Tag Archives: heart

Why do Myotonic Dystrophy Patients Die?

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Myotonic Dystrophy patients have a shorter lifespan according to this study from 2016. A comprehensive review shows an average age of death at about 60 years. Lung issues and Heart Issues are the major casues of death. Sudden cardiac failure occurs in 27% of patients.

 

April 05, 2016; 86 (16 Supplement) APRIL 20, 2016

Causes and Predictors of Mortality in a Large U.S. Myotonic Dystrophy Type 1 Adult Cohort (P5.077)

Julian Duda, Yedatore Venkatesh, William Groh
First published April 8, 2015,
 
 

Abstract

Background: There is limited data on the causes and predictors of mortality in patients (pts) with myotonic dystrophy type 1 (DM1) evaluated and treated with modern medical therapy in the U.S. Objective: To determine the epidemiology of mortality in U.S. patients with DM1. Methods: Analysis from a U.S. registry with clinically- and genetically-verified adult DM1 pts (age at entry≥18 yrs) enrolled at MDA clinics (1997-2005) and prospectively followed (study entry-N=406; age: 42±12 yrs; male: 205 (50.5[percnt]); CTG repeats: 629±386; muscular impairment rating score (MIRS): 3.2±1.0). Causes of death were adjudicated by death certificate and medical records review. Results: By last follow-up (11.2±4.2 yrs), 170 (41.9[percnt]) of pts had died with a median age at death of 55.4 yrs. Causes of death in the 170 pts were respiratory failure (90, 52.9[percnt]), sudden unexpected possibly cardiac (47, 27.6[percnt]), non-sudden cardiac (8, 4.7[percnt]), non-sudden other (21, 12.4[percnt]), and uncertain cause (4, 2.4[percnt]). The median survival age was 60.5 yrs. Study entry characteristics predicting all-cause mortality using survival analysis included age (per decile, RR 1.5; 95[percnt] CI 1.3-1.7, p<0.001), MIRS (per 1-level increase, RR 1.7; 95[percnt] CI 1.5-2.1, p<0.001), CTG repeat length (per1-log increase, RR 1.9; 95[percnt] CI 1.2-3.0, p=0.006), cardiac diagnoses (if present, RR 2.7; 95[percnt] CI 2.0-3.7, p<0.001), and an abnormal EKG (if present, RR 2.4; 95[percnt] CI 1.7-3.3, p<0.001). Conclusions: Despite modern therapy, adult DM1 pts in the U.S. have a shortened lifespan. The most common causes of death are respiratory failure followed by cardiac causes. Predictors of death include older age, worsened muscular disability, greater CTG repeat length, and presence of cardiac issues either a diagnoses or abnormal EKG. Study Supported by: Research grant with Biogen, Inc. and Isis pharmaceuticals

Disclosure: Dr. Duda has nothing to disclose. Dr. Venkatesh has nothing to disclose. Dr. Groh has received personal compensation for activities with Isis Pharmaceuticals.

Atrial Flutter (Fast Heart Beat) in Myotonic Dystrophy Analysis and Possible treatments

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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!

Neuromuscul Disord. 2016 Feb 10. pii: S0960-8966(15)30123-1. doi: 10.1016/j.nmd.2016.01.005. [Epub ahead of print]

Atrial flutter in myotonic dystrophy type 1: Patient characteristics and clinical outcome.

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What is the cost of Congenital Myotonic Dystrophy tops $10 Billion Dollars in USA?

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Medical Cost

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.

Heart Review Myotonic Dystrophy

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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

This article has been cited by other articles in PMC.

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.

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Pacemakers extend life of some Myotonic Dystrophy Patients

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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.

Abstract
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