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Right ventricular pathologic involvement, with autopsy evidence of fibrous and fatty infiltration of the right ventricle, was investigated in members of families in which cases of juvenile sudden death had occurred. Seventy-two subjects from nine families were studied. Sixteen died at a young age and 56 are living. Postmortem investigation in 11 cases (mean age at death 24 years) revealed massive replacement of the right ventricular free wall by fat or fibrous tissue. In the 56 living patients clinical examination included an electrocardiogram (ECG) at rest, ambulatory ECG recording, posteroanterior and lateral chest roentgenograms, M-mode and two-dimensional echocardiograms and exercise stress tests. In 14 patients, hemodynamic, angiographic and electrophysiologic studies were also carried out; right ventricular endomyocardial biopsy was performed in four. Structural and dynamic right ventricular impairment was detected in 30 living patients (mean age 25 years), and concomitant mild left ventricular abnormalities were present in 4. In eight of the nine families studied at least two members were affected. Ventricular arrhythmias (Lown grade greater than or equal to 4a) were recorded in more than half of the cases. The data reveal that right ventricular dysplasia shows a familial clustering and causes electrical instability that may place affected subjects at risk of sudden death. The mean age of these subjects suggests that the disease is manifested at a young age with a polymorphic clinical and arrhythmic profile. Finally, because this disease is a primary disorder of the ventricular myocardium, it should be included among the cardiomyopathies.

An autosomal dominant familial cardiomyopathy, mainly involving the right ventricle and the conduction system, accounted for the ECG changes and the electrical instability of the syndrome.

These data support the concept that the C-344T polymorphism plays a role in controlling systolic blood pressure and the age-related increase in systolic blood pressure in response to age and to body fat, possibly through differences in modulation of aldosterone synthesis.

The cardiovascular effects usually attributed to menopause seem to be a mere consequence of the older age of menopausal women.

The question on whether the electrocardiographic criteria are reliable for detection of left ventricular hypertrophy (LVH) and play a role in predicting outcome is open. Answer can only proceed from population-based studies over unselected people followed up for years. In this study, 1,699 subjects from general population underwent echocardiogram and standard electrocardiogram (ECG) codified for LVH with Minnesota code and with other five methods. Other items were also recorded and used as covariables. Left ventricular mass index (LVMI) was 127.6 +/- 44.9 g m(-2) in men and 120.8 +/- 41.2 g m(-2 )in women, and correlated directly with age in both genders. Prevalence of echocardiographic LVH was 36.6% in men and 53.4% in women. LVMI correlated directly with the Sokolow-Lyon score in both genders at any age, with the Romhilt-Estes, Cornell and R(aVL) scores in all subjects but elderly men, and with the Lewis score in men and women aged < or =69 years. Sensitivity and the predictive value of electrocardiographic tests, as well as the prevalence of LVH diagnosed with electrocardiographic criteria, were always low. Specificity was high for all the tests, and in particular for the Cornell index. Only when diagnosed with echocardiogram or with the Sokolow-Lyon criterion, LVH was an independent predictor of mortality. We conclude that electrocardiographic tests cannot be used as a surrogate of echocardiogram in detecting LVH in the general population because their positive predictive value (PPV) is unacceptably low. On the contrary, they could replace echocardiography in the follow up and for prediction of outcome, when LVH has previously been correctly diagnosed with other methods

This study provides the first evidence of a homozygous missense mutation in SCN5A associated with atypical ventricular arrhythmias and right structural abnormalities.

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