title: Prevalence, clinical significance, and natural history of left ventricular apical aneurysms in hypertrophic cardiomyopathy.
abstract: BACKGROUND
  Hypertrophic cardiomyopathy (HCM) is the most common genetic heart disease characterized by a diverse clinical and phenotypic spectrum. This study reports the prevalence, morphology, clinical course, and management of an underrecognized subgroup of HCM patients with left ventricular apical aneurysms.
  
  
  RESULTS
  Of 1299 HCM patients, 28 (2%) were identified with left ventricular apical aneurysms, including a pair of identical twins. Aneurysms were recognized at a wide age range (26 to 83 years), including 12 patients (43%) who were <or=50 years of age. Apical aneurysms varied considerably in size (maximum dimension, 10 to 66 mm), were dyskinetic/akinetic with thin rims, and were associated with transmural (and often more extensive) myocardial scarring identified by late gadolinium enhancement cardiovascular magnetic resonance. Apical aneurysms were recognized by echocardiography in only 16 of 28 patients (57%) but by cardiovascular magnetic resonance in the 12 patients undetected by echocardiography. Left ventricular chamber morphology varied; however, 19 patients (68%) showed an "hourglass" contour, with midventricular hypertrophy producing muscular narrowing and intracavitary gradients in 9 patients (74+/-42 mm Hg). Sarcomeric protein missense mutations known to cause other phenotypic expressions of HCM were present in 3 patients. Over 4.1+/-3.7 years of follow-up, 12 patients (43%) with left ventricular apical aneurysms experienced adverse disease complications (event rate, 10.5%/y), including sudden death, appropriate implantable cardioverter-defibrillator discharges, nonfatal thromboembolic stroke, and progressive heart failure and death.
  
  
  CONCLUSIONS
  Patients with left ventricular apical aneurysms represent an underappreciated subset in the heterogeneous HCM disease spectrum with important clinical implications, often requiring a high index of suspicion and cardiovascular magnetic resonance for identification. Apical aneurysms in HCM are associated with substantial cardiovascular morbidity and mortality and raise novel treatment considerations.
authors.affiliation: Division of Cardiology, Hypertrophic Cardiomyopathy Center, Tufts Medical Center, Boston, Massachussetts 02111, USA. mmaron@tuftsmedicalcenter.org
authors.forename: Martin S
authors.initials: MS
authors.lastname: Maron
authors.forename: John J
authors.initials: JJ
authors.lastname: Finley
authors.forename: J Martijn
authors.initials: JM
authors.lastname: Bos
authors.forename: Thomas H
authors.initials: TH
authors.lastname: Hauser
authors.forename: Warren J
authors.initials: WJ
authors.lastname: Manning
authors.forename: Tammy S
authors.initials: TS
authors.lastname: Haas
authors.forename: John R
authors.initials: JR
authors.lastname: Lesser
authors.forename: James E
authors.initials: JE
authors.lastname: Udelson
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Ackerman
authors.forename: Barry J
authors.initials: BJ
authors.lastname: Maron
mesh_terms: D000319:Adrenergic beta-Antagonists / Q000627:therapeutic use; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis* / Q000453:epidemiology* / Q000628:therapy; D003323:Coronary Aneurysm / Q000175:diagnosis* / Q000453:epidemiology* / Q000628:therapy; D017147:Defibrillators, Implantable; D015150:Echocardiography, Doppler; D004562:Electrocardiography; D005260:Female; D005500:Follow-Up Studies; D005682:Gadolinium; D005820:Genetic Testing; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000175:diagnosis* / Q000453:epidemiology* / Q000628:therapy; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D014694:Ventricular Outflow Obstruction / Q000175:diagnosis / Q000453:epidemiology* / Q000628:therapy
chemical_list: D000319:Adrenergic beta-Antagonists; D005682:Gadolinium