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

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6 Cardiac ManagementTaking Care of the HeartThe goal of cardiac management is the earlydiagnosis and treatment of heart problems thatmay, at any age, be associated with CMD. Insome CMD forms heart problems are likelyto develop and so regular cardiac screening isnecessary; others do not have heart involvementand will not require regular cardiac screening.Sometimes heart involvement can be due toweakness that develops in the heart muscle aspart of CMD. It can also be caused by breathingproblems that have not been diagnosed ortreated appropriately, leading to strain on theheart (see Respiratory Care section). In thesecases or if there is a concern that symptoms maybe due to heart arrhythmia or heart enlargement,cardiac screening and a visit to a cardiologistmay be needed. If the CMD subtype is unknown,cardiac screening may be needed.The two most commonly diagnosed heartproblems are arrhythmias (an abnormal heartrhythm) and cardiomyopathy (abnormallyfunctioning heart muscle and enlarged heart).Either condition may occur as the main heartproblem in certain CMD subtypes, but not allindividuals with that particular subtype mayhave cardiac problems (see Table 4).Table 4Cardiac issues in various CMD subtypesCMD SubtypeIssueDG-RDIncreased risk of developing cardiomyopathyLAMA2-RDMild heart enlargement that does not affect heartand arrhythmias that require treatment have beenreportedLMNA-RDIncreased and serious risk for both arrhythmias andcardiomyopathy. Early cardiology evaluation andregular follow-up is most important.COL6-RMThe heart muscle does not seem to be affected, butcardiomyopathy can be caused by untreated lungproblems. An echocardiogram when breathingsupport begins is recommended.SEPN1-RMThe heart muscle does not seem to be affected, butcardiomyopathy can be caused by untreated lungproblems. An echocardiogram when breathingsupport begins is recommended.RYR1-RMThe heart muscle does not seem to be affected, butcardiomyopathy can be caused by untreated lungproblems. An echocardiogram when breathingsupport begins is recommended.Abbreviations: DG-RD, alpha-dystroglycanopathy; CMD, congenital musculardystrophy; COL6-RM, collagen VI related myopathy; LAMA2-RD, laminin 2 relateddystrophy, including MDC1A; RYR1-RM, ryanodine receptor 1related myopathy;SEPN1-RM, selenoprotein N1 related myopathy; LMNA-RD, lamin A/C CMD.19
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
Page 6 and 7: Box 1CMD-LGMD Subtypes(abbreviation
Page 11 and 12: Hospital CareYour child may require
Page 13 and 14: 4 Respiratory ManagementCare of Bre
Page 15 and 16: Types of PulmonaryFunction Testing
Page 17 and 18: • fast heart rate or breathing ra
Page 24: IMPORTANT FACTS TO REMEMBERBe aware
Page 27 and 28: Table 5Age of onset of orthopedic c
Page 29 and 30: Box 4ConsiderationsforSpinalSurgery
Page 31 and 32: family to plan meaningfully and eff
Page 33 and 34: Children with LAMA2-RD are born wit
Page 35 and 36: Neurologist:A physician who has spe
Page 37 and 38: Advocate:To work with your child’
Page 39 and 40: Genetic mutation:A change in a pers
Page 41 and 42: Positive airway pressure (PAP):A ty
Page 43: of CMD. It is important for people

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

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