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Il ruolo del cardiologo nelle miopatie
- 1. Il ruolo del cardiologo nelle miopatie Daniela Miani AZIENDA OSPEDALIERO-UNIVERSITARIA “S. MARIA DELLA MISERICORDIA” UDINE Dipartimento di Scienze Cardiotoraciche malattie neuromuscolari dell’adulto: dalla diagnosi al follow-up e gestione delle complicanze. Creazione di un percorso assistenziale coordinato per le malattie neuromuscolari UDINE 16 dicembre 2013
- 2. Background • Heart and skeletal muscle share similar molecular, anatomical and clinical features. • Cardiomyocytes and skeletal myofibers have the same sarcomeric structure • General architecture of the cell, calcium handling, regenerative capacity is different
- 3. Background • Structural and funcional gene abnormalities producing degeneration of the heart muscle can similarly produce degeneration of the skeletal muscle and viceversa. • 26% of paediatric cardiomyopathies have associated neuromuscolar disorders disease (Towbin JA et al al Jama 2006) • 25% of genes associated with cardiomyopathies are also causative of neuromuscolar disorders as allelic forms.(Kostareva A et al Front Biosci 2013)
- 4. Case Report - 1 DE female (born 10/1/1955) Age 35 years: first episode of sustained VT with Left Bundle Branch morphology and inferior axis. Treated with DC shock ECG : SR, 1°AVB, RBBB + LAH Echocardiogram: DV 72 ml SV 54 ml. EF 30% Hypokinesia of inferior basal segments. PAP32 mmHg. Coronarography: normal coronary arteries EMB: non sufficient. EPS : negative for arrhythmias induction. Discharged in therapy with : Amiodaron ->Sotalol, Ramipril, Tapazole
- 6. Case Report - 1 EF 45%-> 25% 8/4/2000 ICD implanted 2005: Multiple sustained VT treated with DC shock NYHA III Class. Echo: EF 16% diastolic dysfunction III°. Therapy: Digitalis, Aldacton , Tiroxin , Bisoprolol, Furosemide, Metolazon, Amiodaron Right Heart Cardiac Cat: CI 1,69, CO 2,5 WP 19, VP 20, PAP 34/19-25 SVR 1605 DS/cm5 Cardiac transplantation 11/2/2006
- 7. Ventricular tachycardia LBB inferior axis (150 bpm) Case Report 1
- 9. Neurological examination (2006) Suspected limb girdle myopathy. CK and LDH mild elevated. EMG confirms hypotesys of protopathic myopathy NE confirms proximal strenght deficiency at girdle level with winged scapula and hyperlordosis, ambulation anserina deficiency of neck flexor muscles, abduce arms for 75°(F=3+) Deficiency muscle gluteus medius and ileopsoas. EMG: primitive myopathic suffering of biceps brachii and tibialis anterior Case Report 1
- 10. Pathology: gross examination Case Report 1
- 11. Dystrophin A Case Report 1
- 12. Dystrophin B Case Report 1
- 13. Case Report - 2
- 14. PL, female 59y proband Hystory of Atrial fibrillation and flutter since 25 yrs ECG: WPW, LV hypertrophy ->LBBB ECHO: mild hypertrophy, FE 56%-> DCM (46yrs) Myopathy, normal CK, hypoacusia Heart transplant at 51yrs (2002) for cardiac arrest due to VF Genetic mutation: LAMP2+ (249 G>A) Case Report 2
- 17. Neurological examination Age 54, she reported muscolar weakness and myalgia. She had mild proximal and flexor muscle weakness, facial hypomimia. CK levels were normal Cognitive records were normal (IQ=82 by WAIS R scale). Quadriceps femori muscle biopsy showed mild myopathic changes without fiber vacuolization Case Report 2
- 18. Pathology: gross examination Case Report 2
- 20. Collections of infiltrating macrophages and focal PAS-positive accumulation were also present. Microscope magnification, 400 Vacuolization and autophagic degeneration of cardiomyocytes and extensive replacement fibrosis in cardiac muscle Case Report 2
- 21. MD, male 30y son Symptomatic since 28 yrs: palpitations, presyncopal episode ECG: WPW, LVH ICD on 2005 Echo: left ventricle enlarged with septal hypertrophy (basal 12 mm medium 15 mm with apical trabecole); normal EF (60%); biatrial enlargement. Heart failure Heart transplant at 34 yrs (2007) Cognitive impairment; myopathy; obesity Genetic mutation: LAMP2+ (249 G>A) Case Report 3
- 22. Neurological investigation Age 28 muscle weakness and CK 1094U/l skeletal muscle biopsy: vacuolar myopathy with PAS positive material. Muscle CT scan: moderate proximal and distal atrophy of lower limbs Age 30 mild difficulty in climbing stairs and lifting weights NE: mild waddling gait with hyperlordosis. Gower’s sign, distal leg muscle hypotrophy, mild weakness of proximal and distal girdles, neck flexor and facial muscles. PE: IQ 77 (WAIS R) delayed psychomotor development. EEG: Diffuse slow dys-arrhythmia. Case Report 3
- 28. Pathology: gross examination Case Report 3
- 30. Case Report 3
- 31. Different degrees of skeletal muscle fibers involvement milder degree of vacuolization and many fibers with apparently normal features mild myopathic changes but no fiber vacuolization or degeneration. Case Report 2-3
- 32. CM, female 42y niece Symptomatic since 34 years for palpitations Physical examination: normal ECG: normal Echo: normal RMN: normal Holter monitoring: BEV >30/h, > 50/h, couplets, NSVT max 6 beats Genetic screening in 2005: LAMP2 + Case Report 4
- 39. Case Report 5
- 40. Dystrophin A Case Report 5
- 41. Dystrophin B Case Report 5
- 43. Case Report 6 FC born 5/24/1975 Diagnosis of Becker Disease at 13 year Biopsy Muscle triceps: evolutive myopathy 14 years: EF 35%, 19 years EF 40% 22 years advanced heart failure: ICD Vo2 max 23,9 ml/kg/min Teraphy: Furosemide, Bisoprolol, Enalapril, Spironolactone, Digitalis
- 45. Case Report 6
- 46. Case Report 6
- 47. Case Report 6
- 48. Case Report 7 TE born 4/27/1975 History of familial dilated cardiomyopathy Age 23 BAV II degree -> PM Coronary angiography: normal. EF 65% EMB not significant Age 35 atrial flutter RF ablation Age 38 paroxismal atrial fibrillation Echo: Normal EF
- 51. TE age 38 symptoms: weakness EMG : deficit myopathic primitive NE : Deficiency of neck flexor, deficiency of the flexion of the tight compatible with diagnosis of myofibrillar myopathy Case Report 7 Case Report 7
- 52. Case Report 7
- 53. Case Report 8 SL born 3/22/1947 Age 33 familial dilated cardiomyopathy Age 47 Heart Transplant Age 63 weakness, gait difficulty, deficit of the shoulder girdle and pelvic. CK normal MB: hystology and hystochimic compatible with myopathy: focal accumulation of Alpha B crystallina, desmin and myotillin Compatible with myofibrillar myopathy
- 54. Dystrophin A Case Report 8
- 55. Dystrophin B Case Report 8
- 57. Circulation. 2006; 113: 1807-1816
- 58. Circulation. 2006; 113: 1807-1816
- 59. Cardiomyopathies Primary confined to heart Secondary Part of NMD Predominant manifestation of NMD
- 65. Conclusions Patients with CMP require special attention by the cardiologist and neurologist Baseline evaluation include: Cardiological clinical evaluation 12 lead ECG Echocardiography In selected cases more sophisticated cardiovascular evaluations are required.
- 66. Conclusions NMD may be accompanied by all types of CMP Diagnosis relies on both the cardiologist and neurologist having hight index of suspicion evaluating minor cardiac or neuromuscolar complains Underlying etiology can be molecularly determined through genetic testing Genetic etiology is informative for diagnosis, genetic counseling and increasingly to guide therapy
- 68. Clinical history A 19-year-old man presented to our hospital for a self-limiting loss of consciousness while playing a soccer match. After an extensive clinical evaluation and radiological examination with cardiac magnetic resonance, the diagnosis of isolated left ventricular non compaction (LVNC) was established. Two years later, at the age of 21, the patient underwent successful heart transplantation for a dilated cardiomyopathy with a severe left ventricular disfunction.
- 69. Pathology: gross examination The explanted heart weighted 450 g with a transverse diameter of 11 cm and a vertical diameter of 13.5 cm; the thickness of the left and right ventricle was 1,8 and 0,8 cm respectively. Grossly, on cut sections, the left ventricular wall demonstrated deep recesses and trabeculations involving two thirds of the thickness of the wall (see figures in the next slides).
- 74. Whole-mount transversal section of the left ventricle: H&E and Azan-Mallory Trichrome stain showing miocardial trabeculations, deep recesses involving 2/3 of the wall, interstitial and replacement fibrosis.
- 75. Section of the left ventricle: Gomori Trichrome stain showing interstitial and replacement fibrosis (5x)