We aim to describe a unique case of a desmoplakin gene mutation with refractory ventricular arrhythmia and cardiomyopathy. We describe a 29-year-old man hospitalized for chest pain and cardiomyopathy, who subsequently developed ventricular arrhythmia that was refractory to multiple antiarrhythmic agents, ablation, immunotherapy, and sympathectomy. Diagnostic studies included coronary catheterization, cardiac MRI, and endomyocardial biopsy. He underwent placement of an Impella 5.5 temporary mechanical support device for multi-organ failure; eventually requiring a Heartmate 3 left ventricular assist device. This report details how cardiac MRI, endomyocardial biopsy, and genetic testing are crucial diagnostic modalities when assessing patients with refractory arrhythmias or myocarditis. Pathogenic variants in the desmoplakin gene can be associated with significant morbidity in patients and require multidisciplinary care from cardiology, electrophysiology, advanced heart failure, and cardiac surgery. Arrhythmogenic cardiomyopathies should be considered for patients suffering repeated episodes of myocarditis or refractory ventricular arrhythmias. We utilized various criteria of functional, electrocardiographic, arrhythmic, tissue characterization, and genetic findings to establish the diagnosis of arrhythmogenic cardiomyopathy, which will be discussed later in this paper.

We report the case of a 58-year-old patient with chronic ischemic syndrome who underwent dipyridamole stress echocardiography for the evaluation of chest pain. The stress test was negative with normal coronary flow velocity reserve, preserved chronotropic competence, and no inducible wall motion abnormalities. However, upon administration of aminophylline at the end of the test, the patient developed acute chest pain, ST-segment elevation, and severe apical wall motion abnormalities. These findings resolved with intravenous nitrates. Subsequent coronary angiography revealed a significant vasospastic stenosis in the left anterior descending artery superimposed on a mild organic stenosis of around 50% after intracoronary nitrates. The coronary stenosis was successfully treated with a drug-eluting stent. This case highlights the potential for vasospastic angina to be unmasked following vasodilator reversal, even after a negative stress echocardiography.

L-Carnitine (LC) is integral to energy production and fatty acid metabolism, facilitating the transport of long-chain fatty acids into mitochondria for β-oxidation. It modulates metabolic pathways, including pyruvate dehydrogenase activity, proteolysis, and protein synthesis, while also having anti-inflammatory and antioxidant characteristics. LC can be commonly applied to win the battle against HIV and cancer cachexia. Also, it can be recruited with the aim of improving physical and cognitive functions in athletes and the elderly. Despite these benefits, long-term LC administration has been associated to cardiovascular risks due its conversion to trimethylamine-N-oxide (TMAO) by the gut microbiota. Elevated TMAO levels are linked to atherosclerosis, oxidative stress, and an increased risk of cardiovascular disease, diabetes, and chronic kidney disease. Managing TMAO levels using dietary treatments and gut microbiota-targeting techniques, such as probiotics, may reduce these risks. This comprehensive review presents the state-of-the-art information on LC’s dual role, emphasizing the balance between its therapeutic potential and the risks of prolonged supplementation. It aims to guide clinicians and researchers in optimizing LC’s benefits while addressing its long term cardiovascular safety concerns.