title: Diagnostic contribution of left ventricular endomyocardial biopsy in patients with clinical phenotype of hypertrophic cardiomyopathy.
abstract: Hypertrophic cardiomyopathy phenotype is shared by heterogeneous entities. The purpose of the study was to evaluate the diagnostic role of left ventricular endomyocardial biopsy. One hundred fifty-one consecutive patients with unexplained left ventricular hypertrophy and normal/elevated QRS voltages or left bundle-branch block underwent left ventricular endomyocardial biopsy because of associated left ventricular dysfunction (37%), presence of sporadic form of left ventricular hypertrophy (32%), or patient desire for a definite diagnosis (31%). Biopsy samples were processed for histology and electron microscopy. Blood samples were collected for histologically oriented gene analysis of major sarcomeric (MYH7, MYBPC3, TNNT2, TPM1) and lysosomal (LAMP2, PRKAG2, α-galactosidase A) proteins. Histology showed changes consistent/compatible with hypertrophic cardiomyopathy in 124 patients: myocardial storage disease in 18 due to Fabry disease in 12 and glycogen-storage disease in 6 and myocardial infiltrative disease in 9 because of amyloidosis in 7 and sarcoidosis in 2. Gene analysis was positive in 67% of patients with hypertrophic cardiomyopathy (MYH7 mutation in 36, MYBP in 29, TNNT2 in 14, and TPM1 in 5) and in 83% of patients with lysosomal storage disease (α-galactosidase A mutation in 12, PRKAG2 in 2, and LAMP2 in 1). In patients with hypertrophic cardiomyopathy phenotype, left ventricular endomyocardial biopsy is safe and may recognize infiltrative/storage diseases in up to 18% of evolving and sporadic cases.
authors.affiliation: Cardiovascular, Respiratory, Nephrologic and Geriatric Sciences Department, La Sapienza University, 00161 Rome, Italy. biocard@inmi.it
authors.forename: Andrea
authors.initials: A
authors.lastname: Frustaci
authors.forename: Matteo Antonio
authors.initials: MA
authors.lastname: Russo
authors.forename: Cristina
authors.initials: C
authors.lastname: Chimenti
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000175:diagnosis* / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D009206:Myocardium / Q000473:pathology* / Q000648:ultrastructure; D010641:Phenotype; D018487:Ventricular Dysfunction, Left / Q000175:diagnosis / Q000473:pathology; D055815:Young Adult