Familial Cardiomyopathies ( Fc )

Approximately, 1 of every 500 people is affected with hypertrophic cardiomyopathy, it is important for patients to understand the dynamics of the disease as it could potentially be life threatening. In most cases, the patients quality of life is not affected, but a few will experience symptoms that cause significant discomfort or undetected complications that could lead to sudden cardiac death. With that in mind, it would be beneficial to recognize what it is, specific causes, the steps of diagnoses, and the options for treatment.

As this disease progresses and the workload of the heart is consistently increased, ventricular hypertrophy occurs. At first, the hypertrophied heart muscles will increase contractility, thus increasing cardiac output; however, as hypertrophy of the ventricular myocardial cells continues, it begins to have poor contractility, requires more oxygen to perform, and has poor circulation from the coronary arteries. This can result in heart tissue ischemia and lead into cardiac dysrhythmias (Lewis et al. 2014, 768).

Young children who have hypertrophic cardiomyopathy tend to have no symptoms of their condition until

Cardiofaciocutaneous syndrome is a very rare and serious genetic disorder that generally affects the heart, facial features, and skin of an individual. It is caused by a desultory gene mutation, which takes place in one of four genes. Those genes are known as BRAF, MEK1, MEK2, and KRAS. From research, it is also suspected there is a possibility that other genes are associated with the rare condition. This disorder holds multiple alternative names, a long history, obvious symptoms, extensive amounts of interesting data, and is lucky enough to be supported by numerous organizations that will stop at nothing to help.

Takotsubo cardiomyopathy was first acknowledged in Japan in 1990 by Sato et al (Djuric 512). The United States did not have any report of Takotsubo until 1998 (Sharkey e460). Since 1998, scientific interest in Takotsubo has steadily increased. Dr. Scott Sharkey validates the increase in scientific interest: “In 2000, only 2 publications were recorded, compared with nearly 300 in 2010. Now, takotsubo is widely recognized, with reports form 6 continents and diverse countries” (e460).

Fackelmann’s report shows a case where Sergei Grinkov, a two-time gold medalist ice skater, collapsed and died from sudden cardiac death. She then explains that these deaths have struck athletes from high school team players to professional players. Hypertrophic cardiomyopathy (HCM) is the most common cardiovascular disease responsible for sudden death. In many cases physical exertion triggers sudden death. There is not a simple test to detect all cardiovascular diseases and screening is suggested in a family with a history of sudden cardiac death.

In cardiomyopathy the heart muscle becomes enlarged, thick or rigid, and in rare cases the muscle tissue can be replaced with scar tissue. As this disease worsens, the heart becomes weaker and unable to pump blood normally through the body and maintain a normal electrical rhythm. This can lead to heart failure or irregular heartbeats. The weakening of the heart also can lead to other problems such as heart valve problems. Cardiomyopathy can be acquired or inherited. It can affect people of all ages. There are various types of cardiomyopathy includes, hypertrophic, dilated, restrictive cardiomyopathy, Arrhythmogenic right ventricular dysplasia and unclassified cardiomyopathy. Some people with cardiomyopathy will never have any signs and symptoms. But in some people the signs and symptoms will develop in the early stages of the disease. As cardiomyopathy worsens and the heart weakens, signs and symptoms of heart failure usually occur. The signs and symptoms of cardiomyopathy includes, shortness of breath or trouble breathing, especially with physical exertion, fatigue, swelling in the ankles, feet, legs, abdomen, and veins in the neck. Other signs and symptoms may include dizziness, light-headedness, fainting during physical activity, irregular heartbeats, chest pain, especially after physical exertion or heavy meals, and heart murmurs. The treatment of cardiomyopathy include lifestyle changes, medicines, surgery, implanted devices to correct arrhythmias (National Heart, Lung, and Blood Institute,

Systolic heart failure results from the inability of the cardiac muscle to contract effectively from inadequate cardiac output. As the cardiac output drops, compensatory mechanisms to try to restore its function through takes place by ventricular remodeling. During this remodeling phase, the heart begins to develop changes in its size and becomes hypertrophic that results in a decreased ability of the heart to contract, decreased available oxygen, and available ATP. Secondly, this hypertrophic states increases preload that results

Through more research, dilated cardiomyopathy has been found to have a genetic component (MacRae, 2010). Though there have been families who have volunteered to be screened, there are still some 40 chromosomal loci and potential disease genes discovered so far. The reason for the wide range of variants of potential loci is due to how prevalent the disease is in families. For example, the more individuals who have been diagnosed with the disease, researchers were then able to find similar loci among the affected; whereas, the families who had fewer affected individuals laid a wider range of

Risk for having CAD or established CAD, previous MI or heart failure with decreased ejection fraction and ventricular arrhythmias are the known risk factors for SCD[17, 136]. The estimated incidence rate of SCD in infants, children, adolescents, and young adults is about 1.3 to 8.5 per 100,000 patient/years [137] but it still costs to thousands life per year. Sudden infant death syndrome accounting for approximately 10% of the crib death is believed to be due to cardiac arrhythmia or long QT syndrome [138]. A study suggest that out of 158 deaths of American athletes, 30% were due to hypertrophic cardiomyopathy and 13% due to abnormal blood circulation, 10% due to increased cardiac mass due to cardiomyopathy [139]. Another study suggest 20% death due to CAD and 10% deaths due to right ventricular cardiomyopathy/ dysplasia in young population [140]. Patients suffering from SCD with normal heart or without any cardiac disease history, on autopsy show structural abnormalities. Sudden unexplained deaths are also a major concern in epidemiology of SCD and careful post-mortem and histological examination can play a vital role [17]. In a study with 270 autopsies 55 were found to have structural heart disease and a specific cause for death were found in 180 cases with 65% having CAD, 14% with congenital anomalies and 11% with myocarditis. Left

According to Wung et al. (2013), there are two types of inheritable cardiac disease; channelopathies such as Brugada, long QT syndrome and short QT syndrome, and cardiomyopathies such as arrhythmogenic right ventricular cardiomyopathy. While channelopathies may be identified by characteristic ECG irregularities, some of these disorders may not manifest typical symptoms in genetic carriers (Wung et al., 2013). Genetic testing for those with vague symptoms such as syncope, arrhythmias of the ventricles, or those who have a history of SCD in the family may identify an underlying condition (Wung et al., 2013). If a genetic condition is identified in the affected person, the specific mutations can be identified with genetic testing and be used to identify at-risk family members who may then undergo cardiac monitoring, treatment and counseling

According to the US Census Bureau, population estimates in 2004, in the United States it is estimated that approximately .02% of the population is effected by hypertrophic cardiomyopathy. Which is two in

Hypertrophic Cardiomyopathy was discovered by Donald Teare, a pathologist, about five decades ago (1958). Over the last 50

A fine line exists between the harmless enlargement of athlete’s heart and the harmful consequences of HCM. Found in 1/500 individuals, HCM causes a “thickened septum which separates the left and right ventricles” (“Causes of Sudden Cardiac Death”). The myofibrils, the “contractile elements of the heart,” lose their proper orientation and become disorganized, causing the heart to beat ineffectively and leading to the thickening of the walls and structural issues. The thickness can limit flow to the heart and lead to arrhythmias and sudden cardiac death (“Causes of Sudden Cardiac Death”). In both HCM and athlete’s heart the left ventricle thickens; however the wall hypertrophy in HCM may extend to more than 20mm, compared to less than 16mm in athlete’s heart (Maron, Pelliccia, and Spirito). Careful analysis of echocardiographic and clinical features almost always “permits this diagnostic differentiation” (Maron, Pelliccia, and Spirito). As mentioned before, left ventricular end-diastolic cavity dimensions greater than 55mm are not uncommon in trained athletes, yet the diastolic cavity dimension remains small (55mm, making it possible to distinguish athlete’s heart from HCM based on cavity measurement and borderline wall thickness (Maron, Pelliccia, and Spirito). However, ECGs, due to their wide variance, cannot provide sufficient evidence to distinguish between the two heart conditions (Maron, Pelliccia, and Spirito). Although there are numerous methods to distinguish and diagnose HCM, it remains the leading cause of sudden cardiac death (SCD) among

Homozygous familial hypercholesterolemia is a genetic disorder inherited by parent or parents at birth in an autosomal dominant way. When the mutated gene is passed down through one parent it is known to be heterozygous but when both parents carry this mutated gene it causes a higher risk for the child to be born with a homozygous condition which is found to be a lot worse. Sufferers of Familial hypercholesterolemia also known as FH, have high amount of cholesterol from birth which in effect can cause early developmental problems with the heart in the future causing Atherosclerosis or CHD.