Prognosis in hypertrophic cardiomyopathy: Role of age and clinical, electrocardiographic and hemodynamic features

Low-density DNA microarrays are versatile tools to screen for known mutations in hypertrophic cardiomyopathy

“…Beside hypertrophy, cardiomyocytes exhibit disarray of contractile filaments. Although hypertrophy usually completes with adolescent growth [Maron et al, 1987a,b], symptoms like chest pain, dyspnea, palpitation, syncope, and arrhythmia progress slowly with age [McKenna et al, 1981;Spirito et al, 1997]. The clinical course of HCM is variable.…”

Estratificação de risco para morte súbita na cardiomiopatia hipertrófica: bases genéticas e clínicas

“…The preliminary diagnosis, based on the clinical detection of forms with left ventricular outflow tract obstruction, evolved, with the advent of M-mode and two-dimensional echocardiography, to the identification of marked hypertrophy in the interventricular septum 3 , a trait that was initially highlighted by Teare 1 . Subsequent studies have demonstrated the heterogeneity of the disease for both the extent of hypertrophy 4 and the clinical presentation, evolution and prognosis [5][6][7] . The introduction of molecular genetics during the past decade provided a new paradigm for the diagnosis of HCM, offering a better understanding of the pathogenetic mechanisms involved as well as the individualization of distinct anatomic and functional risk patterns.…”

“…This dramatic and unpredictable complication, affects individuals in any age group but is more prevalent in adolescents and young adults who often were never diagnosed with the disease and are asymptomatic 5,10 . The annual incidence of sudden death varies according to the selection criteria for the patients used in the studies and the clinical management methods.…”

“…The annual incidence of sudden death varies according to the selection criteria for the patients used in the studies and the clinical management methods. Data collected during the phase before the introduction of automatic implantable cardioverter defibrillators reveal numbers between 3% and 6% for children and , and between 2% and 4% for adults 5,6 . The majority of the epidemiological information available was collected at the few referral centers whose patients had a higher incidence of sudden death in relation to populations with a lower degree of selection criteria in whom the disease could have a benign evolution and lower annual mortality rates of approximately 1% 7,11,12 .…”

Fibrose miocárdica em pacientes com cardiomiopatia hipertrófica com alto risco para morte súbita cardíaca

“…Despite the traditional clinical criteria of worse prognosis [5][6][7][8][9][10][11][12] and the genetic advances with regard to the discovery of over 200 mutations that are responsible for the disease [13][14][15][16][17][18] , the stratification of sudden death risk in hypertrophic cardiomyopathy (HCM) continues to be a true challenge due to the great heterogeneity of its presentation, as most individuals remain asymptomatic during their entire lives and some others present sudden death as first symptom.…”