heart

The infectivity and pathogenesis: SARS-CoV-2, the causative agent of Covid-19, involves Angiotensin-converting enzyme 2 (ACE2) receptors on type II alveolar type 2 (AT2) cells in lungs. Apart from, the upper and lower respiratory tracts, the disease affects the gastrointestinal system prominently, as evidenced by the significant GI symptoms, early in the course of the disease. In addition, the virus infects ACE2-bearing cells in other organs including the heart and blood vessels, brain, and kidneys. Clinical features and morbidity: The clinical spectrum of COVID-19 varies from asymptomatic or pauci-symptomatic presentation to moderate to severe states characterized by respiratory failure necessitating mechanical ventilation and ICU support and those manifesting critical clinical condition with complications like sepsis, septic shock, and multiple organ dysfunction failure. The CT chest is an important tool for early identification of COVID-19 pneumonia as well as for prognostic purposes. The recovery and residual damage: The recovery and other outcomes vary depending on age and other aspects including sex, comorbidities, and genetic factors. The outlook for older adults, who account for a disproportionate share of critical disease, is unfavorable, and most of those who survive are unlikely to return to their previous level of functioning. The disease affects their long-term health and quality of life as well as brings in propensity for truncated post-disease survival. COVID-19 aftermath and follow up: The patients discharged from hospital following severe COVID-19, continue to suffer with lingering impact of the disease as well as that of the emergency treatments that saved their life. The post-infection reduced exercise tolerance and other subtle factors, like post viral fatigue syndrome, post-traumatic stress disorder, impaired concentration, delirium, and disturbed sleep-wake cycle often underly the functional impairment. In fact, there is need of step-down care and later a multidisciplinary support involving regular clinical assessment, respiratory review, physiotherapy, nutritional advice, and psychiatric support. Conclusion: The life after COVID-19: After recovery from the disease, the virus SARS-CoV-2, may persist for uncertain period. In addition, the chance of reinfection cannot be ruled out. The vitamin D supplementation may be helpful. In general, the quality of life (QOL) in ICU survivors improves but remains lower than general population levels, but most of the patients adapt well to their level of self-sufficiency and QOL. Also, the debility due to co-morbidities may further compromise the activity of daily living and QOL issues. The Age and severity of illness appear to be the major predictors of post-discharge physical functioning.

In this work we used semi-isolated heart of the cockroach Nauphoeta cinerea for the investigation of the pharmacological effects of extracts (aqueous, 1:1, 1:2, 1:4 and 1:8) from Nephrolepis exaltata L. leaves, a popular ornamental fern considered to be safe. The use of insects in experimental studies has grown due to the easy handling, proliferation/growing assuring its rapid obtention, and absence of ethical issues. An aqueous extract 0.2 % was obtained after maceration of 1 g N. exaltata leaves powder with 20 mL of distilled water (1:20). Diluted extracts in water were obtained to have the following proportion 1:1, 1:2, 1:4 and 1:8. Experiments (n=4) consisted of 200 µL addition onto semi-isolated heart preparation of N. cinerea with concomitant heart beating counting. Aqueous, 1:1 and 1:2 extracts paralyzed completely the heart beatings of cockroachs (p<0.05 compared to saline control), but not 1:4 or 1:8, which showed only a slight decline (p>0.05 compared to saline control). A preliminary thin layer chromatography showed the presence of unidentified terpenoid in aqueous extract of N. exaltata. These pharmacological findings of N. exaltata can be exploited for future use as insecticide or as dose-dependently cholinergic agent.

As per report of WHO [1] (World Health Organization), air pollution (ambient/outdoor and household/indoor air pollution) kills an estimated seven million people worldwide every year largely as a result of increased mortality from stroke, heart disease, chronic obstructive pulmonary disease, lung cancer and acute respiratory infections. Data of WHO shows that 9 out of 10 people breathe air containing high levels of pollutants. World Health Organization is working with countries to monitor air pollution and improve air quality. From smog hanging over cities to smoke inside the home, air pollution poses a major threat to health and climate. More than 80% of people living in urban areas and around 91% of the world’s population live in places where air quality levels exceed WHO limits, with developing and under-developed countries suffering from the highest exposures, both indoors and outdoors [1]. While outdoor air pollution comes from the motor vehicles, burning of fossil fuels and other industrialization activities, indoor air pollution is the result of tobacco smoke and burning fuel for cooking & heating. Furniture and construction materials also emit such pollutants. Both outdoor and indoor air pollution are harmful to the human health.

Hypertension is a complex disorder involving multiple organ systems and the primarily modifiable risk factor for heart disease, which is the leading cause of death among both men and women in the World. Although both men and women develop hypertension, distinct gender differences in the incidence and severity of hypertension are well established where men have a higher incidence of hypertension compared with women of the same age until the sixth decade of life [1,2]. Despite gender differences in human hypertension, the treatment guidelines do not differ by gender [3]. Even if the causes of hypertension are complex and are related to genetic factors, lifestyle, diet structure, and environmental factors including air pollution [4], coupled with the potential determinants of hypertension, sex differences in hypertension-which exist in human populations-are attributed to both biological and behavioural factors. The biological factors include sex hormones, chromosomal differences, and other biological sex differences that are protective against hypertension in women. These factors become prominent in adolescence and persist through adulthood until women reach menopause. Behavioural risk factors for hypertension include high body mass index, smoking, and low physical activity.

Hypertension and blood pressure are closely related, and hypertension is directly related with stroke. There are different type of blood pressures such as basal, diastolic, maximum, mean arterial, systolic, mean central venous. The present report examines the determinants of systolic blood pressure for two different groups of cardiac patients. One group of cardiac patients is those who underwent dobutamine stress echocardiography, and the other group is Worcester heart attack study. Many systolic blood pressure determinants, their effects, and correlations have been focused in the current report.

In this review After Observing biomedical literature (starting from some heart disease) results that some pathological phenomena are deeply involved in some metabolic endocrine condition: Kinetics and gradients in metabolism, catabolism, time related, toxic like effect, electrical cell membrane status, smooth vascular muscle cell hyper-reactivity, platelet iperactivations, central autonomic control after acute stroke, great electrolytes unbalances et other factors as pro-hypertrophic signaling and oxidative stress. Observing actual current therapy in some metabolic endocrine therapy often is used association of drugs (in example in type II diabetes). In Many other pathologies efficacy drug therapy exist, and often only 1 pharmacological molecule resolve the pathological condition. But in many disease even associating 2-3-4 drugs the % of cure not increase (efficacy, effectiveness). It mean that this drugs strategies are not the really best? Or it mean a low active level? Why for this pathological condition this association drugs in currently use not do the right works as really needed? There is the need for new really efficacy drugs strategy that show a profile of efficacy as requested in order to resolve the pathological condition? Or to be added to the actual therapy? The actual pharmacological strategies in some metabolic endocrine disorder is really the best? Or other strategies can be introduced?

Previous clinical, observation and epidemiologic studies have demonstrated strong association between serum uric acid (SUA) and cardiovascular disease (hypertension, heart failure, and asymptomatic atherosclerosis), metabolic states (abdominal obesity, diabetes mellitus, metabolic syndrome, insulin resistance) and kidney disease. There is a large body of evidence regarding the role of SUA as predictor of CV events and CV mortality in general population and individuals with established CV disease and metabolic diseases. However, SUA may exhibit protective effects on endothelium and vasculature as well as attenuate endogenous repair system through mobbing and differentiation of cell precursors. Although SUA lowering drugs are widely used in patients with symptomatic hyperuricemia and gout beyond their etiologies, there is no agreement of SUA below target level 6.0 mg/dL in asymptomatic individuals with kidney injury and CV disease and data of ones are sufficiently limited. The short communication is depicted on the controversial role of SUA as primary cell toxicity agent and secondary cell protector against hypoxia, ischemia and apoptosis

The new report of American College of Cardiology/American Heart Association task force on Clinical Practice Guidelines for High Blood Pressure in Adults was published online ahead of print November 13, 2017. The new American recommendation was focused on the criteria to define Hypertension. 130/80 mmHg or more is now considered as the new cut off point to define Hypertension. It is not new if we consider cumulative evidence in the las two decades has been broken the idea to consider 140/90 mmHg as the point to start medical actions. Thus, in México with current ACC/AHA definition it is estimated today around 48 million of adult hypertensive population. In the Mexican Institute of Social Security (IMSS) several strategies has been developed to improve prevention as the key action to confront non communicable chronic disease including hypertension. This updated guideline from ACC/AHA is an extraordinary opportunity to reinforce our preventive programs to high blood pressure control. In this brief report we analyze the epidemiological situation in Mexico and its possible consequences of the new criteria for hypertension diagnosis. The main current strategies that are applied into the IMSS to confront cardiovascular risk factors are directed to prevention. The IMSS is prepared to attend situations as the change of criteria diagnoses in Hypertension and new preventive models are in progression.

Atherosclerotic cardiovascular disease (ASCVD) is globally defined as coronary heart disease, cerebrovascular disease, or peripheral arterial disease presumed to be of atherosclerotic origin and it is the leading cause of morbidity and mortality for individuals with or without diabetes and is the largest contributor to the direct and indirect catastrophic costs of cardiovascular disorder. Very common conditions coexisting into the cardiovascular risk (e.g., obesity, hypertension, diabetes and dyslipidemia) are clear risk factors for ASCVD, and diabetes itself confers independent risk. Numerous studies have shown the efficacy of controlling individual cardiovascular risk factors in preventing or slowing ASCVD in people with these disorders. In other words it is not enough control one risk factor. We need to develop novel strategies to detect and control all of them at the same time. Thus, large benefits are seen when multiple cardiovascular risk factors are addressed simultaneously. Under the current paradigm of aggressive risk factor modification in patients with cardiovascular risk, there is evidence that measures of 10-year coronary heart disease (CHD) risk among U.S. adults with cardiovascular risk have improved significantly over the past decade and that ASCVD morbidity and mortality have decreased. In Mexico the Mexican Institute of Social Security is implementing new strategies of primary and secondary prevention in order to confront this pandemic. In this review, we analyze the state of the art to approach at the same time the different cardiovascular risk factors, in an integral form because of this is the real worldwide challenge of health.

Hypertension is one of the most common chronic diseases of human, affecting more than one billion people worldwide. When it becomes chronic, hypertension leaves behind cardiac hypertrophy, heart failure, stroke, and kidney disease, resulting in substantial morbidity and mortality. Treatments that effectively reduce blood pressure can prevent these complications. Abnormalities in the production of urine by the kidneys have been implicated in increased vascular resistance, leading to high blood pressure and increased cardiac mass. By matching urinary excretion of salt and water with dietary intake, balance is usually attained, thereby maintaining a constant extracellular fluid volume and blood pressure. Based on the capacity for the kidney to excrete sodium, this blood pressure-altering mechanism should have sufficient advantage to limit intravascular volume and consequently lower blood pressure in response to a range of stimuli from elevated heart rate to increase peripheral vascular resistance. A major determinant of the level of intra- and extra- renal blood pressure is therefore sodium handling, and it is controlled by complex physiological mechanism by hormones, inflammatory mediators, and the sympathetic nervous system. Homoeostasis and favourable influence sodium balance are a basic mechanism of efficacy for diuretics and dietary sodium restriction in hypertension. Renin Angiotensin System (RAS) inhibitors, vasodilators, and β-blockers work to facilitate pressure-natriuresis. Also, WNK signaling pathways, soluble inflammatory mediators, and pathways regulating extra-renal sodium disposition may be the focus towards elimination of sodium and reducing blood pressure in hypertension.

Background: Several epidemiologic studies indicate that up to 50% of patients with heart failure have a preserved ejection fraction, and this proportion has increased over time. The knowledge of its severity and associated comorbidity is determining factor to develop adequate strategies for its treatment and prevention. This study was focus on the creation of a cohort and follow-up of Mexican population and to analyze its severity as well as its interaction with the comorbidity of other cardiovascular risk factors. Methods: We included patients from different sites of Mexico City than were sent to the Cardiology hospital of the National Medical Center in Mexico City for the realization of an echocardiogram as part of their assessment by the presence of dyspnea, edema, or suspicion of hypertensive heart disease. Complete medical history, physical examination and laboratory studies including Brain Natriuretic Peptide (BNP) serum levels were performed. Diagnosis of diastolic dysfunction was based on symptoms and echocardiographic data including time of deceleration, size of left atrium, e´ septal and e´ lateral, as well as E wave, A wave and its ratio E/A. All patients had left ventricle ejection fraction > 45%. Results: We included 168 patients with HFpEF. The most common risk factor was hypertension (89.2%), followed by overweight and obesity (> 78.5%), dyslipidemia (82.1%) and diabetes (42.8%). Women were dominant, 108 (64.3%); the mean age was 63 years old. When we classify by severity of diastolic dysfunction, we found that 41.1% were grade I, 57.1% were grade II and only 1.8% were grade III. The risk factors most strongly associated with the severity of diastolic dysfunction were hypertension, obesity and dyslipidemia. We found BNP levels highly variables, but the levels were higher detected as the ejection fraction was approaching to 45%. At one year of follow up mortality was not reported. Conclusion: HFpEF is a frequent entity in patients with cardiovascular risk factors in Mexico. The most common risk factor was hypertension. The combination of hypertension, overweight and dyslipidemia predicted the severity of diastolic dysfunction. We recommend that all Mexican patient with hypertension and overweight or obesity should be submitted as a part of its medical evaluation to an echocardiogram study in order to detect diastolic dysfunction even though the signs or symptoms are or not evident.

Today, Mexico has more than 130 million inhabitants; 85 millions of them are adults of 20 or more years old. The population pyramid is still one of base wider and this base corresponds to adults younger than 54 years old. Despite predictions made 20 years ago, about a transformation of the population pyramid shape to a mushroom shape as a consequence of more life expected and adult population growth; this change has not been occurred. Hypertension has become the biggest challenge of noncommunicable chronic diseases to public health in Mexico. Around 30% of adult Mexican population has hypertension; 75% of them have less than 54 years old (in productive age); 40% of them are unaware but only 50% of aware hypertensive population takes drugs and, 50% of them are controlled (< 140/90 mmHg). Cardiovascular risk factors including hypertension, dyslipidemia, obesity, and diabetes often cohabit in the same person and are magnified one to another in terms of common pathophysiological pathways. Atherosclerosis, arrhythmias, stroke and heart failure are common and are the final pathologic end-points and explains why cardiovascular diseases occupy first place in mortality in Mexico and worldwide. The costs of care for these diseases are billionaires and if we do not generate appropriate strategies, their global impact can become a high threat to social development of the country. The life style like nutrition, sports habits of the Mexicans must be emphasized; there is poor education about this crucial topic. This position paper is focused on the principal controversies and strategies to be developed by all, government, society, physicians, nurses, patients and all people related with healthcare of hypertension, in order to confront this huge public health problem in Mexico.

The European Society of Cardiology (ESC) and the European Society of Hypertension (ESH) jointly developed a series of hypertension guidelines in the years 2003, 207 and 2013. The most recent guidelines were issued by the two societies in August this year (2018) and were published in the European Heart Journal. The new guidelines are printed in more than 90 pages and cover almost all aspects of hypertension based on extensive review of literature giving highest priority to data from randomized controlled trials and well conducted meta-analysis. In important areas where there is inadequate or no evidence, guidelines authors resort to expert opinion. The text was developed over approximately 24 months and was reviewed by representatives of ESC and ESH national hypertension societies. Although it is less than five years since the last hypertension European guidelines in 2013, the recent 2018 guidelines show important differences in diagnosis and treatment strategies with the addition of new sections and recommendations on management of hypertensive emergencies, hypertension in women and pregnancy, different ethnic groups, chronic obstructive pulmonary disease, cancer therapies, peri-operative management, sexual dysfunction and perioperative management.

Introduction: Hypertension is a silent pathology in a way that affects all four spheres to be considered as such; magnitude, transcendence vulnerability, and feasibility. The World Health Organization estimates that 45% of deaths from heart disease and 51% of deaths from stroke globally are caused by hypertension. Material and method: A longitudinal, descriptive and quantitative observational study was carried out on the personnel of high-risk public service providers. Results: The total population sampled was 550 people where it was possible to determine the sex where the disease predominates, since 92% of the hypertensive population belong to the male sex, while 8% of the female population. 57% of the total population were classified as normotensive, while 21% were classified as High Normal, Grade I Hypertension, and Grade II Hypertension. Discussion: AHT is the result of a series of interactions between endogenous and exogenous factors in an organism that tries to adapt to the increase of the cardiac output and the peripheral resistance of the blood vessels, which is manifested by the increase in blood pressure figures. Physical activity has been shown to have a lower risk of hypertension compared to sedentary individuals. The daily stress these workers face predisposes them to suffer their manifestations as headache, muscle pain, fatigue, digestive disorders and constant elevations of blood pressure.

Introduction and goal: From the perspective of Islam, spiritual health means having a Sound Heart (a calm, confident and optimistic soul, with hope for God’s mercy, satisfaction with destiny and vitality). The way to achieve spiritual health is strengthening the faith and taking good deeds based on religious spirituality. This study was conducted with the aim of determining the impact of spiritual health (Sound Heart) on the other aspects of health at different levels of prevention. Methods: In nine phases of research in 16 years, after designing and validating the “Sound Heart Model”. The spiritual problems of patients and healthy clients were determined. Spiritual care guidelines and the spiritual counseling model in patients and healthy clients were designed. Then “Parent’s Spiritual Empowerment Program”, “inter-professional spiritual health care training program” was extracted. Based on the findings of the previous steps, the effect of spiritual health on other aspects of health at different levels of prevention was extracted. Findings: Belief in God and divine love creates spiritual health (Sound heart) with wisdom, chastity, courage, justice, dignity, kindness, and sincerity in action. Faith prevents neglecting from the God’s remembrance and its consequences such as: unhealthy lifestyle, risky behaviors, destructive excitements, psychosocial diseases in clients and eliminates the fear, anxiety, sadness and disappointment in patients. Spiritual health causes living in the present time with patience and grace of God, creates hope, optimism for the future, courage to face life crises. By creating mental health, it improves the psycho-neuron-immunologic function and improves physical health. Conclusion: Considering the great impact of spiritual health on the other aspects of health at all levels of prevention, it is imperative that students and health care staff, by referring to these concepts, carry out spiritual care/counseling.

Multiple studies have investigated the relationship between androgenetic alopecia and cardiovascular disease, including studies that have identified elevated rates of cardiovascular disease in patients with vertex hair loss, vertex and frontal hair loss, early onset hair loss and rapidly progressive hair loss. In addition, increased risks for hypertension, excess weight, abnormal lipids, insulin resistance, carotid atheromatosis and death from diabetes or heart disease have been reported in this population. Studies investigating an association between androgenetic alopecia and metabolic syndrome have yielded conflicting findings. Distinct guidelines for the detection and prevention of cardiovascular disease in individuals with androgenetic alopecia have not been established. In addition to the traditional risk factors for developing cardiovascular disease, included in the definition of the metabolic syndrome, several skin diseases have recently been shown to be markers of conditions relating to the patient’s overall health. Physicians should be aware of the possible connection between relatively frequent skin diseases, such as psoriasis and hair growth disruptions, including androgenetic alopecia and female pattern hair loss and cardiovascular disease. This review is concentrated on the association between insulin resistance, type 2 diabetes, abdominal fat, cardiovascular disease and hair growth disruptions as an early indicator of these underlying conditions. We have investigated the importance of robust primary clinical treatment measures to address the manifestation of hair loss due to a disruption caused by metabolic syndrome as an effective means to alleviate further stress induced hair loss, which can exacerbate the underlying cause.

Alopecia is associated with an increased risk of coronary heart disease, and it appears that there is a relationship between the degree of hair loss and the risk of coronary heart disease, meaning, the greater the severity of alopecia, the greater the risk of coronary heart disease. Alopecia is also associated with an increased risk of hypertension, hyperinsulinemia, insulin resistance, metabolic syndrome as well as elevated serum total cholesterol and triglyceride levels. It has not been definitively established whether patients with androgenetic alopecia have a higher cardiovascular risk or prevalence of metabolic syndrome, and results of recent studies indicate that androgenetic alopecia patients do not show differences in insulin resistance or the prevalence of metabolic syndrome. However, androgenetic alopecia patients do show a higher cardiovascular risk, characterised by increased inflammatory parameters and Lp(a) levels. Data collected from female populations are scarce, but it would be interesting to extend our clinical knowledge with this type of data to further our understanding of the connection between androgenetic alopecia, metabolic syndrome and cardiovascular risk. The divergence in results from different studies done in this context may simply be a result of the composition of the study populations with respect to age, gender, severity of alopecia, sample size and perhaps ethnicity. In this connection, a large group of androgenetic alopecia patients is necessary, including different representative groups and varying severities of alopecia. Furthermore, it is recommended that all women and men with androgenetic alopecia be thoroughly examined and that lifestyle changes are made early on to reduce the risk of various problems associated with metabolic syndrome, since androgenetic alopecia can be considered an early marker of metabolic syndrome.

Broad-spectrum sunscreens are now widely used worldwide as an adjunct to help prevent sunburn, skin cancers and premature skin aging. In the United States, all persons older than 6 months are recommended to apply sunscreen to all sun-exposed skin from toes to head except eyes and mouth even on cloudy days. Such a recommendation is apparently based on concepts that exposure to sunlight damages the skin, the damage is cumulative and hence any sun exposure should be minimized or prevented. This communication raises several questions suggesting that the above recommendation may need to be reconsidered. For example, numerous previous studies have indicated many potential health benefits from non-burning sun exposure including protection against sunburn, melanoma, colorectal cancer, breast cancer and prostate cancer, increasing vitamin D synthesis, helping sleep, reducing blood pressure, heart attack and stroke. Recent studies suggested that regular lifetime non-burning sun exposure may not result in premature skin aging and the skin aging is mainly caused by the intrinsic factor. Skin aging or whole-body aging has been recently postulated to be mainly attributed to a gradual reduction in cardiac output/index with age and a new anti-aging or age-reversing nutritional theory has been proposed. An apparent lack of long-term cumulative sunray damage was also supported by reported age independence in incidences of sunburn and skin cancers. It is of interest that the current US policy is different from that of World Health Organization and Australia recommending the need of sun protection only when UV Index is 3 or greater. In view of the above, some general guidelines regarding when to best apply sunscreen are proposed.

Zinc induced pediatric preventing respiratory 2019-nCoV is required that supplementation with zinc gluconate 20 mg in Zn deficient children resulted in a nearly twofold reduction of acute lower respiratory infections as well as the time to recovery. Zinc supplementation in children is associated with a reduction in the incidence and prevalence of pneumonia. Preventing 2019-nCoV pneumonia is required that zinc supplementation alone (10 to 20 mg) for more than 3 months significantly reduces in the rate of pneumonia. zinc pediatric intake may be required to be effective range 10～20 mg/d for 2019-CoV prevention, 10～30 mg/d for reduction of COVID-19 bronchitis, and 20～30 mg/d for recovery from COVID-19 pneumonia, in which Zn2+ could bind with viral surface proteins by Zn2+ions-centered tetrahedrally coordination pattern. On the other hand, for aults, the zinc-homeostatic immune concentration may provide a protective role against the COVID-19 pandemic, likely by improving the host’s resistance against viral infection. 50 mg of zinc per day might provide an additional shield against the COVID-19 pandemic, possibly by increasing the host resistance to viral infection to minimize the burden of the disease. In order to prevent that an outbreak of respiratory sickness caused by a novel coronavirus (COVID-19) has become a serious public threat and disrupted many lives,assessing the efficacy of FDA-approved Zn-ejector drugs such as disulfiram combined with interferon to treat COVID-19 infected patients has been proposed. The key strategies for preventing lung damages include avoiding direct lung infection, altering host-virus interactions, promoting immune responses, diluting virus concentrations in lung tissues by promoting viral migration to the rest of the body, maintaining waste removal balance, protecting heart function and renal function, avoiding other infections, reducing allergic reactions and anti-inflammatory. The interactions had been found on the binding specificity by Zn2+ ions-centered tetrahedral geometric coordination of the inhibitors against 3C and 3C-like proteases. In addition, transient zinc chelation TPEN and EPDTC have been noted as preventing virus replication. Zinc-induced ROS production in COVID-19 respiratory ailment and pneumonia occurs both in children and adults. In children. ROS production in zinc (Ⅱ)-immune pediatric patient with COVID-19 bronchitis and pneumonia cannot be elucidated yet. In adults, zinc induced ROS generation in pulmonary COVID-19 infected cells is that alterations of ROS-producing and scavenging pathways that are caused by respiratory viral infections are implicated in inflammation, lung epithelial disruption, and tissue damage, and, in some cases, even pulmonary fibrosis. The involvement of oxidative stress in cell deaths caused during RNA virus infection and ROS production is correlated with host cell death.

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is the most severe form of congenital malformation of the inner female reproductive tract. It is diagnosed as such when the uterus, the upper vagina and optionally the Fallopian tubes are absent. It accounts for approximately 1 in 5000 live-born females and has been classified in two subtypes: type 1 in the presence of isolated uterovaginal aplasia and type 2 when associated in various combinations with extragenital malformations of the kidneys, skeleton, heart and auditory system. Most cases of MRKH syndrome are sporadic, although a significant number of many familial cases have been reported to date. Despite numerous studies, the genetics of the syndrome remains largely unknown and appears to be heterogeneous: chromosomal abnormalities and some candidate gene variants appear to be associated with a few cases; others have been suggested but not yet confirmed. To date, mainly the GREB1L gene appears to be a serious candidate. Among the remaining hypotheses, the controversial contribution of partial duplications of the SHOX gene is still puzzling, as the deficiency of this gene is a major cause of skeletal adysplasia syndromes. We have attempted to resolve this controversy in a study of 60 MRKH cases. Our results tend to show that SHOX duplications can be the origin of a genetic mechanism responsible for MRKH syndrome.