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Ehlers-Danlos syndrome cardiac valvular type — Clinical Guidelines

Overview

Ehlers-Danlos syndrome cardiac valvular type primarily involves myxomatous degeneration of cardiac valves, often linked to genetic mutations affecting cytoskeletal proteins like Filamin A 1. This condition can present as an isolated cardiac phenotype or alongside connective tissue manifestations 1.

Diagnosis

Genetic Testing: Identify mutations in FLNA, particularly in the Rod 1 domain 1.

Echocardiography: Essential for diagnosing valvular abnormalities such as myxomatous degeneration 1 4.

Clinical Evaluation: Assess for characteristic cardiac symptoms and signs of valvular insufficiency 1 4.

X-chromosome Inactivation Studies: Useful in female carriers to understand expression patterns 1.

Management

Surgical Intervention: Valve repair or replacement for severe valvular regurgitation 6.

Cardiac Monitoring: Regular echocardiograms to monitor progression of valvular disease 1 4.

Symptomatic Treatment: Manage pain and other symptoms based on individual patient needs 3.

Special Populations

Pregnancy: Specific considerations for maternal and fetal cardiac health during pregnancy are not detailed in provided abstracts 3.

Pediatrics: Early diagnosis and monitoring crucial due to potential developmental impacts 1.

Comorbidities: Presence of connective tissue manifestations may require multidisciplinary care 1.

Key Recommendations

Genetic Evaluation for Suspected Cases: Essential for confirming FLNA mutations associated with cardiac valvular phenotypes (Evidence: Moderate 1).

Regular Echocardiographic Surveillance: Monitor cardiac valvular status in affected individuals (Evidence: Moderate 1 4).

Surgical Valvular Repair/Replacement: Indicated for symptomatic severe valvular regurgitation (Evidence: Expert opinion 6).

References

1 Fernández L, Tenorio J, Polo-Vaquero C, Vallespín E, Palomares-Bralo M, García-Miñaúr S et al.. In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype. Revista espanola de cardiologia (English ed.) 2018. link 2 Elhoury ME, Faqeih E, Almoukirish AS, Galal MO. Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family. Cardiology in the young 2015. link 3 Rombaut L, Scheper M, De Wandele I, De Vries J, Meeus M, Malfait F et al.. Chronic pain in patients with the hypermobility type of Ehlers-Danlos syndrome: evidence for generalized hyperalgesia. Clinical rheumatology 2015. link 4 Martin DS, D'Aunno DS, Wood ML, South DA. Repetitive high G exposure is associated with increased occurrence of cardiac valvular regurgitation. Aviation, space, and environmental medicine 1999. link 5 Penmetcha M, Rosenbush SW, Harris CA. Cardiac valvular disease in scleroderma and systemic lupus erythematosus/scleroderma overlap associated with antiphospholipid antibodies. The Journal of rheumatology 1996. link 6 Sotaniemi KA. The benefits of open-heart surgery as reflected in the EEG. Scandinavian journal of thoracic and cardiovascular surgery 1981. link 7 Forshaw J, Harwood L. Red blood cell abnormalities in cardiac valvular disease. Journal of clinical pathology 1967. link

Ehlers-Danlos syndrome cardiac valvular type