Second stage (gynecologic surgery): The woman had a panhysterectomy (removal of the uterus and cervix), bilateral salpingo-oophorectomy (removal of both fallopian tubes and ovaries), and myomectomy (tumor removal) of the inferior vena cava. Surgeons took out two 30-cm-long masses from her vein. This time, pathology confirmed intravenous leiomyomatosis (IVL): spindle-shaped tumor cells arranged in a knit-like pattern with rare cell division (mitotic figures). Hormone receptor tests showed the tumor was 75% positive for estrogen (ER) and progesterone (PR) receptors—linking it to the uterus.

What Is Intravenous Leiomyomatosis (IVL)?

IVL is an extremely rare benign tumor that grows within veins. It almost exclusively affects women aged 33–54 (average 44 years), most of whom have a history of uterine fibroids or hysterectomy. The tumor usually starts in the uterus and spreads into pelvic veins, but it can grow upward through the inferior vena cava to the heart—like in this case.

Why Is IVL Hard to Diagnose?

Early on, IVL often has no symptoms. As the tumor grows, symptoms depend on where it is:

  • Pelvic involvement: Pain, pressure, or heavy bleeding.
  • Venous obstruction: Swelling in the legs.
  • Heart involvement: Chest pain, shortness of breath, or even fainting (from blocked blood flow).

How Is IVL Treated?

Surgery is the only curative option—doctors must remove all visible tumor. Because IVL can recur in up to 30% of cases, long-term follow-up (imaging, blood tests) is critical. Hormone therapy (e.g., tamoxifen, GnRHa) is sometimes used to target ER/PR receptors, but its effectiveness isn’t proven yet.

Key Takeaways from This Case

This woman’s story shows why early detection and a multidisciplinary team (cardiologists, gynecologists, surgeons, pathologists) are essential for IVL:

  • If imaging finds a pelvic/uterine mass with venous extension, IVL should be at the top of the list.
  • Surgery must be aggressive to prevent recurrence.
  • Even with successful surgery, patients need regular check-ups to watch for the tumor coming back.

After 9 months of follow-up, the woman had no signs of recurrence—a positive outcome thanks to timely diagnosis and treatment.

Original Research Citation

This case was reported by Min Li, Chen Guo, Yong-Hui Lyu, Ming-Bo Zhang, and Zhi-Lu Wang from the Department of Cardiology at the First Hospital of Lanzhou University in Lanzhou, China. The study was published in the Chinese Medical Journal in 2019.

doi.org/10.1097/CM9.0000000000000082

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