Treatments

Based on the most prevalent types of genetic cardiac diseases, we’ve given a short description of the procedure (or type of treatment) and a video from YouTube on this page. The information on this page will not only further your knowledge of the type of genetic disease you are interested in, but also help you prepare for an upcoming procedure if you are having or need one done.

Arrhythmogenic Right Ventricular Dysplasia\ Cardiomyopathy (ARVD/C)

The goal of treating ARVD is to decrease the incidence of sudden cardiac death through pharmacological, surgical, or catheter ablation methods and/or placing a implantable cardioverter-defibrillator. Prior to treatment, programmed electrical stimulation may be performed for additional prognostic information with the following goals in mind:

  • Assessment of the disease’s arrhythmogenic potential
  • Evaluate the hemodynamic consequences of sustained VT
  • Determine whether the VT can be interrupted via antitachycardia pacing

Regardless of which option the doctor chooses for the patient, a lifestyle modification must be implemented as well. The patient is recommended to avoid strenuous exercise and to refrain from the use of stimulants (i.e. caffeine, nicotine, etc.) and alcohol.

Brugada syndrome

Currently there is no exact treatment modality that reliably and totally prevents ventricular fibrillation (which occurs in Brugada syndrome). Hence, treatment lies in the termination of this lethal arrhythmia before it causes death. This is done via implantation of an implantable cardioverter-defibrillator(ICD), which continuously monitors the heart rhythm and will defibrillate an individual if ventricular fibrillation is noted. If a patient has coronary artery disease (CAD) in addition to Brugada, then he/ she may require an angiogram before an ICD can be implemented.

Recent studies have evaluated the role of Quinidine, an anti-arrhythmic drug, for decreasing VF episodes occurring in Brugada syndrome. The drug has been found to both decrease the number of VF episodes as well as correct spontaneous ECG changes, possibly by inhibiting Ito channels. However, further testing with Quinidine is warranted, and currently the drug is only being implemented under controlled experiments.

Cardiac Amyloidosis

Management of cardiac amyloidosis requires a 2-fold approach: management of the cardiac-related symptoms and treatment of the underlying disease. The mainstay of the treatment of heart failure in AL amyloidosis is the use of diuretics; higher doses than anticipated may be required if the albumin level is low, as a result of concomitant nephrotic syndrome. The definitive treatment of AL amyloidosis is antiplasma cell therapy, aimed at stopping the production of the paraprotein responsible for the formation of the amyloid. A number of chemotherapeutic regimens exist, but the highest success rate appears to be with the use of intravenous melphalan (with a complete hematologic response in ≈40% of patients who survive 1 year after chemotherapy). Nevertheless, despite the significant risk of death associated with the use of vigorous chemotherapy in patients with AL amyloidosis involving the heart, it should be considered in selected patients. This is because survivors often have a clinical improvement in congestive heart failure, despite an unchanged echocardiographic appearance.

In highly selected cases, cardiac transplantation may be considered. Early experience with cardiac transplantation in AL amyloidosis suggests that short- and medium-term mortality did not differ from that in other disorders, but a later report of a small series of patients treated at multiple transplantation centers demonstrated an apparently greater long-term mortality than expected. This is usually because of disease progression in the heart or noncardiac organs. As a result of these observations, many transplantation centers consider AL amyloidosis a contraindication to transplantation. However, with the advent of high-dose chemotherapy and stem cell transplantation, it is possible to transplant the heart and to perform chemotherapy 6 to 12 months later to abolish amyloid production. Potential candidates for this combined procedure are uncommon because noncardiac organ involvement is a contraindication and cardiac disease is limited clinically to the heart in <5% of cases. Nevertheless, a number of patients have been treated successfully with this combined approach; several have obtained a long-term remission from the disease without evidence of recurrence after 3 to 5 years of follow-up.

Cardiac Myxoma

The tumor must be surgically removed completely in order to assure that the tumor does not return. Also, in some patients, the mitral valve may need to be replaced (which can be done at the time of surgery).

Familial dilated cardiomyopathy

There are now medications available that can be used to control and, in some cases, even improve the heart condition. Standard therapy may include salt restriction, ACE inhibitors, diuretics, and digitalis. Anticoagulants may also be used. Alcohol should be avoided. In addition, there is some evidence recently that highlights potential benefits of using CoQ-10 (Coenzyme Q10) in treating heart failure. Other supplements that may be suggested by your doctor for use may include L-Carnitine, Taurine and D-Ribose.

For those patients that have intraventricular conduction delay an artificial pacemaker may be required, and an implantable cardioverter-defibrillator (ICD) for those at risk of arrhythmia. These forms of treatment have been shown to improve symptoms and reduce hospitalization stays. These two methods of surgery are only viable for those patients that do not exhibit life-threatening symptoms of the condition. For patients that do exhibit life-threatening symptoms, and are in the advance stage of the condition, a heart transplantation may be advisable as normal medical treatments will not translate any beneficial results.

Familial Valvular Heart Disease

There are numerous types of valvular heart diseases and treatment methods depend on which FVHD a patient has. Some of the major ones are listed below:

Aortic Stenosis

Patients with signs of aortic stenosis require Aortic valve replacement, as this is the only effective treatment that will relieve this mechanical obstruction. The decision for surgery is based on the presence of at least moderately severe aortic stenosis with symptoms or signs of left ventricular dysfunction. The prognosis with surgery is excellent, even for elderly patients.

Mitral Stenosis

In patients who are asymptomatic, an annual history and physical examination as well as a chest x-ray and ECG are recommended. Apart from endocarditis prophylaxis, no medical therapy is indicated. When mild symptoms develop, diuretics may be helpful in reducing left atrial pressure and decreasing symptoms. If atrial fibrillation develops, rate control is critical because tachycardia will further decrease left ventricular filling, reduce cardiac output, and increase left atrial pressure, leading to more symptoms.

In regards to surgical procedures, a balloon valvotomy for mitral stenosis provides excellent mechanical relief with long-term benefits. Open commissurotomy mitral valve reconstruction and mitral valve replacement improve survival and reduce symptoms. Lastly, those patients who are not good candidates for a valvotomy or a commissurotomy should not receive mitral valve replacing.

Aortic Regurgitation

Aortic regurgitation should be corrected if the symptoms are more than mild. Compelling evidence supports surgical correction before the onset of permanent left ventricular damage, even in asymptomatic patients. As in patients with mitral valve regurgitation, timing of surgical intervention correlates with a good outcome. In patients with chronic aortic regurgitation, surgery should be performed before the ejection fraction falls below 55% or the end-systolic dimension exceeds 55 mm.

Afterload reduction with vasodilators has been shown to improve left ventricular performance and reduce aortic regurgitation. Therapy with nifedipine (Procardia)- in particular – has been shown to delay the need for surgery by 2-3 years in patients with severe symptoms of Aortic Regurgitation, who continue to have a normal left ventricular function. Moreover, the surgical treatment of choice has been that of replacing the aortic valve with  a tissue or mechanical prosthesis. However, recently there has been interest in the use of autograft procedures and aortic valve reconstruction. Lastly, all patients with aortic regurgitation should receive appropriate endocarditis prophylaxis for selected procedures.

Mitral Regurgitation

In patients with chronic mitral regurgitation, left ventricular damage can occur while the patient remains asymptomatic. Therefore, surgery is indicated if left ventricular dysfunction has begun to develop (even in the absence of symptoms). Generally, the ejection fraction of patients with mitral regurgitation should be above normal as well as the end-systolic dimension. If the ejection fraction falls to below 60%, or the end-systolic dimension is above 45mm, then the prognosis is poor.

Properly timed surgery gives patients with mitral regurgitation a postoperative survival rate similar to that of the general population. No studies have demonstrated successful use of medical therapy, other than as prophylaxis against endocarditis, in the treatment of chronic mitral regurgitation. Also, since mitral valve repair has a lower rate of mortality associated with surgery and a better late outcome than mitral valve replacement, repair should be performed whenever possible. The success of mitral valve repair surgery also depends on the location and type of mitral valve disease that caused the mitral regurgitation.

Mitral Valve Prolapse

Patients diagnosed with mitral valve prolapse should be reminded of the low incidence of serious complications associated with the disease, and physicians should attempt to allay fears of serious underlying heart disease. Patients with mitral valve prolapse often respond to treatment with beta-blocking medications for some of the symptoms associated with the disease. In many cases, cessation of alcohol, tobacco and caffeine use may be sufficient enough to control symptoms. Use of antibiotics is an established practice as well with patients diagnosed with mitral valve prolapse. However, the use of such drugs is limited only to patients that have prolapsing and regurgitant valves, evidenced by audible clicks and murmurs or by mitral regurgitation shown by Doppler imaging.

Hypertrophic Cardiomyopathy (HCM)

Treating hypertrophic cardiomyopathy (HCM) depends on the presence and severity of the patient’s symptoms, how his/her heart is functioning, if he/she is suffering from abnormal heart rhythms, and their age and activity level. Treatment ranges from medications to surgery to ablation. Treatment of abnormal heart rhythms may include surgically implanting a pacemaker, or putting an implantable cardioverter defibrillator into the patient. In rare cases of severe heart failure, a heart transplant may be needed.

Genetic Testing

Genetic testing can help identify what is causing HCM in a family. When the first person in a family is tested, the person is typically checked for eight of the most common HCM-causing genes. About 60 to 70% of the time the test will identify the genetic cause. However, in the other 40 to 30%, the cause cannot be located. If genetic testing shows that you do carry the genetic change that causes HCM, then you are at increased risk for developing the symptoms and changes in the heart that are associated with HCM. This knowledge can help you make choices to preserve your health, such as avoiding strenuous exercise (which can make HCM worse and seeking regular care with a cardiologist).

Long QT Syndrome

With the correct diagnosis and therapy, long QT syndrome (LQTS) is a treatable disorder and most deaths are preventable. Many people with the condition can be treated with medication. A minority of patients need an implantable cardiac defibrillator.

Loeys-Dietz Syndrome

As there is no known cure, LDS is a lifelong condition. Due to the high risk of death from aortic aneurysm rupture, patients should be followed closely to monitor aneurysm formation, which can then be corrected with vascular surgery. Previous research in laboratory mice has suggested that the angiotensin II receptor (antagonist losartan), which appears to block TGF-beta activity, can slow or halt the formation of aortic aneurysms in Marfan syndrome. A large clinical trial sponsored by the National Institutes of Health is currently underway to explore the use of losartan to prevent aneurysms in Marfan syndrome patients. Both Marfan syndrome and Loeys–Dietz syndrome are associated with increased TGF-beta signaling in the vessel wall. Therefore, losartan also holds promise for the treatment of Loeys–Dietz syndrome.

Marfan Syndrome

Care of people with Marfan syndrome has significantly improved over the years. Most people will live a normal life span and have a good quality of life, though they will need more medical attention and treatment than the average person. Because Marfan syndrome affects several different parts of the body, patients need to see doctors who specialize in genetics, cardiology, orthopedics, ophthalmology and other specialties as needed. Most of the features of Marfan syndrome can be treated. Aortic dilation can be managed with medications, regular screening of the aorta by echocardiogram, and surgery to prevent aortic dissection. The eye features can be treated with glasses or, if needed, with surgery.

Noncompaction cardiomyopathy

There is no specific treatment for this condition at the moment. Early recognition is the most important key in treating & managing patients with noncompaction cardiomyopathy. Signs such as cardiac dysfunction prevent further complications. The types of treatment used for heart failure have also been used, with good results, in noncompaction cardiomyopathy.

Restrictive cardiomyopathy

Few treatments are known to work well for this condition and the main goal is to control symptoms and improve the patient’s quality of life. Below is a short list of treatments that are presently used to control symptoms, or prevent any severe complications from occurring:

  • Blood thinning medicines
  • Chemotherapy
  • Diuretics to remove fluid and help improve breathing
  • Medicines to prevent or control abnormal heart rhythms
  • Steroids for some causes
  • Heart transplant (if the heart functions poorly and symptoms are severe)

Sources

http://circ.ahajournals.org/content/128/1/e4.full

http://en.wikipedia.org/wiki/Main_Page

http://www.ucsfhealth.org/conditions/marfan_syndrome/index.html

http://www.cardiomyopathy.org/Left-ventricular-noncompaction.html

http://www.aafp.org/afp/2001/0601/p2201.html

http://circ.ahajournals.org/content/112/13/2047.full