Fatal heart failure caused by severe pulmonary regurgitation, tricuspid regurgitation and late-onset mitral stenosis in an adult patient with Noonan syndrome: a case report
Abstract Background In patients with Noonan syndrome (NS), cardiac disorders such as pulmonary valve stenosis (PS) or hypertrophic cardiomyopathy (HCM) are common. While some patients can develop heart failure associated with HCM, the long-term outcome of adult patients with NS is reported to be goo...
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| Format: | Article |
| Language: | English |
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BMC
2018-07-01
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| Series: | BMC Cardiovascular Disorders |
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| Online Access: | http://link.springer.com/article/10.1186/s12872-018-0878-1 |
| _version_ | 1818550682120093696 |
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| author | Yoshito Kadoya Tsuneaki Kenzaka Yohei Oda Satoaki Matoba |
| author_facet | Yoshito Kadoya Tsuneaki Kenzaka Yohei Oda Satoaki Matoba |
| author_sort | Yoshito Kadoya |
| collection | DOAJ |
| description | Abstract Background In patients with Noonan syndrome (NS), cardiac disorders such as pulmonary valve stenosis (PS) or hypertrophic cardiomyopathy (HCM) are common. While some patients can develop heart failure associated with HCM, the long-term outcome of adult patients with NS is reported to be good. Fatal outcomes of heart failure in patients with NS but without HCM are rare. Case presentation We report a 25-year-old Japanese woman diagnosed with NS in adulthood. She exhibited short stature and minor facial dysmorphism and was diagnosed with PS at 1 year of age. After surgical valvuloplasty for PS at 6 years of age, her general condition became stable without specific medical treatment. She discontinued regular medical follow-up for PS. At 21 years of age, she developed acute decompensated heart failure, which was mainly right-sided heart failure due to severe pulmonary regurgitation (PR) and tricuspid regurgitation (TR). There was no evidence of HCM or PS recurrence. On the basis of the history of PS and characteristic physical features including short stature, webbed neck, and hypertelorism, she was clinically diagnosed with NS. At 25 years of age, she developed heart failure of both sides due to PR, TR and late-onset severe mitral stenosis (MS). The etiology of MS was uncertain. Owing to the patient’s condition, surgical options were considered to be extremely high risk. She was treated with optimal medical treatment as well as the occasional abdominal cavity drainage for recurrent ascites; however, she died of decompensated heart failure at 27 years of age. Conclusions We describe an adult patient with NS without HCM who died of heart failure caused by severe PR, TR and MS. Clinicians should recognize that ongoing or late-onset cardiac disorders can develop in patients with NS, and lead to fatal heart failure. Optimal medical follow-up to monitor cardiac function and early identification of heart failure are important. |
| first_indexed | 2024-12-12T08:49:44Z |
| format | Article |
| id | doaj.art-9f759869298a417bb24e4d2119e4ae59 |
| institution | Directory Open Access Journal |
| issn | 1471-2261 |
| language | English |
| last_indexed | 2024-12-12T08:49:44Z |
| publishDate | 2018-07-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Cardiovascular Disorders |
| spelling | doaj.art-9f759869298a417bb24e4d2119e4ae592022-12-22T00:30:17ZengBMCBMC Cardiovascular Disorders1471-22612018-07-011811610.1186/s12872-018-0878-1Fatal heart failure caused by severe pulmonary regurgitation, tricuspid regurgitation and late-onset mitral stenosis in an adult patient with Noonan syndrome: a case reportYoshito Kadoya0Tsuneaki Kenzaka1Yohei Oda2Satoaki Matoba3Department of Cardiovascular Medicine, Graduate School of Medical Science, Kyoto Prefectural University of MedicineDivision of Community Medicine and Career Development, Kobe University Graduate School of MedicineDepartment of Cardiovascular Medicine, Kyotango City Yasaka HospitalDepartment of Cardiovascular Medicine, Graduate School of Medical Science, Kyoto Prefectural University of MedicineAbstract Background In patients with Noonan syndrome (NS), cardiac disorders such as pulmonary valve stenosis (PS) or hypertrophic cardiomyopathy (HCM) are common. While some patients can develop heart failure associated with HCM, the long-term outcome of adult patients with NS is reported to be good. Fatal outcomes of heart failure in patients with NS but without HCM are rare. Case presentation We report a 25-year-old Japanese woman diagnosed with NS in adulthood. She exhibited short stature and minor facial dysmorphism and was diagnosed with PS at 1 year of age. After surgical valvuloplasty for PS at 6 years of age, her general condition became stable without specific medical treatment. She discontinued regular medical follow-up for PS. At 21 years of age, she developed acute decompensated heart failure, which was mainly right-sided heart failure due to severe pulmonary regurgitation (PR) and tricuspid regurgitation (TR). There was no evidence of HCM or PS recurrence. On the basis of the history of PS and characteristic physical features including short stature, webbed neck, and hypertelorism, she was clinically diagnosed with NS. At 25 years of age, she developed heart failure of both sides due to PR, TR and late-onset severe mitral stenosis (MS). The etiology of MS was uncertain. Owing to the patient’s condition, surgical options were considered to be extremely high risk. She was treated with optimal medical treatment as well as the occasional abdominal cavity drainage for recurrent ascites; however, she died of decompensated heart failure at 27 years of age. Conclusions We describe an adult patient with NS without HCM who died of heart failure caused by severe PR, TR and MS. Clinicians should recognize that ongoing or late-onset cardiac disorders can develop in patients with NS, and lead to fatal heart failure. Optimal medical follow-up to monitor cardiac function and early identification of heart failure are important.http://link.springer.com/article/10.1186/s12872-018-0878-1Noonan syndromeHeart failurePulmonary regurgitationMitral stenosisCongenital heart disease |
| spellingShingle | Yoshito Kadoya Tsuneaki Kenzaka Yohei Oda Satoaki Matoba Fatal heart failure caused by severe pulmonary regurgitation, tricuspid regurgitation and late-onset mitral stenosis in an adult patient with Noonan syndrome: a case report BMC Cardiovascular Disorders Noonan syndrome Heart failure Pulmonary regurgitation Mitral stenosis Congenital heart disease |
| title | Fatal heart failure caused by severe pulmonary regurgitation, tricuspid regurgitation and late-onset mitral stenosis in an adult patient with Noonan syndrome: a case report |
| title_full | Fatal heart failure caused by severe pulmonary regurgitation, tricuspid regurgitation and late-onset mitral stenosis in an adult patient with Noonan syndrome: a case report |
| title_fullStr | Fatal heart failure caused by severe pulmonary regurgitation, tricuspid regurgitation and late-onset mitral stenosis in an adult patient with Noonan syndrome: a case report |
| title_full_unstemmed | Fatal heart failure caused by severe pulmonary regurgitation, tricuspid regurgitation and late-onset mitral stenosis in an adult patient with Noonan syndrome: a case report |
| title_short | Fatal heart failure caused by severe pulmonary regurgitation, tricuspid regurgitation and late-onset mitral stenosis in an adult patient with Noonan syndrome: a case report |
| title_sort | fatal heart failure caused by severe pulmonary regurgitation tricuspid regurgitation and late onset mitral stenosis in an adult patient with noonan syndrome a case report |
| topic | Noonan syndrome Heart failure Pulmonary regurgitation Mitral stenosis Congenital heart disease |
| url | http://link.springer.com/article/10.1186/s12872-018-0878-1 |
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