The Management of Congenital Muscular Dystrophy ... - Cure CMD

Cardiac SymptomsTypical symptoms of cardiac problems arelisted here. However, it is important to note thatyoung children may not be able to describethese symptoms.• Fatigue• Shortness of breath• Paleness of the skin and mucousmembranes• Periods of fast heartbeat (tachycardia)• Palpitations• Loss of consciousness• Light-headedness• DizzinessAssessmentThe first cardiac evaluation should take placearound the time when your child is diagnosedwith CMD. This evaluation typically includesan electrocardiogram (ECG) and echocardiogram(heart ultrasound). Your child’s cardiologistmay also request a 72-hour ECG (Holter ECG)or event monitor (2-week monitor) to check forabnormal heart rhythms. The frequency offollow-up evaluations will be determined byyour cardiologist and depends on your child’ssubtype, if known, and cardiac symptomsor concerns.As noted in Table 4, children with L-CMD havethe highest risk of cardiac problems and requirefrequent evaluation starting at diagnosis andevery 6 months therafter. Children withαDG-RD (related to Fukutin and FKRP) requirefrequent cardiac evaluations at diagnosis andannually. Children with αDG-RD (related toother genes or unknown gene involvement) andLAMA2 subtypes have an increased risk ofcardiac problems and require evaluations atdiagnosis, age 5 years, age 10 years, and annuallythereafter. If a heart abnormality is detected byECG, echocardiogram, or Holter/event monitor,more frequent follow-up may be required.ManagementIf your child has any signs of cardiomyopathy,medications such as ACE inhibitors orbeta-blockers should be started. Themanagement of severe cardiomyopathy orheart failure in children with CMD is nodifferent than in the general pediatricpopulation.The heart has four chambers: two upper andtwo lower. The heart “beats” (contracts,pumping blood out of the heart to circulatethrough the body) when the right upper chambersends a signal to the rest of the heart.Problems with the way that this signal is sent,or conducted, through the heart are calledarrhythmias. People who have arrhythmiasmay say that they feel like the heart is beatingabnormally.There are two types of arrhythmias:• Supraventricular arrhythmias are causedby the upper heart chambers andconduction system and are usually treatedwith beta-blockers.• Ventricular arrhythmias occur in thelower heart chambers and arelife-threatening. When these types ofarrhythmias occur, the heart does notbeat as well and blood doesn’t circulatethrough the body. This type of arrhythmiamay be seen in people with LMNA-RDand may require placement of animplantable defibrillator (known as anAICD, for automatic implantablecardioverter defibrillator) becauseventricular arrhythmias don’t get betteron their own. A defibrillator treats thearrhythmia by making sure the heartbeats the right way and thereby preventssudden cardiac death. The implantationof an AICD should be discussed if yourchild has progressive and severe heartenlargement and is at risk for ventriculararrhythmias, has had a loss ofconsciousness, or after resuscitationfrom cardiac arrest.20