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Aortic stenosis of a bicuspid aortic valve in a patient with Klippel-Feil syndrome: a case report.

ABSTRACT: Background:Klippel-Feil syndrome (KFS) is a rare congenital anomaly of the cervical spine, which is associated with a number of cardiovascular malformations, including coarctation of the aorta, bicuspid aortic valve (BAoV), and aortic aneurysm. Operative management of aortic stenosis of a BAoV in a patient with KFS has not been previously reported. Case summary:A 54-year-old Caucasian woman with known KFS presented to her local hospital for elective cholecystectomy. An ejection systolic murmur was found incidentally on preoperative workup, which was confirmed to be due to a severely stenosed BAoV. The cholecystectomy was cancelled, and the patient was referred to our centre and accepted for surgical aortic valve replacement (AVR) based on symptomatic and prognostic grounds. Anaesthetic review of cervical spine imaging showed fusion of the C2-C6 vertebral bodies and a desiccated bulging disc at C4-C5 but no significant foraminal narrowing in the lower cervical spine. Valve replacement with a mechanical aortic prosthesis resulted in an uneventful recovery and the patient was discharged home to follow-up. Discussion:We report the first case of severe aortic valve stenosis requiring AVR in a Klippel-Feil patient, in whom the aortic valve was confirmed to be bicuspid. This report provides further evidence of an association of KFS with BAoV and strengthens the case for screening and follow-up of KFS patients for BAoV and other cardiovascular pathologies, the consequences of which may be serious.

SUBMITTER: Hammond RFL

PROVIDER: S-EPMC7319826 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature

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Aortic stenosis of a bicuspid aortic valve in a patient with Klippel-Feil syndrome: a case report.

Hammond Rory F L RFL Jasionowska Sara S Awad Wael I WI

European heart journal. Case reports 20200324 3

<h4>Background</h4>Klippel-Feil syndrome (KFS) is a rare congenital anomaly of the cervical spine, which is associated with a number of cardiovascular malformations, including coarctation of the aorta, bicuspid aortic valve (BAoV), and aortic aneurysm. Operative management of aortic stenosis of a BAoV in a patient with KFS has not been previously reported.<h4>Case summary</h4>A 54-year-old Caucasian woman with known KFS presented to her local hospital for elective cholecystectomy. An ejection sy ...[more]

PMID: 32617481

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Project description:IntroductionCoarctation of the aorta (CoA) is usually diagnosed and corrected early in life. Most untreated patients with CoA usually die before 50 years of age. Adult patients with concomitant CoA and severe bicuspid aortic stenosis are relatively rare and present complex management challenges without standard guidelines.Case summaryA 63-year-old female patient with uncontrolled hypertension was admitted due to chest pain and dyspnea upon exertion (NYHA grades III). Echocardiogram showed a severely calcified and stenotic bicuspid aortic valve (BAV). A severe stenotic calcified eccentric aortic coarctation 20 mm distal to the left subclavian artery (LSA) was discovered by computed tomography (CT) angiography. Following consultation with the cardiac team and patient willingness, we performed a one-stop interventional procedure to repair both defects. First, a cheatham-platinum (CP) stent was implanted via the right femoral access, immediately distal to the LSA. Due to the markedly twisted and angled descending aortic arch, we chose to perform transcatheter aortic valve replacement (TAVR) via the left common carotid artery. The patient was discharged and followed up for 1 year without symptoms.DiscussionAlthough surgery is still the main treatment for these diseases, it is not suitable for high-risk surgical patient. Transcatheter intervention for patients with severe aortic stenosis complicated with CoA simultaneously is rarely reported. The success of this procedure depends on the patient's vascular condition, the skills of the heart team, and the availability of the technical platform.ConclusionOur case report demonstrates the feasibility and efficacy of a one-stop interventional procedure in an adult patient with concurrent severely calcified BAV and CoA via two different vascular approaches. Transcatheter intervention, in contrast to traditional surgical approaches or two-stop interventional procedures, as a minimally invasive and novel method, offers a wider range of therapeutic methods for such diseases.

Project description:ImportanceThe outcomes of transcatheter aortic valve replacement (TAVR) in low-risk patients with bicuspid aortic valve stenosis have not been studied in a large scale, multicentered, prospective fashion.ObjectiveTo evaluate the procedural safety, efficacy, and 30-day outcomes of TAVR in patients with bicuspid aortic stenosis at low surgical risk.Design, setting, and participantsThe Low Risk Bicuspid Study is a prospective, single-arm trial study with inclusion/exclusion criteria developed from the Evolut Low Risk Randomized Trial. Follow-up is planned for 10 years. Patients underwent TAVR at 25 centers in the United States who were also participating in the Evolut Low Risk Randomized Trial from December 2018 to October 2019. Eligible patients had severe bicuspid aortic valve stenosis and met American Heart Association/American College of Cardiology guideline indications for aortic valve replacement.InterventionsPatients underwent attempted implant of an Evolut or Evolut PRO transcatheter aortic valve, with valve size based on annular measurements.Main outcomes and measuresThe prespecified primary end point was the incidence of all-cause mortality or disabling stroke at 30 days. The prespecified primary efficacy end point was device success defined as the absence of procedural mortality, the correct position of 1 bioprosthetic heart valve in the proper anatomical location, and the absence of more than mild aortic regurgitation postprocedure.ResultsA total of 150 patients underwent an attempted implant. Baseline characteristics include mean age of 70.3 (5.5) years, 48.0% female (n = 72), and a mean Society of Thoracic Surgeons score of 1.4 (0.6%). Most patients (136; 90.7%) had Sievers type I valve morphology. The incidence of all-cause mortality or disabling stroke was 1.3% (95% CI, 0.3%-5.3%) at 30 days. The device success rate was 95.3% (95% CI, 90.5%-98.1%). At 30 days, the mean (SD) AV gradient was 7.6 (3.7) mm Hg and effective orifice area was 2.3 (0.7) cm2. A new permanent pacemaker was implanted in 22 patients (15.1%). No patients had greater than mild paravalvular leak.Conclusions and relevanceTranscatheter aortic valve replacement in low-surgical risk patients with bicuspid aortic valve stenosis achieved favorable 30-day results, with low rates of death and stroke and high device success rate.Trial registrationClinicalTrials.gov Identifier: NCT03635424.

Dataset Information

Aortic stenosis of a bicuspid aortic valve in a patient with Klippel-Feil syndrome: a case report.

Publications

Aortic stenosis of a bicuspid aortic valve in a patient with Klippel-Feil syndrome: a case report.

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