Obstructive accessory mitral valve tissue in an adult patient: a case report

Accessory mitral valve tissue (AMVT) is a rare congenital cardiac malformation that sometimes causes left ventricular outflow tract (LVOT) obstruction and is commonly associated with other congenital cardiac anomalies [1]. It is usually present in childhood causing LVOT obstruction. Such an obstruction leads to chest pain, effort syncope, or recurrent transient ischemic attack/stroke. The number of adults affected by such a disease is one per 26,000 echocardiograms [2].

The first case of this rare condition was described in the literature in 1842 [3], whereas the first surgical treatment was described in 1963 [4]. The majority of patients who were reported to have varying degrees of LVOT obstruction were diagnosed with AMTV during the first 10 years of their life. However, LVOT was rarely detected in adulthood [5].

Here is a case report of an adult patient with AMVT, whose disease developed a severe obstruction of LVOT.

A 72-year-old Caucasian man, suffering chest pain, visited our emergency department after being diagnosed as having dyspnea. The dyspnea started 3 months ago and deteriorated the week before visiting our emergency department. His dyspnea occurred with moderate exertion without any associated symptoms. His chest pain was atypical with some parietal characteristics. He was a heavy tobacco smoker with no medical history and with no chronic medications prescribed. However, hypertension seemed to have run in his family.

A physical examination revealed severe systolic murmur in the aortic area radiating toward the left parasternal space, becoming fainter at the apex. Blood pressure was symmetric, measuring 155/75 mmHg, pulse rate was 95 beats per minute (bpm). Lungs were clear on auscultation without crackles or abnormal sounds. A chest X-ray showed normal cardiac silhouette and aortic arch, and both lungs were clear and expanded with no infiltrates or pleural effusions. An electrocardiogram showed non-specific changes with T wave inversion on lateral leads and horizontal ST segment depression on V_4–6.

He was admitted to the coronary care unit to follow up on the process of examining his body functions. Transthoracic echocardiography (TTE) revealed an oval-like tissue with clean margins attached to the proximal portion of the anterior leaflet of the mitral valve causing LVOT occlusion during systole. The gradient pressure through LVOT measured 55 mmHg, without organic lesion in the aortic cusps. The left ventricle wall motion was normal. Dimensions at systolic and diastolic phases were normal. Pulmonary pressure was 18 mmHg. No other cardiac anomalies were present (Fig. 1b, c, Additional file 1: Video S1).

To obtain more detailed information, transesophageal echocardiography (TEE) was performed. This revealed a parachute-like structure (measuring 13 × 14 mm) attached to the proximal portion of the anterior leaflet of the mitral valve causing LVOT obstruction (Fig. 1a, Additional file 2: Video S2).

Metoprolol tartrate 50 mg twice daily was prescribed for our patient until the scheduled surgery. During hospitalization, multi-slice computed tomography (MS-CT) scan was performed. It emphasized the presence of the abnormal mass and its dimensions and location (Fig. 2).

He underwent coronary catheterization before the surgery. The angiography showed ostial lesion and severe stenosis in the mid left anterior descending (LAD) in addition to 80% stenosis in circumflex (CX), and the right coronary artery (RCA) had multi-sequential lesions beginning from the first segment (Fig. 3).

The surgery was delayed for a month due to a huge workload in the surgical department at that time. Since the case was rare and not fully understood by surgeons, it was classified as “cold case” in comparison to other on-list cases. Later on, our patient underwent coronary artery bypass graft (CABG) surgery and the abnormal tissue was surgically removed. The biopsy was sent to the pathology laboratory for further investigation (Fig. 4). The pathology report indicated a pure fibrous tissue with non-differentiated cells. Two weeks later, another TEE was done to assess the flow across the LVOT and the pressure gradient (PG) was normal. No residue of the abnormal tissue was seen. A timeline is shown in Table 1.

AMVT in adults is very rare and can mimic various causes of LVOT obstruction. While most cases are diagnosed in childhood, rarely do these cases happen in adulthood. Less than 30% of these anomalies occur in adults, two thirds of the patients were associated with other cardiac anomalies, and symptoms of LVOT obstruction developed early in the neonatal or childhood periods [1]. Although the underlying cause is still uncertain, it is suggested that AMVT results from an incomplete separation of the mitral valve from the endocardial cushion during cardiac development during embryogenesis [6]. Patients with AMVT anomaly may be asymptomatic but more frequently experience palpitations and fatigue [7].

Patients with AMVT become symptomatic when the mean gradient across the LVOT is more than 50 mmHg [2]. Severe obstruction is defined when LVOT gradient is over 50 mmHg, while the obstruction is defined as mild when the gradient is less than 31 mmHg [1]. AMVT has been variably described as sail-shaped, sac-like, balloon-like, parachute-like, and leaflet-like, or as a sheet, membrane, or pedunculated mass [8].

Despite the rarity of AMVT in adults, it should be kept in mind as part of the differential diagnosis of LVOT obstruction. Other LVOT masses that might cause obstruction include: myxoma, papillary fibroelastoma, and thrombus or vegetations, which can produce similar echocardiographic appearances. However, a detailed TTE and TEE can be used to differentiate them from AMVT [9]. Both TTE and TEE may help in the diagnosis, revealing possible associated lesions and complications [10]. Regarding treatment of this anomaly, cardiac surgery is indicated only in patients with significant LVOT gradients and those undergoing correction of other congenital cardiac defects in childhood or acquired disease if an adult. Surgery includes accessory tissue removal and, sometimes, artificial chordae implantation and annuloplasty, depending on the severity of the disease [11‐13].

Echocardiography is considered to be the cornerstone investigation tool when assessing an aortic valve stenosis regardless of the cause. Significant LVOT obstruction happens when the PG exceeds 50 mmHg through LVOT flow and surgery is the only treatment in this severe status. However, conservative therapy is indicated for PG less than 50 mmHg except when the lesion is associated with other congenital defects. Finally, when facing such a case in the future, it is recommended to make a more rapid surgical response.