Aortic valve replacement with annular patch enlargement for a patient with Werner’s syndrome and severe aortic stenosis

Handa, Kazuma; Fukui, Shinya; Shirakawa, Yukitoshi; Sakamoto, Tomohiko; Kitahara, Mutsunori; Kakizawa, Yumi; Nishi, Hiroyuki

doi:10.1186/s13019-020-01219-7

Cited by 3 publications

(3 citation statements)

References 4 publications

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“…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 66 years. The types of valves were a homograft (1 patient), bioprosthesis (1 patient), transcatheter aortic-valve implantation (TAVI) (1 patient), and mechanical aortic valve (3 patients).…”

Section: Discussionmentioning

confidence: 99%

A Patient with Werner’s Syndrome Who Underwent Aortic Valve Replacement through Minimally Invasive Cardiac Surgery

Sumiyoshi

Morita

Kusadokoro

et al. 2023

ATCS

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Werner’s syndrome (WS) is a genetic disorder presenting with premature senility. In the present study, we performed minimally invasive cardiac surgery (MICS)-aortic valve replacement (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.

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Section: Discussionmentioning

confidence: 99%

A Patient with Werner’s Syndrome Who Underwent Aortic Valve Replacement through Minimally Invasive Cardiac Surgery

Sumiyoshi

Morita

Kusadokoro

et al. 2023

ATCS

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“…Although metabolic diseases were sufficiently controlled overall, as life expectancy prolongs, appropriate medications must be selected to address potential side effects. Moreover, patients with severe aortic stenosis [ 46 , 47 ] and heart failure due to impaired coronary microcirculation with no coronary artery stenosis have been reported [ 48 ]. Therefore, a comprehensive evaluation of arteriosclerosis in patients with Werner syndrome is still needed.…”

Section: Discussionmentioning

confidence: 99%

Renal dysfunction, malignant neoplasms, atherosclerotic cardiovascular diseases, and sarcopenia as key outcomes observed in a three-year follow-up study using the Werner Syndrome Registry

Maeda

Koshizaka

Shoji

et al. 2023

Aging

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Werner syndrome is an adult-onset progeria syndrome that results in various complications. This study aimed to clarify the profile and secular variation of the disease. Fifty-one patients were enrolled and registered in the Werner Syndrome Registry. Their data were collected annually following registration. A cross-sectional analysis at registration and a longitudinal analysis between the baseline and each subsequent year was performed. Pearson's chi-squared and Wilcoxon signed-rank tests were used. Malignant neoplasms were observed from the fifth decade of life (mean onset: 49.7 years) and were observed in approximately 30% of patients during the 3-year survey period. Regarding renal function, the mean estimated glomerular filtration rate calculated from serum creatinine (eGFRcre) and eGFRcys, which were calculated from cystatin C in the first year, were 98.3 and 83.2 mL/min/1.73 m 2 , respectively, and differed depending on the index used. In longitudinal analysis, the average eGFRcre for the first and fourth years was 74.8 and 63.4 mL/min/1.73 m 2 , showing a rapid decline. Secular changes in Werner syndrome in multiple patients were identified. The prevalence of malignant neoplasms is high, and renal function may decline rapidly. It is, therefore, necessary to carry out active and detailed examinations and pay attention to the type and dose of the drugs used.

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“…On the other hand, in some cases, severe aortic stenosis, without the requirement of coronary intervention, has become a problem 79,80) . In addition, cases of heart failure due to impaired coronary microcirculation with no coronary artery stenosis have been reported 81) .…”

Section: Werner Syndromementioning

confidence: 99%

Atherosclerosis and Cardiovascular Diseases in Progeroid Syndromes

Kato

Maezawa

2022

JAT

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Hutchinson-Gilford progeria syndrome (HGPS) and Werner syndrome (WS) are two of the representative genetic progeroid syndromes and have been widely studied in the field of aging research. HGPS is a pediatric disease in which premature aging symptoms appear in early childhood, and death occurs at an average age of 14.5 years, mainly due to cardiovascular disease (CVD). Conversely, WS patients exhibit accelerated aging phenotypes after puberty and die in their 50s due to CVD and malignant tumors. Both diseases are models of human aging, leading to a better understanding of the aging-associated development of CVD. In this review, we discuss the pathogenesis and treatment of atherosclerotic diseases presented by both progeroid syndromes with the latest findings. Hutchinson-Gilford Progeria SyndromeHGPS is an ultra-rare autosomal dominant genetic premature aging syndrome that occurs in one in four to eight million births and causes death at an average age of 14.5 years due to myocardial infarction or stroke 4, 5) (Table 1). Because of the abnormal splicing of the LMNA gene on chromosome 1, the lamin A protein encoded by this gene cannot be normally produced, and an abnormal protein called progerin accumulates in the nucleus. The main symptoms are scleroderma-like skin, joint contractures, bone abnormalities, hair loss, growth retardation, and atherosclerotic diseases, such as myocardial infarction and stroke. Clinical Characteristics of HGPSInfants with HGPS are normal at birth, but the mean weight is slightly small for gestational age 4) . The first pathognomonic signs are prominent veins on the nose bridge, followed by growth retardation, hair loss, and reduced subcutaneous fat around 6 to 12 months, and the diagnosis is often made between 2 and 3 years Copyright©2021 Japan Atherosclerosis Society This article is distributed under the terms of the latest version of CC BY-NC-SA defined by the Creative Commons Attribution License.

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Aortic valve replacement with annular patch enlargement for a patient with Werner’s syndrome and severe aortic stenosis

Cited by 3 publications

References 4 publications

A Patient with Werner’s Syndrome Who Underwent Aortic Valve Replacement through Minimally Invasive Cardiac Surgery

A Patient with Werner’s Syndrome Who Underwent Aortic Valve Replacement through Minimally Invasive Cardiac Surgery

Renal dysfunction, malignant neoplasms, atherosclerotic cardiovascular diseases, and sarcopenia as key outcomes observed in a three-year follow-up study using the Werner Syndrome Registry

Atherosclerosis and Cardiovascular Diseases in Progeroid Syndromes

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