Medicine Research Proposal Sample on Heart Genetic Disorders Affecting Sport Activities


Heart Genetic Disorders Affecting Sport Activities


Every individual has a fundamental right to health, which is a cornerstone of the economic and social development of the world today. However, the commitment towards ensuring that every individual is healthy has been jeopardized by myriads of complications, such as inherited heart disorders. The mortality rate attributed to genetic heart disorders continues to rise annually, and this has prompted interventions from major international bodies, such as the World Health Organization (WHO). Essentially, good health is paramount to the realization of the full potential of an individual, although the disorders remain a significant barrier to the achievement of the same worldwide. For a long time, scientists have shared the sentiment that one of the most efficient and best medicines for inherited heart complications or disorders is the participation in physical or sports activities. Other than the direct impact that sports activities have on the improvement of genetic heart disorders, they can also act as means of mobilizing resources for the alleviation of the same although the latter is only at a stage of realization. In the same vein, sports activities provide support for the strategies aimed at improving diets and minimizing the consumption of drugs and other substances that only worsen inherited heart disorders. The World Cup and the Olympics each held after every four years bring athletes together, and these platforms enhance their awareness on ways of curbing global menaces, such as genetic heart disorders. However, the participation in sport or physical activities by individuals has been hampered by busy schedules. Several people do not take time to participate directly in sports activities to keep fit and prevent incessant inherited heart disorders including coronary heart disease, heart failure, stroke, congenital heart disease, and cardiomyopathy.

With the above perspectives in mind, this literature review is going to provide appropriate information on the literature focusing on heart genetic disorders affecting sports activities. The information on the topic will be divided into three sections, which are representations of the three common themes found throughout the study. One of the themes in focus is the impact of physical activity on inherited disorders. It is argued that persons with inherited heart disorders should not participate in physical activities because of the potential fatal consequences. Therefore, this section explains how persons with heart genetic disorders are affected when they take part in sports and other physical activities. Another theme discussed in this literature review is athletics on inherited disorders, which connects back to the previous theme. In addition, this literature review focuses on the different types of inherited heart disorders. These themes reflect the literature of the research topic and they are explained in details below.  

Inherited Heart Disorders

While reading the literature, a prominent theme found was that of inherited heart disorders. Several inherited disorders result in heart complications that reduce the time spent by individuals in sporting activities. A common inherited disorder is the Brugada syndrome, which compromises the rhythm of the heart and it could lead to cardiac arrests (Buxton, 2013). The latter can be attributed to several deaths worldwide, particularly of athletes barring them from participating in sports activities. In addition, the long QT syndrome results in rapid and chaotic heartbeats that result from QT interval. There is a correlation between swift and chaotic heartbeats and mortality, and this has seen the loss of several sports personalities. Similarly, the short QT syndrome is an inherited disorder that leads to shortened heartbeat intervals and can result in arrhythmias. A prolonged occurrence of arrhythmias can lead to death. Another inherited disorder is catecholaminergic tachycardia, which is an abnormal condition of calcium channels and results in irregular heartbeats, particularly during physical exercise or participation in sports activities (Buxton, 2013).

In addition, atrial fibrillation is a common disorder that leads to stroke and subsequent death (Buxton, 2013). Heart murmurs are also inherited disorders, and they are sounds made by blood during its circulation through blood vessels. Despite their normalcy, the murmurs may be triggered by the participation of an individual in vigorous physical or sporting activities and they could lead to heart failure. Routine involvement or participation in strenuous physical activities results in abnormal heart murmurs that can lead to the exclusion of individuals from getting involved in sports activities. As recommended by medical practitioners, once individuals establish heart murmurs, it is imperative to refrain from strenuous or vigorous physical exercises that often increase the stress mounted on the heart, a definite causal factor of heart failure. Heart murmurs are inherited, and could prompt an individual involved in sports activities to refrain from the same for certain duration to fix the complication. On the other hand, in the case where heart murmurs carry a risk of sudden cardiac death, an individual involved in sports activities may be forced to stay off the field for his or her entire life (Buxton, 2013).

Cardiomyopathy is another inherited heart disorder that causes deaths annually, particularly for individuals participating in sporting activities. Cardiomyopathy is a condition that either is confined to the heart or is part of generalized systemic disorders and it results in cardiovascular death or heart failure (Maron et al, 2006). Primary cardiomyopathies can be classified into hypertrophic cardiomyopathy (HCM) and Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D). HCM is a common genetic heart disorder and is considered the most frequently occurring form of cardiomyopathy among individuals. HCM results in heart failures, which lead to sudden death of individuals and this includes trained and professional athletes. The fact that HCM leads to the death of athletes underlines its effect on sporting activities and the future participation in it. HCM is also responsible for primary cardiac glycogen storage diseases in adults as well as older children; this has hampered their involvement in sports or physical activities. On the other hand, ARVC/D is a less prominent form of genetic heart disease, which is experienced when there is a progressive loss of myocytes and replacement of the fatty or fibrofatty tissue on the right ventricle. Despite its close association with myocarditis, ARVC/D is not recognized or considered a primary inflammatory cardiomyopathy. ARVC/D also causes sudden death in trained athletes and the fact that it affects sports activities is underscored. In the same line, ARVC/D could result in heart complications that in the long run could force the withdrawal of individuals from sporting activities. The diagnosis of ARVC/D should consider the family and personal history of the affected individual as this would help determine whether future generations of the family will be affected by similar genetic heart disorders.

Athletics on Inherited Heart Disorders

Another theme that came up while reading the literature was the relationship between athletics and inherited heart disorders. The mimicry of several features of genetic and acquired heart disease can be attributed to the association between athleticism and physiologic cardiovascular remodeling (Paterick et al, 2014). One of the biggest dilemmas is distinguishing abnormality and normality in the physiologic remodeling of the heart of an athlete or individual who engages in physical activities. A common genetic heart disorder is enhanced cardiac output, which is often heightened or worsened by intense physical exercise. The heart of an athlete or individual who frequently participates in physical activity can range from 40 beats per minute when at rest to 220 beats per minute when at the peak of exercise. Rapid changes in heartbeats can account for increased cardiac output, which could cause death or prevent individuals from participating in physical or sports activities. Another genetic heart disorder, also known as continuity disease, is hypertension, which can result in compromised aortic pressure giving negative feedback to the atria and ventricles and subsequent death (Paterick et al, 2014). Incessant hypertensions could hamper individuals’ participation in sports activities and could result in death. To prevent the effects of hypertension on athletes and their possible withdrawal from sports activities, Paterick et al (2014) articulate that a comprehensive evaluation of the health profile of an athlete, medical history and family history is essential. The background information on the same paves the way for the performance of necessary tests on athletes or individual who take part in sports activities. 

Sudden deaths of young people especially athletes are devastating to not only the affected families but also the whole community. Myriads of the sudden deaths of the young people are attributed to genetic heart disorders, which play a role in abnormalities, such as hypertrophic cardiomyopathy and arrhythmogenic (Ingles and Semsarian, 2007). One of the genetic heart disorders that result in the mentioned defects is the coronary artery disease. The latter leads to heart complications for several individuals and athletes annually barring them from participating in physical and sports activities. The coronary heart disease, which is a genetic heart disorder, results in over 450,000 cardiac deaths annually and out of this figure, a larger percentage is athletes. Other genetic heart disorders that impact athletics negatively through deaths or heart complications for individuals participating in the same include hypertrophic hypertrophy, myocarditis, congenital heart disease, and aortic dissection. These disorders are as a result of genetic abnormalities and hence the concern among health clinicians on ways of addressing them. It is imperative that a critical evaluation of an individual suffering from coronary heart disease and those mentioned above should consider a thorough scrutiny and analysis of the family history.

Cardiac malformations that result in sudden deaths can be attributed to genetic heart disorders, such as congenital heart defects (CHD). The latter’s prevalence stands at 4-5 per every 1000 persons, although this figure might be higher than expected (Pierpont et al, 2007). CHD results in cardiac malformations, such as the bicuspid aortic valve, which is associated or rather linked to considerable mortality and morbidity for individuals, particularly those participating in sports activities. Bicuspid aortic valve is a condition that hampers individuals from participating in sporting or physical activities up to a time when they fully recover from it. Besides, it could result in death as seen in the recent years and this has significantly affected sporting activities. Other cardiac malformations caused by CHD include isolated aneurysm of the atrial septum and persistent left superior vena cava. These occur in live births, with 5-10 deaths per 1000 being recorded. Moreover, Ventricular septal defect (VSD) is a cardiac malformation that compromises the normal functioning of the heart thus, participation in physical or sports activities is often in jeopardy. Very few individuals with the cardiac malformations caused by CHD participate in sporting activities (Pierpont et al, 2007). The need to address the challenges facing sporting events today has prompted the critical evaluation of individuals exhibiting CHD as well as their family history. The number of sports personalities lost from CHD could be reduced significantly through extraordinary diagnostic precision and definitive therapies.

Impact of Physical Activity on Inherited Disorders

The impact of physical activity on inherited disorders was the other theme found while reading literature on the topic. Participation in physical exercise or activity plays an integral role in the prevention of genetic heart diseases such as coronary artery disease (CAD). Physical activities that aid in the prevention of CAD include running, swimming and walking (Thompson et al, 2003). The achievement of this objective depends on the fact that cardiovascular adaptations are produced, and thus increase the strength of the skeletal muscle, endurance and exercise capacity. Regular participation in physical exercises or activities plays a role in the reduction of risks such as type 2 diabetes, obesity, depression and osteoporosis. Currently, the increase in mortality rates associated with heart disorders can be attributed to coronary artery disease. The latter is seen to result in the reduction of time that is spent by individuals in physical activities due to the perceived risks. In extreme cases, CAD results in the death of individuals including trained athletes, this negatively impacts on sports activities. In recent years, the increase in cases of CAD has been accompanied by a significant decrease in the number of individuals who participate in sports activities. One of the health effects of CAD is that it could result in heart complications, and this could prompt the withdrawal of individuals from sports activities only to return after full recovery. The fact that CAD has significantly affected sports activities has seen the embrace of interventions aimed at alleviating the disorder (Thompson et al, 2003).

There is a correlation between cardiovascular health and physical activity, and this means that an individual’s failure to participate in physical activities could jeopardize his or her cardiovascular health (Maron et al, 2001). Physical inactivity is the primary cause of risk factors, such as coronary heart disease and adverse cardiovascular complications. To address the mentioned complications, clinicians recommend frequent involvement in aerobic exercise, which has been promoted worldwide. Unfortunately, the fact that individuals have busy schedules has hampered involvement or participation in the aerobic exercise and this has seen a rapid increase in cases of genetic heart disorders such as coronary heart disease. CHD may trigger the sudden death of individuals, particularly those trained athletes or myocardial infarction and this may be coupled with underlying heart conditions. The implication of this is that individuals who join physical or sports activities late may be forced to withdraw or may succumb to the complications caused by the mentioned disorders. In recent years, the focus has been on how to address the risk of sudden deaths, which are often associated with participation in sports or physical activities.

It is recommended that individuals with cardiovascular diseases should not participate in competitive sports activities because of the imminent risks, such as death or heart failure. In line with this argument, sports or physical activities are affected negatively because of a reduction in the number of people participating in the same. A common genetic heart disorder that is relevant to athletes as a cause of sudden deaths or morbidity is atherosclerotic coronary artery disease. On several occasions, athletes have harbored various inherited heart diseases, and this has often led to sudden and unexpected deaths. Without a doubt, sports or physical activities have been dealt a major blow because of the rapid increase in the morbidity and mortality rates attributed to genetic heart diseases such as atherosclerotic coronary artery disease.

Athletes with incessant cardiovascular complications or diseases are at risk of sudden cardiac deaths or deterioration in health conditions (Pelliccia et al, 2005). This is based on the fact that regular participation in sports or physical exercise could strain the heart, resulting in its failure in the long term. It is common that athletes or other individuals exert themselves physically, and at times supersede their limits with the aim of having an improved performance. One of the genetic heart disorders that affect sports or physical activities is congenital heart disease (CHD). Individuals or athletes with CHD may expose themselves to mental stress or upper limits of physical stress and this could worsen the CHD leading to death or heart failure (Pelliccia et al, 2005). Another genetic heart disorder that impacts negatively on sports activities is arrhythmias (Pelliccia et al, 2005). By undergoing extensive ventricular or atrial surgeries, individuals are often at risk of arrhythmias because of ventricular and scarring dysfunction. Later in life, the transventricular repair could influence the exclusion of individuals from sports activities, and thus, the fact that certain genetic heart disorders affect sports activities is underscored. In the same vein, patients with a history of frequent and complex tachyarrhythmias are often advised to refrain from sports activities (Pelliccia et al, 2005). Impairment of ventricular function is another genetic heart disorder that affects sports activities and this is because it reduces exercise tolerance prompting patients to refrain from practices. Pulmonary vascular resistance also influences the withdrawal of individuals from sports or physical activities (Pelliccia et al, 2005). Involvement in sports activities increases pulmonary arterial pressure, which in turn increases systolic pressure. This could result in death or heart failure, thus, the withdrawal of individuals with pulmonary vascular resistance from sports activities is strongly supported. Other heart disorders that force individuals to refrain from sports activities include dysfunction of the valves, conduits and mechanical valves, abnormal exercise blood pressure response and prophylaxis of endocarditis. Therefore, the evaluation of individuals at an early stage is recommended to provide information on the potential risk factors and the way participation in physical or sports activities could worsen the situation for individuals.

Recent years have seen a significant increase in the cases of deaths of young competitive athletes, and this has had negative implication on the global community Maron et al, 2007). The deaths of young athletes can be attributed to unsuspected cardiovascular diseases and the fact that those with the diseases continue to participate in sports activities. There is likelihood that participation in sports activities by patients with various heart genetic disorders exposes them to intense training and competition, this increases the risk of sudden or unexpected cardiac death. The increased risk for young athletes has prompted their withdrawal from sports activities, and the latter has been adversely affected. To prevent the risks that young athletes may be exposed to when they participate in sports activities, it is imperative that pre-participation screening should be carried out. Besides, the implantation of cardioverter-defibrillators or the capitalization on other therapeutic interventions could also be essential.

Moreover, sports activities have been significantly affected by the sudden deaths of young competitive athletes because of the genetic heart disorders. The rapid increase in the mortality rates for athletes in recent years can be attributed to cardiovascular diseases, which are genetic and this affects the sports industry worldwide (Maron et al, 2009). Arguably, when patients with cardiovascular disease participate in sports or physical activities, the heart is strained and this could lead to heart attacks or death. On several occasions, because of heart attacks, athletes have been forced to refrain from sports activities until they recover completely. Uncountable lives of athletes have been lost as a result of heart attacks triggered by participation in sports activities.

Participation in physical exercises or training can be linked to the morphological heart changes, such as increased mass, wall thickness, and the size of the left ventricular chamber (Pluim et al, 2000). People who participate in sports activities with a high dynamic component, such as running, are likely to develop increased size of the ventricular chamber with a rise though proportionally, of the wall thickness. However, when individuals with the cardiovascular disease are involved in physical or sports exercise, they could put themselves at risk because of the possible pressure and strain of the heart. The latter may result in sudden death or further complications of the heart. The potential risks associated with genetic heart disorders have influenced the withdrawal of individuals from physical or sports activities.


In summary, it has been stated widely that the involvement or participation in physical activity coupled with appropriate diets leads to an individual’s healthy lifestyle. Moreover, another way of keeping fit is ensuring that the condition of the heart is checked and evaluated frequently to determine possible complications or vascular diseases. Despite the significance of physical or sports activities to patients with cardiovascular diseases, the exposure to other risks has jeopardized the involvement or participation of individuals in sports activities. For instance, it is argued that frequent engagement in exercise could result in mental stress, an increase in the heartbeat rate, depression and others that impact negatively on the normal functioning of the heart. These could lead to heart failure or death in extreme cases, and thus, the participation of individuals in sports activities will be jeopardized. It is recommended that individuals suffering from inherited cardiovascular diseases should refrain or halt their involvement in sports activities. Instead, they should opt for other alternatives, such as maintaining healthy diets devoid of high sugar content and fat. The effect of genetic heart disorders on sports activities can be addressed or alleviated and one of the ways is ensuring that involvement in strenuous physical activities and exercises is re-examined. Although sports activities provide support for the strategies aimed at improving diets and minimizing the consumption of drugs and other substances that only worsen inherited heart disorders, they contribute significantly to the worsening of cardiovascular diseases or complications and thus the lives of athletes are put at risk. Some of the genetic heart disorders affecting sports activities include congenital heart disease, long QT syndrome, Brugada syndrome and several others.


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