Ann Thorac Cardiovasc Surg Advance Published Date: March 10, 2022

CaseReportdoi: 10.5761/atcs.cr.21-00214

A Patient with Werner’s Syndrome Who
Underwent Aortic Valve Replacement
through Minimally Invasive Cardiac Surgery
Riki Sumiyoshi, Hideki Morita, Sho Kusadokoro, Kento Fujii, Hiroyuki Kawaura,
Masakazu Aoki, and Hiroshi Nagano

Werner’s syndrome (WS) is a genetic disorder presenting with premature senility. In thepresent study, we performed minimally invasive cardiac surgery (MICS)-aortic valvereplacement (AVR) on a patient with Werner’s syndrome who presented with aortic stenosis.
The patient, a 49-year-old Japanese man, was brought to the emergency room with dyspnea during exercise. On echocardiography, severe aortic stenosis was found and surgery
was planned. He had poorly controlled diabetes mellitus and underwent MICS-AVR to
avoid the risk of sternal osteomyelitis, which resulted in a good outcome. The aortic valve
had sclerotic changes and a genetic disease was suspected based on the onset of aortic
stenosis at a young age, characteristic appearance, and various signs of aging. Genetic
testing led to the diagnosis of WS.
Keywords: Werner’s syndrome, MICS-AVR

Introduction

Case Report

Werner’s syndrome (WS), an autosomal recessive
genetic disease, was initially reported by Otto Werner in1904. It is a progeroid syndrome because several progeroid signs, such as gray hair and cataracts, become
apparent after adolescence. This is review of the pertinent literature and a case report of a patient with WS
who experienced aortic valve stenosis and received minimally invasive cardiac surgery (MICS) for aortic valve
replacement (AVR).

A 49-year-old man experienced dyspnea during exercise and was transferred to a local clinic. A cardiac murmur
was detected, and cardiac ultrasound revealed aortic valve
stenosis. The patient was referred to our hospital for further
examination and treatment. Surgery was indicated because
he was diagnosed with severe aortic valve stenosis (maximum blood flow velocity, 4.99 m/s; pressure gradient[PGAV], 61.9 mmHg; aortic valve area, 0.46 cm2).
Outpatient examination revealed a high-pitched hoarse
voice, a bird-like facies (Fig. 1), and generalized skin
atrophy. At 40 years of age, the patient presented to an
otolaryngologist and was diagnosed with hoarse voice
caused by type 2 sulcus vocalis according to the classification of Ford. Transplantation of fascia into the vocal
fold and thyroplasty were performed at the ages of 40 and45, respectively. However, the hoarse voice persisted.
Blood tests showed diabetes mellitus with poor glycemic control (hemoglobin A1c [HbA1c], 12.7%). The
patient had a history of bilateral cataracts, dyslipidemia,
and a refractory plantar ulcer. Cardiac catheterizationdid not show any significant coronary artery lesions.

Department of Cardiovascular Surgery, Saitama Red Cross Hospital,Saitama, Saitama, Japan
Received: September 21, 2021; Accepted: January 29, 2022
Corresponding author: Riki Sumiyoshi. Department of Cardiovascular Surgery, Saitama Red Cross Hospital, 1-5 Shintoshin,
Chuo-ku, Saitama, Saitama 330-8553, Japan
Email: rikinista2120@gmail.com
This work is licensed under a Creative
Commons Attribution-NonCommercialNoDerivatives International License.
©2022 The Editorial Committee of Annals of Thoracic andCardiovascular Surgery

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Ann Thorac Cardiovasc Surg Advance Published Date: March 10, 2022
Sumiyoshi R, et al.

Fig. 1A bird-like face and gray hair. The Photos are published with the patient’s permission.

AB

AoLV

Fig. 2 (A) CT scan showing calcification of the STJ. (B) High degree of calcification of the aortic valve
leaflets and cusps on echocardiography. CT: computed tomography; STJ: sinotubular junction; LV:
left ventricle

Computed tomography and cardiac ultrasound showed
severe calcification in the sinotubular junction, aortic annulus,
and valve leaflets, despite the patient’s young age (Figs. 2Aand 2B). The patient had no noteworthy family history.
To maintain blood glucose levels between 150 mg/dL
and 200 mg/dL, the patient was hospitalized to receive
intensive insulin therapy for 1 week prior to surgery.
AVR was performed by MICS through a right minithoracotomy. With the patient in the left lateral decubitus
position, extracorporeal circulation was initiated with avenous cannula inserted into the right femoral artery and anarterial cannula inserted into the femoral vein. Thoracotomy
was performed via an approach from the third intercostal2

space of the right anterior chest. Aortotomy was performed
using cardioplegia. The aortic valve was tricuspid with
senile changes including sclerotic changes associated withsignificant calcification in the valve cups and annulus(Fig. 3). The aortic valve was resected, and the calcificationin the annulus was removed by using ultrasonic sonopet
with a knife. A prosthetic valve (23 mm Mosaic; Medtronic,Dublin, Ireland) was sutured with 12 stitches using a braided
suture accompanying a 5-mm spaghetti-type accessory(2-0 in diameter; Wayolax; Matsuda Ika Kogyo Company,Tokyo, Japan) via everting mattress. The postoperative
course was uneventful, and the patient was discharged on
postoperative day 18.

Ann Thorac Cardiovasc Surg Advance Published Date: March 10, 2022
A Patient with WS Treated with MICS-AVR

Fig. 3 Sclerotic changes in the aortic valve.

Fig. 4 Calcification of the Achilles tendon.

Genetic disease was suspected based on the patient’s
medical history and severe aortic valve stenosis due to sclerotic changes, although he was young. Ankle radiography
showed calcification of the Achilles tendon (Fig. 4), and thepatient’s radiographic findings correlated with the major
signs of the diagnostic criteria for WS. Subsequently,genetic testing was performed; the results showed a homozygous mutation 4, and the patient was diagnosed with WS.

Discussion
Werner’s syndrome, a type of progeria and a rare
genetic disease, was initially reported by Otto Werner in1904. In Japan, there are approximately 2000 patientswith WS, which accounts for two-thirds of all cases
globally. No therapeutic methods are currently available.
In patients with WS, arteriosclerotic disease and malignant tumors are the two main causes of death, and thepatients’ mean life expectancy is 54 years.1)
The main signs of Werner’s syndrome are (1) progeroid hair changes (gray hair and baldness), (2) bilateral cataracts, (3) skin atrophy/skin sclerosis (corns andcallus), (4) refractory ulceration, (5) calcification of soft
tissues (e.g., the Achilles tendon), and (6) a bird-likefacies. Other signs of WS include (a) high-pitched hoarse
voice, (b) abnormal glucose and lipid metabolism, (c)bone disorders such as osteoporosis, (d) nonepithelial
tumors and thyroid cancer, (e) consanguineous marriage,(f) early-onset arteriosclerosis, (g) primary hypogonadism, and (h) short stature and low weight. Patients who
have all main signs or who meet ≥3 main signs and havethe gene mutation are definitively diagnosed with Werner’s syndrome.2) Since our patient met all main signs
and genetic testing revealed changes specific to the syndrome, he was diagnosed with WS.
A literature search was performed on articles published between 1994 and 2019 regarding patients with
WS who underwent aortic valve stenosis repair, which
identified only 6 patients.3–8) Ages ranged from 18 to 66years. The types of valves were a homograft (1 patient),
bioprosthesis (1 patient), transcatheter aortic-valve
implantation (TAVI) (1 patient), and mechanical aorticvalve (3 patients). Median sternotomy was performed on
all patients except for the patient receiving a TAVI. No
patient underwent MICS.
Severe diabetes mellitus develops in some patients with
WS. To prevent this complication, our patient receivedtreatment; however, he experienced diabetes mellitus withpoor glycemic control (HbA1c, 12.7%). Although, glycemic control was accomplished in the hospital preoperatively, there was concern over the risk of sternal
osteomyelitis following median sternotomy.9) Thus, MICS
was performed through a right mini-thoracotomy, which
prevented the risk of sternal osteomyelitis.
Mechanical valves are generally preferred at thepatient’s age. Considering that this patient presented
with severe diabetes mellitus, severe systemic arteriosclerosis, and various comorbidities that had developed
from a young age, these conditions were considered
likely to cause diseases such as embolism and hemorrhage in the future. At that time, we predicted that it
would be difficult to continue anticoagulant therapy for3

Ann Thorac Cardiovasc Surg Advance Published Date: March 10, 2022
Sumiyoshi R, et al.

the mechanical valve or that anticoagulant therapy
would interfere with the treatment. Therefore, a bioprosthetic valve was selected with the patient’s consent.
The patient was diagnosed with WS after surgery; however, it was our understanding that selecting a bioprosthetic valve was appropriate, owing to the prognosis of
this disease.
A bioprosthesis was used as a prosthetic valve inaccordance with the patient’s request. If the valve deteriorates in the future, TAVI treatment is considered to be
the first choice. Since the patient has no history of mediansternotomy, there are no concerns about sternal adhesion, thus preventing secondary damage and reducing
the risk if valve implantation is required in the future.
AVR through MICS may be an extremely effective
treatment method for Werner’s syndrome.

References
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Conclusion
In this study, AVR was performed through MICS on apatient with WS who experienced aortic valve stenosis,
which resulted in a favorable outcome.

7)
8)Disclosure Statement
There are no competing or conflicts of interest in relation to the submitted manuscript.

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9)

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