1Herzzentrum Dresden GmbH an der TU Dresden Klinik für Innere Medizin, Kardiologie und Intensivmedizin Dresden, Deutschland; 2Universitätsklinikum Carl Gustav Carus Dresden Klinik für diagnostische und interventionelle Radiologie Dresden, Deutschland
Background: MOMO Syndrome is a rare genetic disorder characterized by macrocephaly, obesity, short stature, and ocular abnormalities. Patients with this syndrome may present with complex medical issues, including cardiovascular complications. This case report describes the cardiovascular management of a 21-year-old female with MOMO Syndrome who developed biventricular heart failure complicated by intracardiac thrombi and subsequent thromboembolic events.
Case Presentation: A 21-year-old female patient with a history of MOMO Syndrome presented with NYHA class III dyspnea and progressive leg swelling. Cardiac evaluation revealed biventricular heart failure with severely impaired systolic function. Diagnostic work-up including cardiac magnetic resonance imaging (CMR), transesophageal echocardiography and heart catheterization, did not reveal significant valvular or coronary artery disease. However, it confirmed post-capillary pulmonary hypertension and non-ischemic dilated cardiomyopathy with apical thrombi in both ventricles.
Prior to CMR imaging, the patient experienced acute limb ischemia and a central pulmonary embolism, requiring critical care, intubation, and mechanical ventilation. She underwent venovenous extracorporeal membrane oxygenation for severe oxygenation issues. An emergency embolectomy and a mechanical thrombectomy with the INARI FlowTriever were performed, leading to significant clinical improvement.
Genetic testing did not identify mutations commonly associated with dilated cardiomyopathy, specifically in the TTN, LMNA, MYH7, or TNNT genes. Further evaluation also excluded the presence of antiphospholipid syndrome or Factor V Leiden mutation.
During hospital stay, our patient experienced twice a cardiac arrest event, due to ventricular fibrillation, prompting the implantation of a subcutaneous cardioverter-defibrillator (ICD) for secondary prevention. After stabilization, she was started on oral anticoagulation and guideline-directed medical therapy for heart failure and was discharged to a rehabilitation clinic for continued recovery and care.
Summary: To the best of our knowledge, this is the first reported case of an association of MOMO Syndrome with severe biventricular heart failure due to dilated cardiomyopathy and thromboembolic complications. It underscores the complexity of managing heart failure in rare genetic conditions such as MOMO Syndrome. Through interdisciplinary care (cardiology, cardiac electrophysiology and angiology), including heart failure treatment, thrombectomy and subcutaneous ICD placement, the patient achieved stability and began heart failure treatment, paving the way for a continued recovery.