Dilatative cardiomiopathy: a compound ethiology between two genetic pathologies with dominant autosomal transmission

Introduction: Dilatative cardiomyopathy represents a complex pathology, without an universal valid definition. It is characterized by LV dilatation and systolic dysfunction, consecutive to the primary myocardium afectation, which can be limited at the cardiac level or may be part of various syndromes with multisystemic impairment.
Case presentation: We present the case of a 65-year-old patient, recently diagnosed with type I myotonic dystrophy (Steinert), following a family screening. Patient accused dyspnoea at rest, irritative cough and loss of effort tolerance. ECG shows a trifascicular block (major LBBB and grade I AVB). ECG Holter monitoring captures ventricular arrhythmia, class Lown 4A. Echocardiography reveals dilatatative cardiomyopathy with severe systolic dysfunction, severe mitral regurgitation and non-compaction of LV. Although, the treatment for heart failure and arrhythmya is initia-ted, the patient presents multiple episodes of cardiac decompensation with nocturnal paroxysmal dyspnoea and irritative cough. Biologically, elevated levels of NT-proBNP and D-dimers (1400 ng/ml) were found. Pulmonary thromboembolism is suspected, but is infirmed by angio-CT. There is a possibility of pulmonary microembolies associated with the non-compaction of LV, and MRI will be performed. Taking into account the CMD diagnosis, associated with VS non-compaction and myotonic dystrophy, as well as the ECG aspect, the cardiac resynchronization therapy is indicated, as well mitral valve reconstruction, which the patient is currently delaying, continuing the drug therapy.
Discussion: This is a particular case in many aspects. First of all, it is amazing the association of two pathologies with dominant autosomal dominant gene trans-mission, the non-compaction of LV and type I myotonic dystrophy (Steinert). It is also difficult to determine whether CMD derives from primary genetic damage in the context of a multisystemic syndrome, or it is secondary, following one or the association between non-compaction of LV and Steinert dystrophy.
Conclusions: Dilatative cardiomyopathy is associated with neuro-muscular impairment or other cardiomyopathy such as non- compaction of LV. As clinical manifestations, we are dealing with acute cardiac decompensation, arrhythmias or thromboembolic events. Therapy should target the primary prevention of sud-den death, taking into account the increased risk of malignant arrhythmias; the need for resynchronization therapy at advanced stages of heart failure will also be assessed.

ISSN – online: 2734 – 6382
ISSN-L 1220-658X
ISSN – print: 1220-658X
The Romanian Journal of Cardiology is indexed by:
ESC search engine
CODE: 379
CME Credits: 10 (Romanian College of Physicians)
This work is licensed under a Creative Commons Attribution 4.0 International License.