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....................................................................................................................................................................... in South Africa and 1:1500 in Germany.643 Prospective large cohort studies report a 6-month mortality ranging from 2.0% in Germany to 12.6% in a 206 PPCM patient cohort from South Africa.643

PPCM frequently presents with acute HF but may also present with ventricular arrhythmias and/or cardiac arrest. An LVEF <30%, marked LV dilatation, LV end-diastolic diameter >6.0 cm, and RV involvement are associated with adverse outcomes.643 Cardiac recovery may occur in the first 36 months though it may be delayed to up to 2 years. Recovery rates vary among regions, from 75% to less than 50%.886888 Assessment and management of pregnant patients presenting with HF depends upon the clinical setting and severity of presentation. Detailed cardiac assessment with echocardiography, NP levels, foetal ultrasound and foetal monitoring is recommended. In cases of new HF or if there is diagnostic uncertainty non-contrast CMR may be considered. Milder cases can be treated with oral diuretics, beta-blockers, hydralazine and oral nitrates. Pregnant women presenting with signs of acute HF require urgent hospital admission. In case of PPCM presenting with severe HF and cardiogenic shock requiring inotropic or vasopressor support, transfer to an advanced HF centre, where ECMO, LVAD and/or cardiac transplantation can be performed, is recommended. Urgent delivery by caesarean section (irrespective of gestation) should be considered with MCS immediately available. Adrenergic agents (dobutamine, adrenaline) may have detrimental effects.889 When a PPCM patient is haemodynamically unstable, levosimendan or MCS may be considered. LVAD implantation as a BTT or BTR should be considered in refractory cases of cardiogenic shock.643 Bromocriptine has been proposed for patients with acute PPCM to reduce the production of a cleaved 16 kDa prolactin fragment, which may contribute to the pathophysiology of PPCM. Bromocriptine was tested in a randomized trial in 63 patients comparing its long-term, 8 weeks, with its short-term, 1-week, treatment. It was associated with recovery of LV function, with no difference between the two regimens and in line with the results of a previous international PPCM registry.890,891 Bromocriptine may be considered for treatment of PPCM. Untoward effects of treatment, including deep venous thrombosis and cessation of lactation, must be considered if it is initiated. It should therefore be accompanied by prophylactic (or therapeutic) anticoagulation.

14.2 Cardiomyopathies

14.2.1 Epidemiology and diagnosis CMPs can be either inherited (genetic/familial) and/or acquired. They can also be accelerated by disease modifiers.892894 They are a heterogeneous group of diseases and are major causes of HF.895 DCM has an estimated prevalence of 1 in 250 to 1 in 500 of the general population, HCM ranges between 1 in 500 to 1 in 5000, and AC is estimated to be present in around 1 in 1000 to 1 in 5000 persons.895,896 Direct causes of CMPs include pathogenic gene variants (mutations), toxins, auto-immunity, storage diseases, infections, and tachyarrhythmias. Disease modifiers, conditions that may aggravate or trigger a CMP, include epigenetic factors and acquired modifiers, such as pregnancy and most CV comorbidities. It is important to consider this key interaction between genetic and acquired causes during the diagnostic workup.897 Identification of an acquired cause of the CMP does not exclude an underlying pathogenic gene variant, whereas the latter may require an additional acquired cause and/or disease modifier to become manifest clinically. The commonest causes and disease modifiers are shown in Table 25.

The key elements of the diagnostic workup for all patients with HF and CMP are reported in Table 26.892,894,895,898,899 Specifics aspects of diagnosis and treatment are summarized in Tables 2729. Clinical history, laboratory tests, and imaging are the first-line investigations. Echocardiography is central for the diagnosis and monitoring of HCM, DCM, and AC. CMR imaging provides more detailed morphological and prognostic information and should be performed at baseline. The prevalence of gene mutations may vary according to the morphological phenotype or the underlying acquired cause. Gene mutations occur in up to 40% of DCM, 60% of HCM, and 15% in chemotherapy-induced, alcoholic or peripartum CMPs.895,898,900905 The prevalence of genetic mutations is over 10% also in non-familial DCM.898,906 Finding a pathogenic gene variant in a patient with CMP allows better prediction of the disease outcome and progression, may contribute to the indications for device implantation and inform genetic counselling for families. Endomyocardial biopsy (EMB) with immunohistochemical quantification of inflammatory cells remains the gold standard investigation for the identification of cardiac inflammation. It may confirm the diagnosis of auto-immune disease in patients with DCM and suspected giant cell myocarditis, eosinophilic myocarditis, vasculitis and sarcoidosis.893,907 It may also help for the diagnosis of storage diseases, including amyloid or Fabry disease, if imaging or genetic testing does not provide a definitive diagnosis (see also section 14.6). EMB might be considered also in HCM if genetic or acquired causes cannot be identified. The risks and benefits of EBM should be evaluated and this procedure should be reserved for specific situations where its results may affect treatment.

14.2.2 Treatment The current pharmacological treatment of HF in DCM, HCM, or AC patients does not differ from general HF management, except for peculiar aspects reported in Tables 2729. A pilot randomized study, TRED-HF, investigated the possibility of withdrawing medical treatment in those patients with non-ischaemic DCM who had had partial to complete recovery of LVEF (>40%). However, relapse of DCM within 6 months was observed in 44% of patients, and rapid LV remodelling with early tissue and functional changes, even amongst patients who did not relapse, was found.271,908 In a phase 3, randomized, double-blind, placebo-controlled trial (EXPLORER-HCM), treatment with mavacamten improved exercise capacity, LVOT obstruction, NYHA functional class, and health status in patients with obstructive HCM. This offers the possibility of disease-specific treatment for inherited CMPs. 909 ICD implantation should be considered for patients with DCM, HCM, or AC (see section 6).895,910912 The strength of the indication varies according to the clinical risk factors for sudden cardiac death with higher priority being given to those patients with significant LGE Downloaded from academic.oup.com/eurheartj/article/42/36/3599/6358045 by guest on 07 October 2026