Dilated cardiomyopathy: suspicion of familial form

Abstract

Background. Dilated cardiomyopathy (DCM) represents an important medical problem both in the in adult and pediatric population, with high rates of morbidity, mortality and hospital admissions. Genetic forms of DCM account 30–48% in adult patients; their main pattern of inheritance is autosomal dominant (56%). Early diagnosis of a genetic disorder in a family identify carriers or first-degree relatives of affected family members potentially at risk of disease and receive lifestyle modification advice, avoidance of alcohol excess, regular moderate exercise are necessary to prevent disease progression. Case report. Family doctor referred a 62-year-old nurse with breathlessness on exertion – she is limited to 250 m, palpitations, night sweats. From history is it known that more than 10 years ago during the routine ultrasound heart examination was found slight decrease of EF-(47%). Two years later after respiratory viral infection appeared palpitations, dyspnea, on ECG - frequent ventricular premature beats. She received irregularly treatment with Amiodarone, Lisinopril with incomplete positive effect, interrupted by patient after 2 months. The condition worsened periodically with palpitation. Family history was noticed 2 case of sudden death of family members (brother at 18 y.o, sister at 13 y.o). On examination: irregular heart rate 85 b /min, BP-110/70 mm Hg. The sights of congestive heart failure were not detected. Laboratory: increased pro BNP NT (1100 ng/ ml). ECG - sinus rhythm with 78 b/min, left shift deviation, frequent ventricular extrasystoles. ECoCG - sever enlargement of left ventricular diameter, moderate- left atrium, LV ejection fraction is sever reduced (13%), mitral regurgitation IV, tricuspid – II degree. Holter-ECG monitoring - frequent ventricular extrasystolies, four episodes of unsustain ventricular tachycardia. Conclusions. This 68-years -old female developed clinical features of cardiomyopathy at middle age. Were not identified the secondary causes of disease but were established 2 unexplained sudden death (< 35 years) at first degree relatives that suggest the genetic origin of disease. Is recommended genetic screening of patient and here relatives to provide more information of possible variants involved in the pathogenesis of DCM in this case. Genetic counseling is necessarily to identify the early symptoms in family members and to supervise people with high risk, especially female during pregnancy. Patient should continue treatment with b-blockers, ACE inhibitors and diuretics.