Spontaneous Coronary Artery Dissection and Papillary Muscle Rupture in Patient With Undiagnosed Vascular Ehler-Danlos Syndrome.

We present the case of a woman with acute coronary syndrome on the basis of spontaneous coronary artery dissection causing a papillary muscle rupture with severe mitral regurgitation and acute heart failure. The patient subsequently underwent successful emergent surgery of both the mitral and tricuspid valves. Postoperatively, the patient was diagnosed with vascular Ehlers-Danlos syndrome. (Level of Difficulty: Advanced.).

History of Presentation

A 61-year-old woman presented to the emergency department with retrosternal chest pain that had subsided on arrival. The initial work-up was unremarkable, with normal electrocardiogram and laboratory test results. Computed tomography ruled out proximal aortic dissection but showed a dissection of the right renal artery. She developed recurrent chest pain with anterior ST-segment depressions consistent with posterior ST-segment elevation myocardial infarction. Coronary angiography showed a spontaneous coronary artery dissection (SCAD) in an obtuse marginal branch of the left circumflex artery, which was treated conservatively without intervention (Video 1, Figure 1). During angiography, she developed hypotension and pulmonary edema but was stabilized on diuretic agents and noninvasive positive pressure ventilation. A transthoracic echocardiogram was done with poor image quality, unable to diagnose the patient’s condition. She was moved to a cardiac intensive care unit with persistent shortness of breath and hypotension and was treated with antibiotics because of suspicion of pneumonia and intermittent noninvasive positive pressure ventilation for a total of 10 days before she started to deteriorate with worsening hypotension. A renewed echocardiogram now gave the diagnosis of posteromedial papillary muscle rupture with severe mitral regurgitation, most likely caused by the dissected obtuse marginal branch (Videos 2, 3, and 4). The patient was accepted for emergent mitral valve surgery the following day.

Figure 1

Coronary Angiogram

Coronary angiogram showing a spontaneous coronary artery dissection in the obtuse marginal branch of the left circumflex artery (arrow).

Learning Objectives

To highlight the specific risk factor profile of patients with SCAD.

To understand the role of vEDS in cardiac disease and the difficulties in surgical management of these patients because of tissue fragility.

Past Medical History

The patient had no known risk factors for coronary artery disease. Her past medical history included hypothyroidism, fibromyalgia and longstanding problems with pain from joints and muscles, and a history of bruising easily. She had no children of her own.

Differential Diagnosis

The patient presented with acute coronary syndrome (ACS) on the basis of SCAD, which is an underrecognized but important cause of ACS, particularly among women with a low prevalence of traditional cardiovascular risk factors. The true prevalence is uncertain, but recent studies suggest SCAD may be the cause of 1% to 4% of all ACSs and up to 35% of ACSs in women ≤50 years of age. Numerous conditions have been associated with SCAD, the most common being fibromuscular dysplasia. Other inherited disorders associated with arterial fragility and dissection, such as vascular Ehlers-Danlos syndrome (vEDS), Marfan syndrome, and Loeys-Dietz syndrome, have also been implicated as risk factors for SCAD, although these are rare and underlie no more than 5% of all cases.

Papillary muscle rupture is a rare but life-threatening condition most often associated with ACS. Nonischemic ruptures are more infrequent but have been reported in conditions such as myocarditis, endocarditis, EDS, takotsubo cardiomyopathy, and mitral annular calcification.

Management

Before surgery and induction of anesthesia, the patient was hypotensive with clinical pulmonary edema. Surgery was performed through a median sternotomy, and upon entry, 1,500 mL of pleural fluid was evacuated. The patient was cannulated in the ascending aorta and separately in both venae cavae. At this point, there was an obvious increased fragility of the right atrial tissue because it partly ruptured upon cannulation. Cardiopulmonary bypass was started, and cardioplegia, both antegrade and retrograde, was administered. The left atrium was opened in the interatrial groove, and the mitral valve diagnosis was confirmed, showing a flail head of a papillary muscle in the A2-A3 region with entangled chordae (Figure 2). The valve was deemed irrepairable because of the excessive tissue fragility. The anterior mitral leaflet was entirely excised, and a mechanical mitral valve (ATS Medical Open Pivot 29 mm, Medtronic) was implanted. In addition, a tricuspid ring annuloplasty (CE Physio Tricuspid 32 mm, Edwards Lifesciences) was performed. Weaning from cardiopulmonary bypass, decannulation, and administration of protamine sulfate was uneventful, but in the final stage of the operation, there was a sudden and spontaneous rupture of the large brachiocephalic vein in the cephalad portion of the wound cavity with profuse bleeding requiring multiple sutures.

Figure 2

Excised Anterior Leaflet

Excised anterior leaflet of the mitral valve with a ruptured papillary muscle head.

The postoperative period was complicated with atrial fibrillation, the need for permanent pacemaker implantation, pneumothorax treatment, and prolonged antibiotic therapy. The patient required 5 days in the intensive care unit and was finally discharged 23 days after surgery in good condition.

Investigations

Preoperative transthoracic and transesophageal echocardiography confirmed a hyperdynamically contracting left ventricle and a severe mitral regurgitation on the basis of a flail anterior mitral leaflet with a 1.5-cm mass on the atrial side representing the papillary muscle head (Videos 5 and 6). In addition, systolic right ventricular pressure was 85 mm Hg, and a severe tricuspid regurgitation was present, necessitating double valve surgery. Postoperative echocardiography showed normal left ventricular function, a well-functioning mitral prosthesis, and remaining mild tricuspid regurgitation.

Because of spontaneous dissections of both the right renal and a coronary artery, the patient was further evaluated for connective tissue disorder after discharge. Genetic analysis showed a variant in COL3A1, c.2555G>T, p.(Gly852Val) [NM_000090.3]. To our knowledge, this variant has not been described before in the literature, although another amino acid exchange in the same codon has been defined as pathogenic. The variant was defined as likely pathogenic, and the patient was diagnosed with vEDS.

Discussion

We present the case of a woman with spontaneous dissections in both the right renal artery and a branch of the left circumflex artery, with the latter causing ACS, papillary muscle rupture with severe mitral regurgitation, and acute heart failure. The patient underwent successful surgery of both the mitral and tricuspid valves in a procedure complicated by remarkable tissue fragility. Postoperatively, the patient was diagnosed with vEDS, with genetic analysis showing a novel variant in COL3A1.

vEDS is a rare genetic disorder of connective tissue with a prevalence of 1/50,000 to 1/200,000. It is an autosomal dominant disorder caused by pathogenic variants of the COL3A1 gene, which encodes type III collagen. The diagnosis requires genetic testing, but clinical signs such as easy bruising, early onset of varicose veins, and characteristic facial features can raise the suspicion. It is a potentially life-threatening condition, with increased risk of visceral rupture as well as vascular aneurysm, dissection, and rupture. There is no established medical treatment in vEDS, but studies have suggested that treatment with celiprolol, a cardioselective β1 blocker with a vasodilatory effect, may reduce the frequency of arterial events. The patient had no relatives with known vEDS, but approximately 50% of all patients have a de novo mutation, making it possible that she was the first in her family with vEDS.

There are reports of SCAD in patients with vEDS, although this is a relatively rare complication, with dissections primarily affecting medium to large arteries. There are 2 reported cases of papillary muscle rupture in patients with vEDS; both were nonischemic and presented in the postpartum period., The authors found only 1 prior report of successful surgery of the mitral valve in vEDS, with surgical repair being technically challenging because of tissue and vascular fragility. This is, to the best of our knowledge, the first reported case of a patient with vEDS with papillary muscle rupture caused by SCAD undergoing successful surgery of both the mitral and tricuspid valves.

Follow-Up

The patient was started on celiprolol, and follow-up has been uneventful, with no further vascular events.

Conclusions

The case highlights the importance of considering SCAD in patients with ACS without traditional cardiovascular risk factors. The SCAD in the presented case subsequently caused an ischemic papillary muscle rupture, necessitating emergent surgery of the mitral and tricuspid valves, which proved to be technically challenging because of tissue fragility related to the patient’s underlying vEDS. This further highlights the importance of considering disorders of tissue and vascular fragility in patients with spontaneous artery dissections, because this has important implications for surgical management.

Funding Support and Author Disclosures

The authors have reported that they have no relationships relevant to the contents of this paper to disclose.