Vascular EDS leads to heart problem in woman after birth: Case report
Papillary muscle rupture likely caused by vascular EDS, researchers say
A 28-year-old woman presented with spontaneous papillary muscle rupture (PMR), a potentially fatal heart complication, likely caused by vascular Ehlers-Danlos syndrome, a few days after giving birth.
According to researchers, this is the first reported case of rupture of two papillary muscles, which are critical for the function of heart valves, caused by EDS after childbirth.
They also noted that this case highlights the “incidence of PMR in the [period surrounding childbirth], and its association with connective tissue disorders such as Ehlers-Danlos Syndrome.”
The report, “Spontaneous Dual Papillary Muscle Rupture in a Postpartum Patient with Ehlers-Danlos Syndrome,” was published in the Journal of Cardiothoracic and Vascular Anesthesia.
Ehlers-Danlos syndrome (EDS) refers to a group of genetic disorders affecting the connective tissues that provide support to joints, skin, blood vessels, and other tissues and organs in the body.
Vascular EDS, a form of the disease affecting blood vessels and internal organs, is typically considered the most severe form of EDS, as it’s associated with an increased risk of serious bleeding.
PMR is rare, life-threatening event in which the rupture of the heart’s papillary muscles leads to acute mitral valve regurgitation — a condition in which the mitral valve on the left side of the heart does not close properly, causing blood to flow backwards.
PMR usually occurs as a complication in patients who recently experienced a heart attack. However, it can also occur spontaneously, as a result of infections, heart disease, or trauma.
Underlying vascular EDS led to papillary muscle rupture
In this report, researchers described the case of a 28-year-old woman who developed PMR as a result of underlying vascular EDS following the birth of her child.
The woman went to the emergency room 10 days after delivery with acute shortness of breath and chest pain. She experienced no problems in her pregnancy until a preterm rupture of membranes at 34 weeks prompted the spontaneous delivery of her child. Preterm rupture of membranes is the medical term for the rupture of the amniotic sac enveloping the fetus before labor begins.
A physical examination revealed she had low blood pressure and a fast heart rate. Additional tests also revealed the presence of heart rhythm abnormalities.
A CT angiography, a test used to produce detailed images of blood vessels and tissues, revealed alterations compatible with pulmonary edema — a condition in which fluid builds up in the lungs, interfering with a person’s ability to breathe.
She was put on noninvasive ventilation, and later required intubation, as her respiratory condition continued to decline. She also received medications to treat her low blood pressure and high heart rate.
An echocardiography (heart ultrasound) revealed the patient had severe mitral valve regurgitation. This, together with other observations, raised the concern of papillary muscle rupture.
She required extracorporeal oxygenation (ECMO), a procedure where blood is pumped outside of the body to a heart-lung machine that removes carbon dioxide and sends oxygen-rich blood back to the body. This procedure requires surgery to connect a patient’s blood vessels to the external machine.
During surgery, doctors confirmed that two papillary muscles had ruptured, leading to mitral valve regurgitation. The damaged mitral valve was then replaced by a bioprosthetic one.
The patient underwent three more surgeries over the next five days, during which several blood clots were found in the heart’s left upper chamber and surrounding the bioprosthetic mitral valve.
She was treated with anticoagulants, and later underwent an additional procedure to remove blood clots, which improved the function of the mitral valve.
Complications and a slow recovery
Two weeks after her initial presentation, she was removed from the ECMO machine and extubated. Her recovery was slow and marked by several complications.
Her symptoms and disease course made doctors suspect that an underlying connective tissue disorder could have contributed to PMR. This suspicion was reinforced by information provided by the family that she had hypermobile joints and bruised easily.
Genetic testing revealed she had a mutation in the COL3A1 gene, confirming the diagnosis of vascular EDS.
One month after the patient was first seen at the hospital, she left intensive care. After a total of seven weeks at the hospital, she was transferred to an inpatient rehabilitation unit, where she made a full recovery.
Although doctors acknowledged that other conditions might have contributed to PMR in her case, they considered that “what was likely, however, was that the patient’s undiagnosed connective tissue disorder, combined with the hormonal changes … [associated with pregnancy] contributed to the development of dual PMR.”
“Fortunately, after a protracted and highly complicated hospital stay, the patient fully recovered and continues to function well today,” they wrote.