Klippel - Feil Syndrome Associated with Atrial Septal Defect

Bejiqi, Ramush; Retkoceri, Ragip; Bejiqi, Hana; Zeka, Naim; Maloku, Arlinda; Berisha, Merita

doi:10.5455/medarh.2013.67.141-142

Cited by 5 publications

(3 citation statements)

References 17 publications

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“…Associated anomalies occur in the auditory system, neural axis, cardiovascular system, and the musculoskeletal system. Cardiovascular anomalies, mainly septal defects, were found in 7 patients in Hensinger's series, with 4 of these individuals requiring corrective surgery [26]. In our presentation all cases have a different CHD including those which from delivery threatening children's life ( irst case with total anomalous pulmonary venous return).…”

Section: Discussionmentioning

confidence: 59%

How often is Klippel-Feil Syndrome associated with congential heart disease presentation of five cases and a review of the literature

Retkoceri¹,

Maloku²,

Bejiqi³

et al. 2019

J Cardiol Cardiovasc Med

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Section: Discussionmentioning

confidence: 59%

How often is Klippel-Feil Syndrome associated with congential heart disease presentation of five cases and a review of the literature

Retkoceri¹,

Maloku²,

Bejiqi³

et al. 2019

J Cardiol Cardiovasc Med

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“…Ventricular septal defects and coarctation of the aorta have been most commonly described. Less commonly described anomalies include congenital complete heart block, atrial septal defect, aortic and vertebral artery anomalies, ruptured aneurysm of sinus of Valsalva, total anomalous pulmonary venous connection, and levotransposition of great arteries . To the best of our knowledge, this is the first report of KFS‐associated severe aortic regurgitation in the setting of trileaflet valve and normal aortic dimensions, thickened leaflets, leaflet malcoaptation, and mild prolapse of right coronary cusp (Figure ).…”

Section: Discussionmentioning

confidence: 96%

Klippel–Feil syndrome: A very unusual cause of severe aortic regurgitation visualized by multimodality imaging

Ahluwalia¹,

Sehgal

Vainrib³

et al. 2019

Echocardiography

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A 51‐year‐old man with Klippel–Feil syndrome (KFS) and immunodeficiency syndrome, status postintravenous immunoglobulin therapy, presented with shortness of breath. He was found to have severe aortic regurgitation in the setting of a trileaflet aortic valve with thickened leaflets and mild prolapse of the right coronary cusp with left ventricular dilation and borderline left ventricular ejection fraction. Although various cardiac anomalies have been described in KPS, otherwise unexplained severe aortic regurgitation has not been previously reported to the best of our knowledge. The patient underwent an uncomplicated surgical aortic valve replacement with a 25‐mm Medtronic Avalus pericardial tissue valve resulting in symptomatic improvement. Intra‐operative management and transesophageal echocardiography can be particularly challenging in KFS patients. We describe the first reported case of severe aortic regurgitation in KPS, review the cardiac anomalies associated with the syndrome, and highlight the clinical challenges in intra‐operative management of these patients.

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“… 1 An interesting association of ASD with Klippel–Feil syndrome was recently reported, which has the major physical examination features of a short neck, limited range of motion in the neck, and low hairline at the back of the head. 14 Electrocardiographic signs of a secundum ASD include a right axis, right atrial enlargement, voltage evidence of right ventricular hypertrophy, and incomplete right bundle branch block. 1 , 2 A superior left axis may be seen with primum ASDs, while sinus venosus ASDs are associated with an inferior P-wave axis.…”

Section: Clinical Manifestationsmentioning

confidence: 99%

Atrial Septal Defects – Clinical Manifestations, Echo Assessment, and Intervention

Martin

Shapiro

Mukherjee

2014

Clin Med Insights Cardiol

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Atrial septal defect (ASD) is a common congenital abnormality that occurs in the form of ostium secundum, ostium primum, sinus venosus, and rarely, coronary sinus defects. Pathophysiologic consequences of ASDs typically begin in adulthood, and include arrhythmia, paradoxical embolism, cerebral abscess, pulmonary hypertension, and right ventricular failure. Two-dimensional (2D) transthoracic echocardiography with Doppler is a central aspect of the evaluation. This noninvasive imaging modality often establishes the diagnosis and provides critical information guiding intervention. A comprehensive echocardiogram includes evaluation of anatomical ASD characteristics, flow direction, associated abnormalities (eg, anomalous pulmonary veins), right ventricular anatomy and function, pulmonary pressures, and the pulmonary/systemic flow ratio. The primary indication for ASD closure is right heart volume overload, whether symptoms are present or not. ASD closure may also be reasonable in other contexts, such as paradoxical embolism. ASD type and local clinical expertise guide choice of a percutaneous versus surgical approach to ASD closure.

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Klippel - Feil Syndrome Associated with Atrial Septal Defect

Cited by 5 publications

References 17 publications

How often is Klippel-Feil Syndrome associated with congential heart disease presentation of five cases and a review of the literature

How often is Klippel-Feil Syndrome associated with congential heart disease presentation of five cases and a review of the literature

Klippel–Feil syndrome: A very unusual cause of severe aortic regurgitation visualized by multimodality imaging

Atrial Septal Defects – Clinical Manifestations, Echo Assessment, and Intervention

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