title: Nemaline myopathy and heart failure: role of ivabradine; a case report.
abstract: BACKGROUND
  Nemaline myopathy (NM) is a rare congenital myopathy characterized by muscle weakness, hypotonia and the presence in muscle fibers of inclusions known as nemaline bodies and a wide spectrum of clinical phenotypes, ranging from severe forms with neonatal onset to asymptomatic forms. The adult-onset form is heterogeneous in terms of clinical presentation and disease progression. Cardiac involvement occurs in the minority of cases and little is known about medical management in this subgroup of NM patients. We report a rare case of heart failure (HF) in a patient with adult-onset NM in whom ivabradine proved to be able to dramatically improve the clinical picture.
  
  
  METHODS
  We report a case of a 37-year-old man with adult-onset NM, presenting with weakness and hypotonia of the proximal limb muscles and shoulder girdle, severely limiting daily activities. He developed progressive HF over a period of 6 months while attending a rehabilitation program, with reduced left ventricular ejection fraction (LVEF = 20%), manifested by dyspnea and signs of systemic congestion. The patient was started HF therapy with enalapril, carvedilol, spironolactone and loop diuretics. Target HF doses of these drugs (including carvedilol) were not reached because of symptomatic hypotension causing a high resting heart rate (HR) ≥70 beats per minute (bpm). Further deterioration of the clinical picture occurred with several life-threatening arrhythmic episodes requiring external defibrillation. An implantable cardioverter defibrillator (ICD) was then implanted. Persistent high resting HR was successfully treated with ivabradine with HR lowering from 90 bpm to 55 bpm at 1 month follow up, LVEF rising to 50% at 3 month follow up and to 54% at 2,5 year follow up. To date no more hospitalizations for heart failure occurred. A single hospitalization due to aspiration pneumonia required insertion of a tracheostomy tube to protect airways from further aspiration. At present, the patient is attending a regular rehabilitation program with net improvement in neuromotor control and less limitations in daily activities.
  
  
  CONCLUSIONS
  HF is a rare feature of NM, but it can negatively influence prognosis. Conventional HF therapy and/or heart transplant are the only reasonable strategy in these patients. Ivabradine is a useful, effective and safe drug for therapy in NM patients with HF and should be considered when resting HR remains high despite beta-blockers' full titration or beta-blockers' underdosing due to intolerance or side effects.
authors.affiliation: Cardiovascular Rehabilitation Unit - Buccheri la Ferla Fatebenefratelli Hospital, Via Salvatore Puglisi n, 15, Palermo, Italy. fsarullo@neomedia.it.
authors.forename: Filippo M
authors.initials: FM
authors.lastname: Sarullo
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Vitale
authors.forename: Antonino
authors.initials: A
authors.lastname: Di Franco
authors.forename: Silvia
authors.initials: S
authors.lastname: Sarullo
authors.forename: Ylenia
authors.initials: Y
authors.lastname: Salerno
authors.forename: Laura
authors.initials: L
authors.lastname: Vassallo
authors.forename: Emanuela Petrona
authors.initials: EP
authors.lastname: Baviera
authors.forename: Stefania
authors.initials: S
authors.lastname: Marazia
authors.forename: Giorgio
authors.initials: G
authors.lastname: Mandalà
authors.forename: Gaetano A
authors.initials: GA
authors.lastname: Lanza
mesh_terms: D000328:Adult; D001552:Benzazepines / Q000627:therapeutic use*; D002317:Cardiovascular Agents / Q000627:therapeutic use*; D004452:Echocardiography; D004562:Electrocardiography; D006333:Heart Failure / Q000175:diagnosis / Q000188:drug therapy* / Q000209:etiology*; D006801:Humans; D000077550:Ivabradine; D008297:Male; D017696:Myopathies, Nemaline / Q000150:complications*; D016896:Treatment Outcome
chemical_list: D001552:Benzazepines; D002317:Cardiovascular Agents; D000077550:Ivabradine