Inês Pires

Muscular dystrophies (MDs) are characterized by early-onset muscular atrophy and weakness, with frequent cardiac involvement. Myocardial dysfunction and conduction system involvement are often rapidly progressive despite medical and device therapy, and may even precede muscular symptoms, posing a challenge to diagnosis. We report a case of a young male admitted to a cardiac intensive care unit due to ‘de novo’ acute heart failure (HF) and atrial flutter with a slow ventricular response. Careful evaluation of past medical history revealed the presence of neuromuscular symptoms since childhood, disregarded throughout adult age. Diagnostic workup allowed to establish a diagnosis of non-dilated hypokinetic cardiomyopathy secondary to Emery-Dreifuss MD, due to lamin A/C (LMNA) gene mutation. Our patient was treated with neurohormonal modulation therapy and a cardiac resynchronization therapy defibrillator (CRT-D) was implanted, but due to worsening advanced HF, cardiac transplantation was needed. Association of skeletal muscle and cardiac symptoms should always raise the suspicion for an underlying MD, since the consequences of a missed diagnosis are often dramatic. A timely diagnosis is crucial to prevent sudden death due to arrhythmias in these patients and to delay the progressive course of cardiomyopathy.

Background: Patent foramen ovale (PFO) is one of the most common congenital heart defects, but the finding of a thrombus in transit (TIT) through a PFO is extremely rare. It is a therapeutic challenge, and systemic anticoagulation, cardiac surgery, or fibrinolysis should be considered. Case summary: A 43-year-old woman was admitted with intermediate-high-risk pulmonary embolism. Transthoracic echocardiogram revealed a large right atrial mobile mass that crossed the interatrial septum through a PFO, compatible with TIT, and the patient was started on unfractionated heparin. The diagnosis was confirmed by transoesophageal echocardiogram (TOE). However, during TOE probe removal, the patient developed dyspnoea, sudoresis, and peripheral desaturation, and new image acquisition revealed sudden mass disappearance. Due to the possibility of paradoxical embolization associated with Valsalva manoeuvre, fibrinolysis with alteplase was promptly started. The patient had no signs of embolic or haemorrhagic complications and remained clinically stable. She was discharged on warfarin and then underwent percutaneous transcatheter closure of PFO. Discussion: The treatment strategy of a TIT through a PFO is controversial, but surgery might be the most appropriate treatment for haemodynamically stable patients, while thrombolysis should be used in cases of haemodynamic instability. Transoesophageal echocardiogram is generally a safe procedure but pressure changes associated with Valsalva manoeuvre may induce embolization of a TIT and attention should be given to patient sedation and tolerance. After complete embolization of a TIT, emergent thrombolysis may be the only treatment option, in order to prevent disastrous consequences related to paradoxical embolism.

Case report A 35-year-old man was admitted following a recovered cardiorespiratory arrest. He was attacked by another man with multiples blunts by a wood stick in the chest and head. An eyewitness statement indicated that the victim had lost consciousness and collapsed after being hit in the chest. He was in cardiac arrest, and a nearby healthcare professional provided first aid with cardiopulmonary resuscitation. The first electrocardiogram (ECG) rhythm strip, fifteen minutes later, identified ventricular fibrillation (VF) (). Sixteen electrical [...] Case report A 35-year-old man was admitted following a recovered cardiorespiratory arrest. He was attacked by another man with multiples blunts by a wood stick in the chest and head. An eyewitness statement indicated that the victim had lost consciousness and collapsed after being hit in the chest. He was in cardiac arrest, and a nearby healthcare professional provided first aid with cardiopulmonary resuscitation. The first electrocardiogram (ECG) rhythm strip, fifteen minutes later, identified ventricular fibrillation (VF) (). Sixteen electrical