ABSTRACT
Angiotensin-converting enzyme (ACE) activity and polymorphism contribute significantly to the prognosis of patients with cardiomyopathy. The aim of this study was to determine the activity and type of ACE polymorphism in patients with familial and nonfamilial hypertrophic cardiomyopathy (HCM) and to correlate these with echocardiographic measurements (echo-Doppler). We studied 136 patients (76 males) with HCM (69 familial and 67 nonfamilial cases). Mean age was 41 ¡À 17 years. DNA was extracted from blood samples for the polymerase chain reaction and the determination of plasma ACE levels. Left ventricular mass, interventricular septum, and wall thickness were measured. Mean left ventricular mass index, interventricular septum and wall thickness in familial and nonfamilial forms were 154 ¡À 63 and 174 ¡À 57 g/m2 (P = 0.008), 19 ¡À 5 and 21 ¡À 5 mm (P = 0.02), and 10 ¡À 2 and 12 ¡À 3 mm (P = 0.0001), respectively. ACE genotype frequencies were DD = 35%, ID = 52%, and II = 13%. A positive association was observed between serum ACE activity and left ventricular mass index (P = 0.04). Logistic regression showed that ACE activity was twice as high in patients with familial HCM and left ventricular mass index ¡Ý190 g/m2 compared with the nonfamilial form (P = 0.02). No other correlation was observed between ACE polymorphisms and the degree of myocardial hypertrophy. In conclusion, ACE activity, but not ACE polymorphisms, was associated with the degree of myocardialhypertrophy in the patients with HCM.
Subject(s)
Adult , Female , Humans , Male , Cardiomyopathy, Hypertrophic/enzymology , Peptidyl-Dipeptidase A/genetics , Peptidyl-Dipeptidase A/metabolism , Polymorphism, Genetic/genetics , Cardiomyopathy, Hypertrophic, Familial/enzymology , Cardiomyopathy, Hypertrophic, Familial/genetics , Cardiomyopathy, Hypertrophic, Familial , Cardiomyopathy, Hypertrophic/genetics , Cardiomyopathy, Hypertrophic , Echocardiography, Doppler , Genotype , Hypertrophy, Left Ventricular , Phenotype , Severity of Illness IndexSubject(s)
Infant , Child, Preschool , Child , Adolescent , Adult , Middle Aged , Humans , Male , Aortic Valve Stenosis , Cardiomyopathy, Hypertrophic , HemodynamicsABSTRACT
Foram estudados ecocardiograficamente 29 pacientes com diagnostico clinico e laboratorial de endocardite infecciosa (EI) aguda, nos quais o estudo anatomo-patologico pode ser realizado. O ecocardiograma em modo M foi registrado em todos os casos e a tecnica bidimensional foi associada em 7 deles. Evidencias anatomo-patologicas de EI foram observadas em 26 (90%) dos pacientes e o ecocardiograma foi positivo para EI em 25, com apenas um falso resultado negativo. Entretanto, em 5 dos 11 pacientes nos quais o ecocardiograma revelou comprometimento de duas valvas cardiacas, apenas uma delas estava realmente comprometida pelo processo infeccioso. Nestes casos, com resultados ecocardiograficos falsamente positivos, apenas o ecocardiograma em modo M foi realizado. Tres (10%) dos 29 pacientes, nao apresentavam EI segundo estudo anatomo-patologico. Nestes casos, tambem nao foram detectadas evidencias ecocardiograficas da entidade. A EI das valvas mitral, aortica e tricuspide foram identificadas pelo ecocardiograma com precisao semelhante, ressaltando a elevada sensibilidade (96%), especificidade (92%), valor "preditivo" do ecocardiograma positivo (85%) e o valor "preditivo" do ecocardiograma negativo (98%) no diagnostico de EI