25 May 2022 : Case report
[In Press] Acute Mitral Regurgitation Due to Chordae Tendineae Rupture: A Rare Presentation of Cardiac Amyloidosis
Unusual clinical course, Challenging differential diagnosis, Rare diseaseRegina Aguilar-López1ABCDEF, Cristopher Cándido Sánchez-Rodríguez2ABCDEF, Daniel Manzur-Sandoval2ABCDEF, María Flores Calvo1ABCDEF, Alberto Aranda-Fraustro3ABCDEF, Antonio Jordán-Ríos4ABCDEF, Alejandro Francisco-Cruz3ABCDEF, Gustavo Rojas-Velasco2ABCDEF
Am J Case Rep In Press; DOI: 10.12659/AJCR.936545
Available online: 2022-05-25, In Press, Corrected Proof
Publication in the "In-Press" formula aims at speeding up the public availability of the pending manuscript while waiting for the final publication. The assigned DOI number is active and citable. The availability of the article in the Medline, PubMed and PMC databases as well as Web of Science will be obtained after the final publication according to the journal schedule
In cardiac amyloidosis (CA), misfolded proteins deposit in the extracellular space of cardiac tissue. These deposits classically cause restrictive cardiomyopathy with diastolic dysfunction. Although there are at least 30 proteins known to cause amyloid aggregates, 2 main types make up most diagnosed cases: light chain amyloidosis (AL) and transthyretin amyloidosis (ATTR). Since CA is considered a rare condition, it is often underdiagnosed or recognized in the advanced stages. Once amyloid deposits involve the heart tissue, they are associated with a worse outcome and higher mortality rates, especially in patients presenting symptoms of heart failure.
We report a case of a 22-year-old man presenting with acute severe mitral regurgitation, secondary to posterior mitral leaflet chordae tendineae rupture (CTR). Surgical mitral valve replacement with a mechanical prosthesis was performed, and cardiac tissue biopsy samples were obtained. After surgery, the patient improved significantly but suddenly presented with hemodynamic deterioration, until he died due to severe hemodynamic compromise and multiorgan failure. Although the etiology of the CTR was not established before surgical intervention, the histopathological analysis suggested CA.
CA diagnosis can be complex, especially in a 22-year-old-man with atypical clinical and imaging manifestations. In this patient, other differential diagnoses were considered, since CA presenting in a young patient is a rare phenomenon and acute mitral regurgitation secondary to CTR presents more frequently in other heart conditions. Furthermore, rapid postoperative deterioration resulted in the patient’s death before biopsy samples were available because suspicion of amyloidosis had not been raised until that point.
Keywords: Amyloidosis; Heart Failure; Mitral Valve Insufficiency
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