New information on a heart problem that is present in many of the adult patients with myotonic dystrophy – atrial flutter. This is the heart beating too fast in the upper chambers of the heart. This new information from France gives an over view and possible treatments for this symptom. Sorry the whole article is not available for free!
When my son was born I had no idea that he would be an Over 5 Million Dollar Man.But he was born as a premmie and our medical bills started even before Day 1. The major cost of the disease concentrations on respiratory symptoms. For young people with this disease a strong effort is made to stabilize and improve respiratory function. The recovery period for individuals with this disease is very lengthy.
Moms confinement before delivery $200,000
85 day NICU stay $1,400,000
Ear Tube Placements (8) 40,000
Special Education Grade 0-6 200,000
Heel Cord Surgery 25,000
Special Education grade 7-14 210,000
Caregivers state of Ca 2012-2016 450,000
Hospitalization 2010 (80 days) 875,000
Hospitalization 2015 (79 Days) 850,000
Hospitalization 2016 (89 days) 950,000
Cardiac Monitoring 40,000
Currently we are at US$5.2 Million in Hospital and Medical Care for him. The insurance has picked up all the costs incurred, but still its a high price.
In the USA the incident of congenital myotonic dystrophy is 1/100,000. That computes to about 3,500 individuals with the disease. At a five million dollar overall cost the math computes to an overall projected cost could top 18.2 billion.
If the 5 million is a outlier the cost would still be in the neighborhood of $10 billion overall cost. That’s a very high cost to society.
Editors note: This article was written in 2002 approximately 10 years ago. Its a review but more current information must be reviewed as well
MYOTONIC DYSTROPHY AND THE HEART
Myotonic dystrophy (dystrophia myotonica, DM) is the most frequently inherited neuromuscular disease of adult life. DM is a multisystem disease with major cardiac involvement. Core features of myotonic dystrophy are myotonia, muscle weakness, cataract, and cardiac conduction abnormalities. Classical DM (first described by Steinert and called Steinert’s disease or DM1) has been identified as an autosomal dominant disorder associated with the presence of an abnormal expansion of a CTG trinucleotide repeat on chromosome 19q13.3 (the DM 1 locus). A similar but less common disorder was later described as proximal myotonic myopathy, caused by alterations on a different gene on chromosome 3q21 (the DM2 locus). This article will mainly focus on DM1. It will provide an insight into the epidemiology and genetic alterations of the disease and provide up-to-date information on postmortem and clinical findings and on diagnostic and therapeutic options in patients presenting cardiac involvement.
EPIDEMIOLOGY AND CLASSIFICATION OF DM1
The incidence of DM1 is estimated to be 1 in 8000 births and its worldwide prevalence ranges from 2.1 to 14.3/100 000 inhabitants.1 Based on the age of onset and on its clinical features, DM1 can be divided into three forms: congenital, classical, and minimal, which may occur in the same kindred.
An invasive strategy, based on prophylactic permanent pacing, is associated with longer survival for patients with myotonic dystrophy type 1.
Karim Wahbi, MD, of Pitié-Saltpêtière Hospital in Paris, and colleagues conducted a retrospective study of 914 consecutive patients (>18 years) with genetically confirmed myotonic dystrophy type 1 who were admitted to the hospital from 2000–2009. Of the 486 patients whose electrocardiogram showed a PR interval >200 ms or a QRS duration >100ms, or both, 70.2% underwent an invasive treatment strategy based on systematic electrophysiological studies and prophylactic permanent pacing and 29.8% underwent a noninvasive strategy.
During a median of 7.4 years of follow-up, the researchers found that 50 patients in the invasive strategy group and 30 in the noninvasive strategy group died (hazard ratio [HR], 0.74; P=0.19), corresponding to an overall nine-year survival of 74.4%. Adjusting for between-group differences in baseline characteristics, the invasive strategy was associated with significantly longer survival, with adjusted HRs ranging from 0.47–0.61. The survival difference was mainly due to a reduced incidence of sudden death, which occurred in 10 patients in the invasive strategy group vs. 16 patients in the noninvasive strategy group (HRs ranging from 0.24–0.28).
“Among patients with myotonic dystrophy type 1, an invasive strategy was associated with a higher rate of nine-year survival than a noninvasive strategy,” the authors write.
One author disclosed financial ties to the medical device industry; one author disclosed financial ties to Genzyme.
Myotonic Dystrophy is a type of Muscular Dystrophy. The heart is a kind of muscle so you would think it would be affected. The heart is affected but not in the way that you think. The heart muscle cell is not affected what causes the problems in myotonic dystrophy is the electrical conduction of the heart. The heart has an electric circuit like your car. Think of the problems like the circuit is not sending the proper signals to the engine to fire the cylinders at the right time. Sometimes the signals are too slow. Sometimes they are too fast. Sometimes they dont signal at all. Click the link below for a brochure on this topic People that have either myotonic dystrophy or the congenital form are at a high risk of developing life threatening heart problems. There is a correlation between the number of repeats for the diseases and the severity of the cardiac problems. Eleven percent (11%) of patients in a recent study died suddenly from what is believed to be cardiac problems. Another 28% had cardiac problems of one type or another. Heart Problems in Myotonic Dystrophy
Although coronary heart disease is not increased in DM patients, there is a greater than average occurrence of disturbed conduction issues among DM1 and DM2. The cardiac conduction defects are usually characterized by palpitations, fainting or near fainting spells can occur and should never be ignored. These can be fatal. These
Dr. William Groh in Indianapolis, IN USA is the recognized expert in the cardiac care of patients with myotonic dystrophy. Cardiac disease in MMD1, Groh says, is nearly always conduction disturbance, resulting from the gradual replacement of the heart’s conductive tissue with scar tissue, a process known as cardiac fibrosis. It’s the conduction of electrical signals that move through the heart that first disturbed in patients with myotonic dystrophy,
Conduction disturbance can lead to abnormal heart rhythms called arrhythmias. Arrhythmias that are too slow sometimes require a pacemaker that delivers regularly timed electrical impulses to bring the heart rate up to normal.
When the heart rhythm is too fast, an implantable defibrillator can deliver an electrical shock to restore a normal heart rhythm. These are called ICD’s
the underlying problem with the heart in myotonic dystrophy s fibrosis and abnormalities in the heart that seem to specifically and primarily affect the conduction system, the specialized tissue that allows for electricity to flow through the heart. It leads to a higher risk of arrhythmias, and a small percentage of patients develop cardiomyopathy.”
The most serious arrhythmias are those that cause the lower chambers of the heart — the ventricles — to stop beating or to beat too slowly to sustain life; or to beat in a fast, uncoordinated and ineffective way. Both these fast and slow ventricular arrhythmias can lead to sudden death, and people with MMD1 unfortunately are at increased risk for that.
Here is a great video from the Library at the Myotonic Dystrophy Foundation. This video talks about the heart and the electrical issues in the heart with Myotonic Dystrophy
Pacemakers and Defibrillators: Pacemakers are generally used to manage a heartbeat that is too slow or irregular, caused by disorders that disrupt the heart’s normal electrical conduction system. This condition known as bradicardia can cause inadequate blood flow through the body creating symptoms such as fatigue, dizziness, and fainting.
|CK Recommendations for Patients with DM from Scottish Workgroup
*This information was copied from the evidence based clinical guidelines developed by the Collaborative Project Byall Scottish Clinical Genetics Services.