Here, we report an infantile case of ventricular septal defect and restrictive cardiomyopathy caused by a de novo mutation of the cardiac troponin T gene. Initially diagnosed with a perimembranous ventricular septal defect in the newborn period, we observed the first signs of restrictive cardiomyopathy at the age of 18 months. The patient was listed for cardiac transplantation at the age of 8 years despite optimal medical treatment. The finding of a de novo mutation in TNNI3 (R204H) enabled a genetic diagnosis and counselling. We suggest that the previously reported overlap of functional and morphologic phenotypes in sarcomeric genes may also be a feature of TNNI3 mutations.

We describe an atypical presentation of stress-induced cardiomyopathy – Takotsubo cardiomyopathy – in a 16-month-old boy previously diagnosed with cyclic vomiting and episodic hypertension. He developed features of cardiac failure and his echocardiogram showed left ventricular wall motion abnormality accompanied with elevated cardiac enzymes. Cardiac catheterisation showed no coronary arterial abnormality. Complete spontaneous recovery occurred 2 weeks after admission.

We report the case of a young woman with a troponin mutation of C to T nucleotide substitution in exon 17 of troponin 2 (TNNT2; c.868C.T; p.Arg288Cys) leading to hypertrophic obstructive cardiomyopathy. Following surgical resection of the outflow obstruction, she had near-complete resolution of her asymmetric left ventricular hypertrophy, such that cardiomyopathy could no longer be diagnosed on echocardiographic grounds. We believe that this unusual case shows important aspects relating to the interplay between genetic and environmental mechanisms and the overlap in the phenotypic spectrum between primary subaortic stenosis and obstructive hypertrophic cardiomyopathy.

Left main coronary artery aneurysms are very infrequent (0.1%) and the majority is related to atherosclerotic obstructive lesions. We describe a young male having no conventional coronary risk factors presenting with acute inferior wall myocardial infarction. Coronary angiography revealed a prominent aneurysm of the left main coronary artery with selective extension towards the proximal left circumflex artery without associated coronary lesions.

Occasionally complex congenital cardiac disease presents for the first time in adulthood, encouraging us to reflect anew on our understanding of familiar conditions. A 59-year–old woman, who had had two normal pregnancies, attended with breathlessness and was found to have a double inlet left ventricle with concordant ventriculoarterial connections and a straddling tricuspid valve adherent to the malaligned ventricular septum.