Cardiovascular diseases remain the leading cause of death worldwide. The article Global, Regional, and National Burden of Cardiovascular Diseases and Risk Factors in 204 Countries and Territories, 1990-2023, released at the end of September, revealed a worrying trend: a worsening from the 90s to the present, with a significant increase in cardiovascular mortality of as much as 40% in men and approximately 20% in women. This underscores the importance of cardiovascular disease, which has seen a worsening trend in recent years. The factors most responsible for this increase are the aging population, exposure to environmental pollutants, and diseases such as obesity and diabetes.

Women generally have a numerically lower risk of cardiovascular events—in this case, strokes and heart attacks—than men. This difference, however, diminishes with age, particularly in the postmenopausal period. However, women who develop cardiovascular problems have an increased risk of mortality and complications compared to men, likely because the diagnosis of cardiovascular disease in women is more complicated. They may have different symptoms that can be misinterpreted, leading to diagnosis occurring at a much later stage, when the options for treatment are limited.

Regarding cardiomyopathies, which are primarily genetic heart muscle diseases, the prevalence in women depends on the gene's inheritance pattern. In autosomal dominant diseases—such as hypertrophic cardiomyopathy, dilated cardiomyopathy, and genetic amyloidosis—the prevalence is expected to be similar in men and women. However, women are increasingly underrepresented in cardiomyopathy patient populations. This may be due to protective factors women may possess, but above all, to the fact that women are likely less frequently diagnosed than men.

Let's start by saying that we don't have gender-specific diagnostic criteria. For example, for hypertrophic cardiomyopathy, which is diagnosed based on the thickness of the left ventricle, women have smaller thicknesses than men. If I'm 1.60 m tall and weigh 50 kg, my heart is thinner than a 2-meter-tall man who weighs 100 kg. However, the diagnosis of hypertrophic cardiomyopathy is made at 15 mm, both for me and for the 2-meter-tall man. For me, reaching 15 mm is a huge difference in thickness compared to a larger man. Therefore, women, having smaller thicknesses, may either not reach the diagnostic threshold at all, and therefore go undiagnosed, or may reach it only in extremely severe cases. A recent English study has shown how, using artificial intelligence algorithms, it is possible to derive gender-specific thickness parameters, increasing the diagnosis of hypertrophic cardiomyopathy in women. This is a major problem: We do not have validated parameters for women to diagnose cardiomyopathies.

There is much more attention than in the past, both in identifying diagnostic parameters that take gender differences into account and in assessing the risk of adverse events. For example, in certain cardiomyopathies, the risk of adverse events is different in men and women: in patients with dilated cardiomyopathy due to variants of the leaf, the risk of major arrhythmias is higher in men; conversely, in cardiomyopathies due to variants of the desmoplakinThe risk of adverse events is higher in women. Therefore, efforts are now underway to include gender as a key parameter, both for diagnosis and risk stratification.

Awareness-raising efforts are underway on several fronts. First and foremost, it focuses on recognizing cardiovascular symptoms, which in women can be misinterpreted as simple anxiety symptoms, when in reality they are real symptoms. Tachycardia and shortness of breath can sometimes be misinterpreted as anxiety symptoms rather than actual symptoms of heart disease, because the severity of these symptoms in women tends to be underestimated.

There are campaigns to promote cardiovascular prevention in general: raising awareness of the importance of measuring blood pressure and getting blood tests to assess cholesterol levels. Regarding cardiomyopathy, get checked out if you have family members with cardiomyopathy—follow the recommendations of the referral center, get a screening exam, and then follow-up visits based on the cardiologist's recommendations.

It's extremely important for women to consider pregnancy-related conditions as risk factors. Having hypertension, diabetes, and pre-eclampsia during pregnancy increases the risk of cardiovascular events over time. Women who have had these types of problems should maintain long-term follow-up. Furthermore, the development of left ventricular dysfunction during pregnancy or shortly after delivery can be a sign of cardiomyopathy. This should not be underestimated, and it's important to consult a specialized center for the necessary tests.

There's a lot of interest, and it's therefore a highly topical issue, even in the curriculum and training of young doctors. In cardiology, there's particular attention paid to pregnancy and menopause, which are very delicate times and high risk for the development of cardiovascular diseases.